PRENATAL CARDIOLOGY POMAGAMY NIENARODZONYM PRZEKAŻ 1% PODATKU! KRS QUATERLY JOURNAL OF THE ASSOCIATION FOR PRENATAL CARDIOLOGY DEVELOPMENT

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1 IC Journal Master List ICV 5.38; MNiSW 2 ISSN e ISSN PRENATAL CARDIOLOGY KARDIOLOGIA PRENATALNA - ECHO PŁODU QUATERLY JOURNAL OF THE ASSOCIATION FOR PRENATAL CARDIOLOGY DEVELOPMENT Vol. 5 Nr 1 (16) March 2015 Contents: The Polish National Registry for Fetal Cardiac Pathology ( selected data analysis for 2013 and 2014 and comparison with data from 2004 to 2012 /Paulina Kordjalik et al./ Missed Down syndrome and congenital heart defect in prenatal ultrasound (US) - malpractice or not? Opinions of 12 experts /Maria Respondek-Liberska/ Exhibition: February - a Month of Fetal Heart Examinations /Iwona Strzelecka/ PRZEKAŻ 1% PODATKU! KRS POMAGAMY NIENARODZONYM Copyright 2015 Association for Prenatal * Polish Cardiology Medical Development Bibliography /Polska Bibliografia Lekarska/ Chief editor: prof. Maria Respondek-Liberska Journal is indexed in: * Academic Keys * Index Copernicus * Google Scholar * Polish Ministry of Education and Science /Lista czasopism Ministerstwa Nauki i Szkolnictwa Wyższego/

2 PRENAT CARDIO 2014, 4 (15) PART I - SCIENTIFIC PAPERS TABLE OF CONTENTS Terms of Submission and Publication in Prenatal Cardiology the Quaterly Journal of Association for Prenatal Cardiology Development A Word From The Editor-In-Chief - Maria Respondek-Liberska 4 3 The Polish National Registry for Fetal Cardiac Pathology ( selected data analysis for 2013 and 2014 and comparison with data from 2004 to Paulina Kordjalik, Beata Radzymińska-Chruściel, Maciej Słodki, Agata Włoch, Joanna Szymkiewicz-Dangel, Maria Respondek-Liberska, Zdzisław Tobota Prenatal qualification for postnatal balloon valvuloplasty in isolated critical pulmonary valve stenosis based on 10 cases from a tertiary centre of fetal cardiology - Joanna Płużańska, Paweł Dryżek, Hanna Moczulska, Maciej Słodki, Michał Krekora, Ewa Gulczyńska, Tomasz Moszura, Jadwiga Moll, Maria Respondek-Liberska Missed Down syndrome and congenital heart defect in prenatal ultrasound (US) - malpractice or not? Opinions of 12 experts - Maria Respondek-Liberska 6 DOI / DOI / DOI /03153 Comment - Prof. Stuart Wiener MD Ph.D 24 Comment - Maciej Słodki MD Ph.D. Assoc. Prof. 25 Prenatal diagnosis of congenitally corrected transposition of great arteries on the basis of four chambers view case report. - Małgorzata Sabatowska, Małgorzata Soroka, Maciej Słodki Prenatal diagnosis of Holt-Oram syndrome - Hanna Moczulska, Maria Respondek-Liberska 26 DOI / DOI /03155 Echocardiographical puzzle #1 for March Jan Więcek MD 33 Echocardiographical puzzle #2 for March Anna Wótjowicz MD, Ph.D 34 Mistake in in vitro procedure - Kinga Bączyk-Rozwadowska Ph.D 36 DOI /03156 PART II - ECHO PŁODU (IN POLISH): SPECIAL EVENTS REPORTS, NEWS AND OTHER INFORMATION, PAGES PRENATAL CARDIOLOGY, short title Prenat Cardio Prenatal Cardiology Quaterly Journal is issued by the Association for Prenatal Cardiology Development, headquarter in Lodz Edited by: Prof. Maria Respondek-Liberska (Lodz) with team (Poland, Germany, USA) Editorial secretary and contact person: red. Marek Lipiński (Warsaw) l_marek@wp.pl Thematic editors: Prof. Birgit Arabin (Germany): Fetal cardiac problems in multiple pregnancies Prof. Stuart Weiner (USA): Maternal diseases affecting fetal heart Maciej Słodki MD, PhD, Assoc. Prof. (Poland): Fetal congenital heart defects Hanna Moczulska MD, PhD (Poland): Genetic and fetal heart problems Dennis Wood Jr., BA, RDMS, RDCS, RCPT (USA): Fetal heart functional abnormalities English corrector: Joanna Płużańska MD, Polish corrector: mgr Małgorzata Nesteruk Statistical editor: dr Szymon Brużewicz MBA, Science Pro Address for corespondence: ul. Rzgowska 281/289, Łódź; tel , echoplodu@fetalecho.pl Graphics and composition: Maciej Małachowski / pepperoni.pl Publishing house: pepperoni publishing studio, Łódź, Piotrkowska 152/3, tel / office@pepperoni.pl Circulation: print version 300 copies (English version), electronic version 960 readers (English & Polish version) Electronic version: Maciej Gotlib, sonalutions.com Electronic version of Prenat Cardio can be obtained via by logging into website: Copyright 2014 Association for Prenatal Cardiology Development Scoring: Publishing an article - 20 educational points (Polish Ultrasound Society) Journal subscription - 5 educational points (Polish Ultrasound Society) We are listed at: Polish Ultrasound Society Section of the Fetal Echocardiography and Prenatal Cardiology Prenatal Cardiology journal is linked to the facebook page of the Italian Society of Ultrasound in Obs & Gyn (SIEOG) Watch us on MEDtube

3 Terms of Submission and Publication TERMS OF SUBMISSION AND PUBLICATION Terms of Submission and Publication In Prenatal Cardiology KARDIOLOGIA PRENATALNA - Echo Płodu the Quaterly Journal of the Association for Prenatal Cardiology Development Scientific Supervision: Section of Fetal Echocardiography and Prenatal Cardiology of the Polish Ultrasound Society 1) The Journal, Prenatal Cardiology" (short version "Prenat Cardio")(in Polish: KARDIOLOGIA PRENATALNA - ECHO Płodu ), is indexed in the National Library in Warsaw. The previous journal title in was POLSKA KARDIOLOGIA PRENATALNA - ECHO Płodu in English: Polish Prenatal Cardiology - Fetal ECHO (short version: "Kardio Prenatal"). The Journal comprises of basic two sections: A) Scientific papers, including review articles, original clinical, preclinical and fundamental research, case reports and letters to the editor B) Articles that bridge the fields of law and medicine and informational announcements about educational activities, parents foundations and training workshops. 2) Subjects of particular interest include all issues related to fetal cardiac defects and extracardiac anomalies, and the role of prenatal cardiology in the diagnosis, treatment and prevention of cardiac diseases, critical assessments of recently developed and newly enhanced non-invasive diagnostic tools and methods, such as ultrasound, echocardiography and other imaging techniques, are featured, as are the experiences and achievements in prenatal cardiology in Poland and abroad. Original research, comprehensive reviews and case reports will be of particular value to clinicians, fetal and pediatric cardiologists, cardiac surgeons, clinical physiologists, pharmacologists, obstetricians, neonatologists, geneticists and radiologists, as well as medical students, students in law, medical ethics, health economics and other areas of medicine dealing with cardiovascular diseases. 3) The Journal is published in both print and electronic versions, with the latter accessible at 4) All manuscripts are considered provided they abide by the following policies: * The article has not been previously published and is not under simultaneous consideration by another journal; * All authors approve the final version of the manuscript and agree to its publication in the quarterly Prenatal Cardiology, as attested to by a scanned document containing the title of the work, names and signatures of all authors, with the dates; * Relevant studies have been carried out in accordance with the requirements of the Bioethics Committee, and local laws; * During examination, patients rights have been respected, in accordance with the principles of the Helsinki Convention; * Authors using materials from other sources have been authorized to use such materials by the original authors and publisher. The editorial board of Prenatal Cardiology" is not be held liable for improper fulfillment of these formalities. 5) If the study was sponsored or co-financed, the source(s) of funding should be indicated (e.g., clinical trial, statutory, institutional grant or other). 6) Acceptance for publication in Prenatal Cardiology assumes the transfer of the author(s) ownership of the article to the publisher, which is the Association for the Development of Prenatal Cardiology. Articles may not be published, in whole or in part, without written permission by the publisher. Publisher has the right to the issuance and distribution of the materials submitted in all known forms and at all known fields of use, in the event that the materials are be accepted for publication. 7) Submitted scientific reports are evaluated by the editorial board and at least two external reviewers. A list of reviewers is published each year (In December issue). In most cases, authors are provided the opportunity to respond to the reviewers comments in their revised manuscript. The final decision on acceptance for publication is the prerogative of the Editors and is not subject to appeal. Copyright 2015 Association for Prenatal Cardiology Development 8) Manuscripts should be submitted electronically in the form of text files (MS Word 2003 or higher; pdf files are not permitted) and uploaded on (after first registering to obtain a login name and password). 9) Manuscripts should not exceed 12 pages (except in special situations with editorial approval), A4 format, with double line spacing, using 12-pt Times New Roman font, with margins of 2.5 cm on all sides. Pages should be numbered consecutively, beginning with the title page. 10) Publication text in the scientific part should be in English and consist of the following sections (each section should be uploaded separately): * Title page * Abstract and key words * Text of article * Literature cited * Images, tables, figures * Descriptions of images, tables and figures. 11) Title page should contain the article title in English, full names of all authors with the academic title or rank and affiliation number in the form of Arabic numerals (superscript), the name of the institution, from which the authors preceded by the corresponding number affiliation, address of the corresponding author ( address required), information about the source of external funding, if any. 12) Abstract. Summary of article in English (abstract), containing a brief description of the research question or objective. In original research papers, the abstract should be divided into the following four sections: objective, materials and methods, results, and conclusions Abstract should not exceed 250 words for original papers or 150 words for review papers. 13) Keywords (3-5) in English should be placed under the abstract, in accordance with generally accepted nomenclature, such as Medical Subject Headings in Index Medicus ( Editors reserve the right to select keywords. 14) Text of article. In original articles, a structural system is recommended. The article should be divided as follows: introduction, aim, materials and methods, results, discussion and conclusions. In review articles and case studies, different subsections can be used. 15) Acknowledgements may be included following the text. Only individuals who have contributed significantly to the study should be acknowledged. 16) References should be arranged in the order of citation at the end of the document. References should be noted sequentially in the text as superscript numbers. It is recommended that the cited literature meets the requirements of Evidence Based Medicine. Each article should include the names of all authors (in case of more than 3, you may use short version et al.), article title, journal name (abbreviations by Index Medicus), year of publication, volume number and inclusive pages. In the case of electronically available sources in addition to address page also access date shoud be provided or DOI number. 17) Images, tables, figures: good quality documentation is necessary, but not exceeding the number of six photos to the printed version. In the electronic version, more figures, including movie files in avi format can be posted. Graphics and drawings must be submitted as separate files. Acceptable formats include TIFF, PDF, JPEG, PPT, DOC, DOCX, XLS, XSLX in sizes up to 10 MB. Files should contain only one illustration devoid of signatures or headers. All signs and symbols should be built into the graphic to avoid mistakes. High-quality illustrations are acceptable only if the author provides original files. Insufficient technical quality of graphic elements can be a basis for rejection. The Publisher reserves the right to create or correct charts based on the accompanying data. 18) Descriptions of images, tables, figures. To describe the figures the use of numbered symbols is recommended, which are explained in footnotes. 19) Papers including avi format movies are especially welcome and would have a green line for rapid evaluation. 20) In the case of multi-author publication, information about each person s part in the research and final version must be provided. 21) Scientific papers obtain DOI numerations 22) The second part of the journal which is information and education is in the Polish language. Prof. Maria Respondek-Liberska, Editor-in-Chief (December 2014) 3

4 : 4-5 M. Respondek-Liberska Welcome A WORD FROM THE EDITOR-IN-CHIEF SŁOWO OD REDAKTOR NACZELNEJ Prof. dr hab. n. med. Maria Respondek-Liberska In February, Polish media were shocked by the information that seven consecutive doctors did not detect a case of phocomelia by ultrasound evaluation of a pregnant woman. The child was born without legs and arms. But every day, some 8 newborns are born in Poland with a congenital heart malformation and of those, only half are diagnosed prenatally. Unfortunately, no-one appears to be shocked by this. Usually, heart malformations remain asymptomatic in the first day postnatally; thus an obstetrician, theoretically at least, does his/her part of care for a pregnant woman and safe delivery of the child. The bad news concerning the cardiac malformationes subsequently provided by a neonatologist, and both the mother and her husband will consider this late diagnosis to be an error, as a child was so beautiful at birth. We therefore must draw the attention of both doctors and their patients to the prenatal evaluation of fetal heart. We have named February, for the second time, as the Month of the Fetal Heart. We write on this action with the participation of students of Medical University Lodz in the following paragraphs. We must consider whether lack of detection of malformation of the skeletal system, a heart malformation or a Down syndrome is indeed a mistake, or just a risk included in the work of an obstetrician. This problem has bothered me for a long time, particularly when acting in the capacity of an expert, I study the court files and results of ultrasound evaluations limited to biometrics, with neither conclusions nor any attempts of interpretation and with no good documentation that any other abnormalities have been considered. In my opinion, the majority of Polish obstetricians are well trained for taking care of pregnant women, including ultrasound examination of the fetus, but the latter only occurs at a basic level. Because of this, I decided to ask 12 members of a grand jury (selected by me as very good ultrasonographers with whom I have collaborated with for many years) to decide whether the lack of detection of Down syndrome with a congenital heart malformation is or is not an error. The results were surprising for me (a paper in this issue). Taking into account both the phocomelia case and the verdict of my grand jury I came to the conclusion that prenatal ultrasound examination in general and Echo examination in particular is an art, mastered in Poland by only a few, despite the widespread availability of suitable ultrasound machines. In my opinion, the majority of Polish obstetricians are well trained for taking care of pregnant women, including ultrasound examination of the fetus, but the latter only occurs at a basic level. They are not trained for a sophisticated estimation of the fetal body and its ever-changing physiology, particularly when the embryological development of a fetus is abnormal, or infection appears in the 2nd week of W lutym obiegła media szokująca informacja o niewykryciu fokomelii przez siedmiu kolejnych lekarzy w badaniu USG matki ciężarnej. Noworodek urodził się bez rączek i nóżek. Ale każdego dnia w Polsce rodzi się 7-8 noworodków z wadami serca, i tylko połowa (w porywach) tych noworodków ma diagnozę postawioną w czasie życia prenatalnego. Ten fakt jednak nikogo, niestety, nie szokuje. Zwykle w pierwszej dobie pourodzeniowej noworodka wada jest niedostrzegalna, a zatem położnik teoretycznie wywiązał się ze swoich zadań opieki nad ciężarną i zapewnienia bezpiecznego Moim zdaniem większość położników jest bardzo dobrze przygotowana do opieki nad ciężarną i jej płodem, w tym do prowadzenia badań USG, ale w zakresie podstawowym. Nie do finezyjnej oceny budowy płodu... przebiegu porodu dla kobiety i jej dziecka. Złe wieści zaniesie rodzicom dopiero neonatolog, a ci będą się zastanawiali, czy nie doszło do pomyłki, bo przecież noworodek śliczny i dobrze wygląda... Musimy więc znów zwrócić uwagę i pacjentów, i lekarzy na znaczenie dla przyszłego życia dziecka roli prenatalnego badania serca. Po raz drugi ogłosiliśmy luty Miesiącem Serca Płodu. O akcji i współudziale w niej studentów Uniwersytetu Medycznego piszemy w części publicystycznej naszego kwartalnika. Czy niewykrycie wady układu kostnego lub wady serca, albo zespołu Downa, to błąd diagnostyczny czy może ryzyko wkalkulowane w pracę lekarza położnika? Problem ten nurtuje mnie od dawna, zwłaszcza kiedy przeglądam akta sądowe, a w nich wyniki badań USG wielu lekarzy ograniczające się do biometrii, bez wniosków z badania, bez próby interpretacji, bez dokumentacji. Dlatego postanowiłam zapytać o zdanie 12 przysięgłych (przeze mnie wybranych, znakomitych diagnostów, z którymi współpracuję od wielu lat) o ich opinie na temat niewykrycia zespołu Downa z wadą serca u płodu... Błąd czy nie błąd? Wyniki tej analizy były dla mnie zaskakujące (polecam lekturę artykułu w tym numerze) i biorąc pod uwagę zarówno przypadek z mediów, o którym wspomniałam na wstępie, jak i analizę ankiet moich kolegów, doszłam do wniosku, że chyba na co dzień często zapominamy, iż prenatalne badanie USG, nie mówiąc już o badaniu ECHO, to sztuka, którą dobrze opanowali w Polsce nieliczni, pomimo powszechnej dostępności coraz lepszych aparatów USG. Moim zdaniem, większość położników jest bardzo dobrze przygotowana do opieki nad ciężarną i jej płodem, w tym do prowadzenia badań USG, ale w zakresie podstawowym. Nie do finezyjnej oceny budowy płodu i poznawania jego zmienionej fizjologii, kiedy embriologia zarodka przebiegła nieprawidłowo albo w drugiej połowie ciąży pojawiła się infekcja in utero, albo obydwa te problemy na siebie się nałożyły w danej ciąży. Te aspekty na pewno będzie w stanie opanować wkrótce młodzież lekarska, jeśli tylko starsze pokolenie jej na to pozwoli. A przede wszystkim jej to umożliwi. 4

5 A Word From The Editor-In-Chief pregnancy, or both problems coincide in the same pregnancy. Those aspects may be addressed soon by our current medical students, if they are given the opportunity and the encouragement. Students, as I see them, learn willingly and have no problems with learning more and more about the use of sophisticated ultrasound machines, which in principle is similar to learning to play the piano. It is slightly worse with mature students, who tend not to consider that they may be mistaken and who feel, by definition, that they are always right. For those of you who are not afraid of constructive criticism and who would like to broaden your diagnostic skills, I invite you to a yearly refresher course in fetal ultrasound in the Department of Prenatal Cardiology, ICZMP and Department of Diagnostics and Preventions of Congenital Malformations of Medical University Lodz. Ultrasound examinations are important, they can save life, or prolong it or bring comfort And meantime, I invite you to read this new issue of Prenatal Cardiology Editor-in-Chief, Prof. Maria Respondek-Liberska Lodz, March 2015 Młodzież, jak widzę, uczy się chętnie i szybko i nie ma problemu z opanowaniem palcówki przy obsłudze coraz bardziej złożonych ultrasonografów, trochę podobnej do gry na fortepianie. Gorzej nieco z młodzieżą dojrzałą, która nawet nie dopuszcza do siebie myśli o możliwości popełnienia błędu. Tych z Państwa, którzy nie boją się konstruktywnej krytyki i chcieliby podnosić swoje kwalifikacje, wzorem np. Francuzów ( u nich obowiązkowe są doskonalenia zawodowe w przypadku nierozpoznania wady serca u płodu), zapraszam przynajmniej raz w roku na kilkudniowy refreshment do Zakładu Kardiologii Prenatalnej ICZMP oraz Zakładu Diagnostyki i Profilaktyki Wad Wrodzonych Uniwersytetu Medycznego w Łodzi. Bo ultradźwięki są bardzo ważne... Mogą czasem uratować życie albo je przedłużyć, albo podnieść jego komfort... A tyczasem zapraszam do lektury marcowego numeru Prenatal Cardiology. Redaktor Naczelna, Prof. Maria Respondek-Liberska Łódź, marzec 2015 Scientific International Board Arabin Birgit (Berlin) obstetrician and fetal cardiologist Areias José Carlos (Porto) Chairman of Fetal Cardiology Group of the EAPC Blickstein Isaak (Jerusalem) obstetrician and fetologist Cuneo Bettina (Chicago) pediatric cardiologist and fetal cardiologist Bilardo Caterina (Groningen) obstetrician and gynecologist Gembruch Ulli (Bonn) obstetrician and fetal cardiologist Huhta James C. (Tampa) pediatric cardiologist and fetal cardiologist Katz Michael (New York) pediatrician Rizzo Giuseppe (Rome) obstetrician and fetal cardiologist Reuven Achiron (Tel Aviv, Hashomer) obstetrician and fetal cardiologist Rychik Jack (Philadelphia) pediatric cardiologist and fetal cardiologist Shurland Gurleen (Londyn) pediatric cardiologist and fetal cardiologist Sklansky Mark (Los Angeles) pediatric cardiologist and fetal cardiologist Weiner Stuart (Philadelphia) obstetrician and fetal cardiologist Wood Dennis (Philadelphia) fetal cardiologist SCIENTIFIC BOARD PRENATAL CARDIOLOGY Scientific Polish Board Banach Maciej (Łódź) cardiologist Gulczyńska Ewa (Łódź) neonatologist Jakubowski Wiesław (Warszawa) radiologist Jakubowski Lucjusz (Łódź) genetician Kornacka Maria (Warszawa) neonatologist Maroszyńska Iwona (Łódź) neonatologist Moll Jadwiga (Łódź) pediatric cardiologist Piaseczna Piotrowska Anna (Łódź) pediatric surgeon Preis Krzysztof (Gdańsk) obstetrician Rudziński Andrzej (Kraków) pediatric cardiologist Sikora Jerzy (Katowice) obstetrician Sąsiadek Maria (Wrocław) geneticist Śmigiel Robert (Wrocław) geneticist OUR REVIEWERS OF 2014: Mariusz Dubiel Lech Dudarewicz Katarzyna Januszewska Michael Katz Mark Levitt Hanna Moczulska Wielisław Papierz Krzysztof Preis Beata Radzymińska-Chruściel Andrzej Rudziński Maria Sąsiadek Aldona Siwińska Maciej Słodki Robert Śmigiel Elzbieta Walknowska Stuart Weiner Dennis Wood Rick Yanagihara Andrzej Zieliński Copyright 2015 Association for Prenatal Cardiology Development 5

6 : 6-12 P. Kordjalik et. al. Original paper THE POLISH NATIONAL REGISTRY FOR FETAL CARDIAC PATHOLOGY ( SELECTED DATA ANALYSIS FOR 2013 AND 2014 AND COMPARISON WITH DATA FROM 2004 TO 2012 Authors: Paulina Kordjalik 1, Beata Radzymińska-Chruściel 2, Maciej Słodki 3,4, Agata Włoch 5, Joanna Szymkiewicz-Dangel 6, Maria Respondek-Liberska 1,3, Zdzisław Tobota 7 1. Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz 2. Fetal Echocardiography Unit, Medical Center Ujastek, Krakow 3.Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute 4. Institute of Health Sciences. The State School of Higher Professional Education in Plock 5. Medical University of Silesia in Katowice 6. Out-Patient Department for Perinatology and Perinatal Cardiology, Medical University of Warsaw 7. Magnum 2, Poland PRENATAL CARDIOLOGY 2015, 1, (16): 6-12 DOI /03151 Abstract As in every year since 2004, we analyzed data from the Polish National Registry for Fetal Cardiac Pathology to follow actual trends in types of congenital heart disease (CHD) and to assess the development of prenatal cardiology in Poland. Overall, the most frequent cardiac malformation detected prenatally in , similar to the previous years, was hypoplastic left heart syndrome (HLHS). The average age of the examined fetuses was unchanged and remained above 20 weeks of gestation. An increased trend of detecting other cardiac malformations, such as transposition of the great arteries (d-tga) and aortic stenosis (AS), and the predominance of vaginal deliveries over cesarean deliveries suggested significant improvements in prenatal and perinatal care in Poland. Key words: Data base, Registry, Congenital malformation, Fetal echocardiography INTRODUCTION The Polish National Registry for Fetal Cardiac Pathology (hereafter referred to as the Registry) is an Internetbased, electronic database created to prospectively record the diagnosis (with still images and videos clips), prenatal care, delivery and neonatal follow-up of fetuses with congenital heart disease (CHD) in Poland. Launched in 2004 to monitor occurance of fetal cardiac malformations. The Registry is open to health care providers in Poland who perform prenatal ultrasound and obtained an access code and login to the database. Although it is voluntary registry about 80% of prenatal diagnoses are provided. The Registry has also made possible the implementation of a certification program in fetal cardiac ultrasound and serves as a simple and reproducible assessment tool to train ultrasonographers in fetal echocardiography. We hypothesized that prenatal recognition of CHD would increase over time and that identification of critical How to Cite this Article: Kordjalik P, Radzymińska-Chruściel B, Słodki M, Włoch A, Szymkiewicz-Dangel J, Respondek- -Liberska M, Tobota Z.: The Polish National Registry for Fetal Cardiac Pathology ( - selected data analysis for 2013 and 2014 and comparison with data from 2004 to Prenat Cardio 2015, 1 (16): 6-12 cardiac defects, those defects requiring speed postnatal cardiac service would improve postnatal survival. The purpose of our study was to compare the rate of prenatal diagnosis and outcome of fetal CHD from Registry data collected prior to 2013 and from MATERIALS AND METHODS We retrospectively analyzed data entered in to the registry from 2004 to 2012 (Period 1) and from (Period 2). The data, generated on the basis of standardized reports from the Registry ( are presented as mean ± SD or the number of cases (%). Each center has its 3 digit code (for instance Warsaw code is LSF, Lodz code is PBU, Silesia code is YHG), and center providing > 100 CHD per year is labeled type C prenatal cardiac center, center providing > 50 CHD is labeled type B center, and center providing > 10 per year is labeled type A center. Corresponding author: pkordjalik21@interia.pl Submitted: ; accepted:

7 The Polish National Registry for Fetal Cardiac Pathology ( selected data analysis for 2013 and 2014 and comparison with data from 2004 to 2012 CHD in Registry had diagnoses according to the structural anomalies (for istance d-tga ) and in addition also alerting diagnoses classified into four categories: Critical CHD ductal dependent for prostin infusion but early therapeutic catheterisation and early surgery in 1-2 week of postnatal life Not-urgent (formerly benign ) meaning cardiac surgery not planned during the first month after delivery Severe CHD ductal dependent for prostin infusion and classical neonatal cardiac procedures Rank 2013 CHD Figure 1. Number of fetuses with HLHS during in the ORPKP Registry in Poland ( ) 1 Hypoplastic left heart syndrome 2 Ventricular Septal Defect 3 AVSD: atrial & ventricular components (complete) 4 Aortic valvular stenosis Number of cases and % 2014 CHD % Hypoplastic left heart syndrome % AVSD: atrial & ventricular components (complete) % Aortic valvular stenosis % Ventricular Septal Defect 5 Tetralogy of Fallot % Aortic coarctation 6 Complete transposition of great arteries TGA 7 Discordant VA connections (TGA 8 Double outlet RV - Fallot type 9 Pulmonary valvular stenosis 10 Left SVC persisting to coronary sinus % Complete transposition of great arteries TGA % Tetralogy of Fallot % Left SVC persisting to coronary sinus % Aberrant origin R subclavian artery % Muscular Ventricular Septal Defect Number of cases and % % 48 6,5% % % % % % % % % Table 1. The most common CHD diagnoses in 2013 and 2014 in the ORPKP Registry in Poland. Very severe CHD (usually with lung hypoplasia) neonatal demise expected heart /lung transplant is not available currently in Poland The Section of Prenatal Echocardiography and Prenatal Cardiology Polish Ultrasound Society approved the conduct of this study. RESULTS Input from the leading centers In Period 1 and 2 the two leading centers in Warsaw and Lodz each recorded more than 100 cases of cardiac malformations per year. In Period 1 the number of physicians reporting more than five cases of fetal cardiac malformations annually was 10% and this remained unchanged in Period 2: 2013 (10.5%) and 2014 (10%). Thus, the majority of physicians infrequently encountered prenatal cardiac malformations, and this trend has remained relatively stable since 2012 (2012, 89.0%; 2013, 89.5%; 2014, 89.9%). In 2013 and 2014, 856 and 690 records, respectively, were entered into the Registry. This represented a significant increase from the 342 records in Collectively, between 2004 and 2014, 6,030 records were entered. In 2013, 603 (70.4%) of all data were entered by the type C centers from Warsaw (code LSF=314), Lodz (code PBU=155) and Silesia (code YHG=134). This remained largely unchanged in Period 2 : 2014, with the highest number of records entered by type C centers, which collectively comprised 80.0%. It is noteworthy, however, that the ranking of the leading centers in 2014 was Warsaw (321), Lodz (128) and Krakow (103), instead of Warsaw, Lodz and Silesia in So both in Period 1 and 2 we had basically the same leading centers. Number and types of fetal cardiac malformations In Periods 2, the most frequently detected congenital cardiac malformation was hypoplastic left heart syndrome (HLHS) ( n= 163: 71 cases in 2013 and 92 in 2014). This represents a significant increase from 22 cases in 2004 (Figure 1). Subsequent most frequently detected malformations in Period 2, in 2013 were ventricular septal defect (VSD), 67 cases and atrioventricular septal defect (AVSD), 61 cases; while in 2014, AVSD comprised 48 cases, while VSD 33 cases (Table 1). Copyright 2015 Association for Prenatal Cardiology Development 7

8 : 6-12 P. Kordjalik et. al. In comparison to data from 2012, HLHS still remained the most frequently diagnosed cardiac malformation; the second place was occupied by Tetralogy of Fallot (TOF) which was replaced by VSD in 2013 and by AVSD in 2014; Year 2013 Center Number of exams Type of CHD Number % LSF % CHD severe 29.6% CHD non-urgent 28.1% CHD critical 28.1% CHD most severe 1.8% YGH % CHD severe 30.2% CHD non-urgent 27.5% CHD critical 20.3% CHD most severe PBU % CHD severe 63.5% Year 2014 Center Number of exams CHD non-urgent 15.5% CHD critical 6.5% CHD most severe 0.4% Type of CHD Number % LSF % CHD severe % CHD non-urgent % CHD critical % CHD most severe 9 2.6% YGH % CHD severe % CHD non-urgent % CHD critical % CHD most severe 2 0.9% PBU % CHD severe % CHD non-urgent % CHD critical 9 7.4% CHD most severe 0 Table 2. Number of examinations of fetuses with congenital heart defects in different tertiary centers in 2013 and Follow-up in 2013 the third place was occupied by AVSD, as in 2013, but was replaced by aortic valvular stenosis in 2014 (Figure 2). Similar like in Period 1, in Period 2 (2013 and 2014), severe malformations predominated (2013, 47%; 2014, 48%). Subsequent categories were benign and critical malformations. The lowest rank was occupied by very severe malformations (8 cases in 2013 and 11 in 2014). In 2013, the structure of categories of cardiac malformations was similar in all leading centers; severe malformations were most frequently detected, followed by "benign" (not urgent), critical and lastly, very severe malformations. In 2014, changes were observed: in the Warsaw center, critical malformations predominated (106 cases), while in the Łódz and Krakow centers, severe malformations were the most frequent (161 and 46 cases, respectively) (Table 2 and Figure 3). Chromosomal abnormalities Number of cases Continuation of pregnancy % Termination of pregnancy (fetus) : % In utero death : % Spontaneous abortion/miscarriage (< 24 wks) : 8 2.4% Follow-up in % Number of cases Continuation of pregnancy % Termination of pregnancy (fetus) : % In utero death : % Spontaneous abortion/miscarriage (< 24 wks) : 3 1.4% Stillbirth (> 24 wks) : 3 1.4% Table 3. Follow-up in 2013 and % In Period 2 total of 150 fetuses with chromosomal abnormalities were recorded: in 2013 (95 cases, 10.6%) and 2014 (55 cases, 7.8%), including in majority (n=51: Down s syndrome (33 cases, 34.7% in 2013; 18 cases, 32.7% in 2014). Percentages were similar as in Period 1. We did not registered noncardiac defects or syndromes without heart defects. Main reason for referrals Both in Period 1 and Period 2, abnormalities in the four-chamber view of the fetal heart were the most common reason to detect fetal heart problems. In both 2013 and 2014, 60.4% and 61.8% of cases, respectively, were referred for fetal echocardiography. Figure 2. Number of fetuses with d-tga and Aortic stenosis during in the ORPKP Registry in Poland ( 8

9 The Polish National Registry for Fetal Cardiac Pathology ( selected data analysis for 2013 and 2014 and comparison with data from 2004 to 2012 Gestational age In Period 2 ( 2013 and 2014), the majority of cases were examined in the second half of pregnancy, which points out to the dominant role of prenatal examinations (Figure 4). The average age of examined fetuses decreased significantly from 28 ± 6.5 weeks in 2004 to 23.4 ± 5.8 weeks in 2014 (p=0,05) (Figure 5). severe defect non-urgent defect critical defect most-severe defect Figure 3. Types of congenital heart defects diagnosed in fetuses at tertiary centers: LSF and PBU in , YBX in 2014, and YGH in Progression of hemodynamic alterations In Period 1 we registered only 15,5% of fetuses who had progression of haemodynamic changes in the fetal heart in the second half of pregnancy. In Period 2 progression of hemodynamic alterations was observed much more frequently: in 54 cases (18.6%) in 2013, while in 2014, it comprised 62 cases (34.8%). Figure 4. Detection of CHD in three trimesters of pregnancy Mean STD Figure 5. Mean and standard deviation of gestational age of fetuses with CHD in years Fetal CHD and fetal weight based on biometry In Period 1, majority of fetuses despite the presence of congenital heart defect presented normal biometry in comparison to the gestational age based on maternal last menstrual period or biometry in 1 st trimester. In Period 2: it was similar: In 2013 and 2014, 88.3% and 88.7% of cases, respectively, were fetuses with normal body weight. Small for gestational age (10.5% in 2013, and 11.0% in 2014) or large for gestational age (1.1% in 2013, and 0.3% in 2014), were small groups. Copyright 2015 Association for Prenatal Cardiology Development 9

10 : 6-12 P. Kordjalik et. al. Polish Registry of Congenital Malformations (all kinds for children up to 2 years of age) Polish National Registry of Cardiac Surgery Procedures Polish National Registry of Neonatal Surgeries Registry for Arythmogenic Kardiomyopathy of RV EUROCAT European Surveillance of Congenital Anomalies EUROWILSON Orphanet Medicine Database California Birth Defects Monitoring Program New York State Department: Congenital Malformations Registry Texas Birth Defects Registry Iowa Registry for Congenital and Inherited Disorders Metropolitan Atlanta Congenital Defects Program Center for Birth Defects Research and Prevention National Birth Defects Prevention Network Canadian Congenital Anomalies Surveillance System Victoria Birth Defects Registry Latin-Amercan Collaborative Study of Congenital Malformations Chinese Birth Defects Monitoring Network Israel Birth Defects Monitoring System South African Birth Defects Surveillance System International Clearinghouse for Birth Defects Surveillance and Research Down Syndrome National Patient Registry Table 4. Representative registries of congenital anomalies in Poland, across Europe and elsewhere in the world. Figure 6. Rates of termination of pregnancies in year 2012, 2013 and 2014 Follow-up and outcome Both in Period 1 and 2 the analysis of the outcome was limited to those cases who had completed postnatal data. In period 1 it was only 255 follow-up and in period 2 we had 594 follow-ups. Based on these limited information in Period 1: 85.5% of women decided to continue their pregnancy and 6.9% decided to terminate; and there were 5% in utero deaths and 2.7% miscarriages) (Table 3). In Period 2 (2013 and 2014, 84% and 85% of women, respectively, decided to continue the pregnancy despite the detection of cardiac malformation and 7.7% and 5.9% of women decided to terminate their pregnancy in 2013 and 2014 (Fig. 6). In utero deaths were recorded in 19% and 13% of fetuses in 2013 and 2014, respectively, while spontaneous miscarriage was observed in 2.4% in 2013 and in 2.8% in The way of delivery In Period 1 approximately half of pregnancies ended with cesarean sections (47.2% in 2012), and in Period 2 there was change: an increased tendency of vaginal deliveries in 2013 (55.1%) and 2014 (61.1%) were observed. DISCUSSION Analysis of data from the Polish National Registry for Fetal Cardiac Pathology ( for 2013 and 2014 demonstrated many similarities but also distinct differences in comparison to previous analyses and publications 1-4. The dominant rank in Poland was taken by two leading centers of prenatal cardiology, in Warsaw and Lodz which have the highest level of type C reference centers that deal with the detection of cardiac malformations and the preparation of fetuses and pregnant mothers for delivery. The Warsaw center, however, was unique as the only one in Poland to use invasive therapies in selected cases of fetal cardiac problems (valvular stenosis and closed foramen ovale in HLHS) 5. By contrast, the Lodz centre was unique as the only one in Poland to offer cardiac catheterization and/or surgery at the same institution to newborns with cardiac malformation, without the need of external transportation to other centers. 6 It is noteworthy, that the Krakow center took third place in our ranking in recent years, thus joining three other leading centers in Warsaw, Lodz and Silesia. The most frequently detected cardiac malformation in Poland is still HLHS. The next most common type of CHD was septal defects (VSD and AVSD), and in 2014, the third place was aortic valvular stenosis (AS). it is worth to underline this type of prenatal diagnosis in Poland, specially in contrast to the recent data from USA: in multicenter study only 10 out of 117 critical aortic stenosis had prenatal diagnoses 7. Pregnant women are typically referred to a centre of prenatal cardiology because of an abnormal four-chamber view of the fetal heart. In 2012, half of the pregnancies were delivered by cesarean section 2-4, while in 2013 and 2014, there was a trend to vaginal delivery. Perhaps this 10

11 The Polish National Registry for Fetal Cardiac Pathology ( selected data analysis for 2013 and 2014 and comparison with data from 2004 to 2012 trend resulted from the employment of echocardiography just before delivery, resulting in the better monitoring of the hemodynamic status of the fetus. An interesting finding was the differences in classification of heart malformations into four categories between the type C references centers (not-urgent or "benign", to be treated in infancy; severe, to be treated during the neonatal period; critical, to be treated prenatally or in the first 24/48 hours of postnatal life; and most severe, for which there is no current therapy and fetal or neonatal death is unavoidable) 8-9. Such a situation underscores the necessity to establish better criteria for fetal heart malformations from a prenatal cardiology viewpoint. The definition of critical cardiac malformations is changing. Approximately 20 years ago, critical malformations were defined as those requiring therapy during the first year of life. And 15 years ago, critical malformations were defined as those accompanied by anoxemic attacks, while 10 years ago, cardiologists regarded as critical malformations those ductal-dependent malformations requiring prostin administration. Currently, due to advances in prenatal cardiology, cardiac malformations can be not only detected during the first or second trimester of pregnancy (e.g., HLHS) and CHD can be further (in the third trimester) subclassified into severe malformations (such as ductal-dependent, destined to the classical cardiac surgery within the 7 to 10 days of life) and critical malformations (for which cardiac intervention must be performed in the first or second day of life to allow newborns to reach the cardiac surgeon). Rychik from Children s Hospital of Philadelphia 10 suggested a term IMPACT for those neonates in whom hemodynamic instability is anticipated after cesarean section. The Polish National Registry for Fetal Cardiac Pathology ( provides and interesting data for the analysis of new congenital classification in prenatal cardiology. ORPKP registry has also some limitations. Our Registry is not obligation so it does not reflect 100% detection of fetal cardiac anomalies in Poland, but over 5000 records provided by > 4285 physicians in years reflects our daily work. The data about neonatal follow-up were filled up in 31% up to 2012 and in 35% in and an improvement in this regard should be our next goal. We did not analyzed cases who had examinations in 2 or 3 centers (they had separated records with the same code number), we did not analyzed so called negative verification (in case of different opinions of cardiac center type C about the type of severity of the heart defect). Despite of these limitations our Registry is unique in Poland and Europe, but it should be stressed that since the beginning of global computerization, practically every research project is associated with databases One of the first registries based on data of prenatal diagnoses was the Eurofetus 17 started by Professor Levi of Brussels. Because the correct practice of ultrasound is strongly operator-dependent, education and training are of paramount importance. The best results in detecting malformations are invariably obtained by the most skilled operators performing targeted examinations. Prof. Levi was interested in a mass screening program, but he failed to achieve a satisfactory cost-benefit analysis. In collecting data for the Registry, the principal focus was not on the process of screening but on the results of screening and process of diagnosing CHD. The heads of type C centers verified each entry to the database, using computer programs and by sending alerts. Eurofetus has shown that the global sensitivity of CHD detection (34%) was significantly lower when compared to Method of delivery in 2014 ORPKP Registry data were also sorted into separate lists composed of community physicians who detected fetal cardiac malformations and physicians who worked in reference centers. However, it should be noted that a physician in the first list might correctly diagnose a cardiac malformation, and a physician from a reference center might also be the first to detect a malformation. The number of cardiac malformations diagnosed by any physician is the basis of awarding and prolonging the Certificate of Basic Examination of Fetal Heart and Certificate of Echocardiographic Examination of Fetal Heart of Echocardiography and Prenatal Cardiology section of the Polish Ultrasound Society. These certificates (total number by the end of 2014 in Poland was 52) form the basis of contracts signed with National Health Service Method of delivery in 2013 Figures 7 and 8. Deliveries in pregnancies with congenital heart defects diagnosed prenatally in 2013 and 2014 (CC cesarean section, V vaginal delivery) Copyright 2015 Association for Prenatal Cardiology Development 11

12 : 6-12 P. Kordjalik et. al. CNS (88%) and urogenital malformations (89%). Therefore our database is unique not only from Polish perspectives. There are multiple other registries in Poland, Europe and elsewhere in the world (Table 4), which provide vast amounts of epidemiological information. However, none of the other registries can be simply compared with our data. And as 1 in 100 neonates is born with CHD (and 1:1,000 with Down Syndrome), prenatal cardiology nowadays is one of the most important fields of medicine, and we look forward to see the next registry for adults with congenital heart defects including our prenatally detected problems, solved by current and future medical technologies. And in connection with the in vitro program supported by the Polish Ministry of Health, fetuses conceived by in vitro fertilization should be monitored for the presence of cardiac malformations and data should be compared to those resulting from natural fertilization. The other emerging problem is the necessity to analyze data from multiple pregnancies, the number of which is now increasing. The following conclusions can be drawn from the updated analysis of the Registry data. On the basis of a four-chamber view, the most frequently detected and diagnosed fetal cardiac malformation in Poland continues to be HLHS. A tendency of increased detection of d-tga and AS underscores that Polish ultrasonographers are assessing not only the four-chamber view but also the outflow tracts. In the past two years, a tendency of hemodynamic progression was found in almost every fifth examined fetus, suggesting the necessity of enhanced echocardiographic and cardiac surveillance during the third trimester of pregnancy. Since the time of Registry initiation in 2004 to the present time of, 2013 to 2014, the predominance of natural delivery over cesarean delivery has been noticed. This finding is suggestive that Polish obstetricians are increasingly accepting the guidelines on how to deliver fetuses with CHD. The criteria for defining critical heart malformations need to be refined.. Importantly, the Registry is the central component of an overall national system to better integrate and coordinate the diagnosis, care and management of fetuses with structural and functional CHD. The Registry has already spurred CHD research as well as improvements in prenatal and perinatal health care in Poland. 12 References 1. Słodki M, Szymkiewicz-Dangel J, Włoch A, Radzymińska-Chruściel B, Siwińska A, Respondek-Liberska M.: Selected data from Polish National Registry of Fetal Cardiac Pathology for the year Quo vadis?. Prenat Cardio (previously Polska Kardiologia Prenatalna Echo Płodu) 2013, 1(8): Respondek-Liberska M.: Polish National Registry for Fetal Cardiac Pathology dat from year Prenat Cardio (previously Polska Kardiologia Prenatalna Echo Płodu) 2012, 1(3): Respondek-Liberska M, Szymkiewicz-Dangel J, Tobota Z, Słodki M.: The goal and preliminary conclusions from the Polish National Registry for Fetal Cardiac Pathology ( Pol. Przegl. Kardiol. 2008, 10(2): Słodki M, Szymkiewicz-Dangel J, Tobota Z, Seligman NS, Weiner S, Respondek-Liberska M.: The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors. Prenat. Diagn. 2012, 32(5): Szymkiewicz-Dangel J, Dębska M, Koleśnik A, Kretowicz P, Sękowska A, Dębski R.: Succesfull aortic valvuloplasties in fetuses the new era and new challenge for Polish perinatal cardiology. Prenat Cardio 2012, 2(4): Respondek-Liberska M, Polaczek A, Słodki M, Janiak K, Dryżek P, Moll J, Moll J.: Selected clinical problems of 56 fetuses and 38 neonates with critical aortic stenosis. Prenat Cardio 2012, 1(3): Diaz MC, Gotteiner NL, Young LT, McElhinney DB, Tworetzky W.: Low rate of prenatal diagnosis among neonates with critical aortic stenosis: insight into the natural history in utero. Journal Ultrasound Obstet Gynecol. 2015, 45 (3): doi: /uog Respondek-Liberska M.: Atlas wad serca u płodu. Łódź 2011, ADI ART 9. Słodki M.: Prenatal and perinatal management for pregnant women with fetal cardiac defects based on new prenatal cardiac anomalies classification. Medical University Łódź 2012, Habilitation thesis 10. Szwast A, Rychik J.:Prenatal diagnosis of hypoplastic left heart syndrome: can we optimize outcomes? J Am Soc Echocardiogr. 2013, 26 (9): Respondek-Liberska M, Dangel J, Włoch A.: Certificate of Fetal Heart Screening (Basic level) Section of Prenatal Echocardiography and Prenatal Cardiology of the Polish Ultrasound Society. Ultrasonografia 2006, 25: Respondek-Liberska M, Dangel J, Włoch A.: Certificate of Fetal Heart Echocardiography examination (an advanced level) Section of Prenatal Echocardiography and Prenatal Cardiology of the Polish Ultrasound Society. Ultrasonografia 2006, 25: Słodki M, Dangel J, Respondek-Liberska M.: The National Registry for Fetal Cardiac Pathology in Poland ( is the core of a novel national system to assess the competence of ultrasonographers in fetal echocardiography. Ultrasound Obstet. Gynecol. 2011, 37: Tegnander E, Eik-Nes SH.: The examiner s ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination. Ultrasound Obstet. Gynecol. 2006, 28(1): Sholler GF, Kasparian NA, Pye VE, Cole AD, Winlaw DS.: Fetal and postnatal diagnosis of major congenital heart disease: implications for medical and psychological care in the current era. J. Paediatr. Child Health. 2011, 47(10): Pinto NM, Keenan HT, Minich LL, Puchalski MD, Heywood M, Botto LD.: Barriers to prenatal detection of congenital heart disease: a population-based study. Ultrasound Obstet. Gynecol. 2012, 40(4): Levi S.: Mass screening for fetal malformations: the Eurofetus study. Ultrasound Obstet. Gynecol. 2003, 22(6): Materna-Kiryluk A.: Polish Registry of Congenital Malformations as a source of epidemiology, etiology and plans for medical care. Medical University K. Marcinkowskiego, Poznań Lusawa T, Szymański P, Siudalska H, Hoffman P.: Rejestr dorosłych z wrodzoną wadą serca. Folia Cardiol. 2002, 9(1): 9-11 Individual part in creating the manuscript: Paulina Kordjalik: first draft of manuscript, charts, statistical analysis, submission for publication Beata Radzymińska-Chruściel: manuscript evaluation, discussion, literature search Maciej Słodki: manuscript evaluation, discussion, literature search Agata Włoch: manuscript evaluation Joanna Szymkiewicz-Dangel: manuscript evaluation, literaturę search Maria Respondek-Liberska: concept of the research, references, discussion, English translation, final version of the manuscript

13 Original paper PRENATAL QUALIFICATION FOR POSTNATAL BALLOON VALVULOPLASTY IN ISOLATED CRITICAL PULMONARY VALVE STENOSIS BASED ON 10 CASES FROM A TERTIARY CENTRE OF FETAL CARDIOLOGY Authors: Joanna Płużańska 1, Paweł Dryżek 2, Hanna Moczulska 1.3, Maciej Słodki 1,4, Michał Krekora 5, Ewa Gulczyńska 5, Tomasz Moszura 2, Jadwiga Moll 2, Maria Respondek-Liberska 6,1 1. Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute 2. Pediatric Cardiology Department, Research Institute Polish Mother's Health Center 3. Department of Genetics, Polish Mother's Memorial Hospital Research Institute 4. Institute of Health Sciences. The State School of Higher Professional Education in Plock 5. Polish Mother's Memorial Hospital Research Institute 6. Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz PRENATAL CARDIOLOGY 2015, 1, (16): DOI /03152 Abstract Pulmonary valve stenosis is a congenital heart defect that is possible to detect and diagnose during prenatal life. We present a retrospective analysis of ten cases with isolated critical pulmonary valve stenosis (IPVS) to establish echocardiographic criteria which could predict the possibility for postnatal balloon valvuloplasty performed shortly after delivery. Key words: Prenatal critical pulmonary valve stenosis, postnatal balloon valvuloplasty INTRODUCTION There is limited data on prenatal isolated pulmonary valve stenosis, which has often been misinterpreted as pulmonary atresia with an intact ventricular septum 1-6. Currently, we should discriminate between these two entities, because both prenatal and postnatal opportunities for intervention may be different. The aim of our study was a retrospective analysis of cases with isolated pulmonary valve stenosis (IPVS) to establish echocardiographic criteria which could predict the possibility for postnatal balloon valvuloplasty performed shortly after delivery. To date, it is one of the first such publications in Poland and one of the very few in the world. MATERIAL AND METHODS From our database (File maker pro), we collected for the first stage of analysis 28 fetuses from with isolated pulmonary valve stenosis (IPVS), including 27 singleton pregnancies and one from a twin pregnancy. No other cardiac or extracardiac anomalies were present in this series. In the second phase of the analysis, those cases which were prenatally qualified for cardiac surgery (valvulotomy and Blalock-Taussig shunt) were excluded. Benign pulmonary valve stenosis (pulmonary valve maximal blood velocity < 2 m/sec) was also excluded as How to Cite this Article: Płużańska J, Moczulska H, Słodki M, Krekora M, Gulczyńska E, Dryżek P, Moszura T, Moll J, Respondek-Liberska M.: Prenatal qualification for postnatal balloon valvuloplasty in isolated critical pulmonary valve stenosis based on 10 cases from a tertiary centre of fetal cardiology. Prenat Cardio 2015, 1 (16): well as cases in which, in addition to pulmonary valve stenosis, there were coexisting features of the Ebstein anomaly, a dysplastic tricuspid valve, functional or structural pulmonary atresia. In the second phase of this analysis, we collected 10 fetuses from the years with prenatal qualification for postnatal balloon valvuloplasty in our tertiary center. All fetal echocardiography and ultrasonography examinations were retrospectively analysed (frozen frames and cine loops). The following parameters were analysed: maternal age, gestational age according to biometrics, fetal estimated weight, reasons for referral for fetal echocardiography, fetal heart size such as heart area/ chest area ratio (HA/CA), pulmonary valve diameter, right ventricular outflow tract (RVOT) diameter, tricuspid valve diameter, maximum blood flow velocity of the tricuspid valve regurgitation, maximum pulmonary blood flow velocity, intraventricular septal thickness, aortic valve diameter, and from M-mode tracings: shortening fraction of the right and left atrium, shortening fraction of the right and left ventricles, type of septal movement, time between last fetal echo and delivery either by cesarean section or vaginal delivery, neonatal birth weight, Apgar score, day of life in which the neonate was discharged from the Corresponding author: majkares@uni.lodz.pl Submitted: , accepted: Copyright 2015 Association for Prenatal Cardiology Development 13

14 : J. Płużańska et. al. Table 1. Fetal echocardiography results in 10 fetuses with critical pulmonary valve stenosis with bidirectional blood flow in mediastinum TR PS PV AV Post stenotic Case Year Gest age HA/CA 4ch Med PV/AV (m/s) (m/s) (mm) (mm) dilatation ,46 Dis(RA) Norma 4 3 5,2 8,6 0,6 5.2/ ,45 Dis(RA) Norma 5,2 2 5,5 6,5 0,8 7.1/ ,3 0,46 Dis Dis 3 2,2 2,3 6 0,8 2.3/ ,4 Dis(RA)RV Norma 4, ,28 2.5/6.8 hypertrophy ,38 Normal Norma 2,3 3,1 2,7 6,4 0,38 2.7/ ,3 0,44 Normal Dis 4,7 3,6 5,9 5,4 1,46 5.9/ ,4 0,45 Normal Dis 3,5 3,8 5,2 8 0, ,6 0,53 Normal Dis 4 3,3 7,8 7, / ,3 Dis Dis 3 4 8,5 8, / , ,43 RVH Dis 3,2 3, /12 Mean 29,66 0,43 3,74 3,18 5,11 7,09 0,77 STD ratio 4,41 0,06 0,89 0,67 2,2 1,07 0,35 HA/CA heart area/chest area, TR tricuspid valve regurgitation, PS pulmonary valve max velocity, PV pulmonary valve diameter, Av aortic valve diameter, PV/ AV : ratio; Dis- disproportion; Med- mediastinum hospital, and finally follow-up. The reference values for RVOT and tricuspid valve were taken from monograms 3. The main goal of our retrospective analysis was to look for prenatal echocardiographic criteria which would allow for the prenatal assessment of postnatal management in / pulmonary valve stenosis: 14 being considered as either a critical heart defect with prostin infusion and urgent neonatal valvuloplasty max up to 3 rd day of postnatal life or planned heart defect with later cardiac surgery (with previous prostin administration). RESULTS The mean maternal age was /- 3.2 years; the mean gestational age at the time of first diagnostic echocardiography according to the biometry was 30 +/- 2 days For 7 fetuses, there was information about nuchal translucency (NT) in the first trimester; the mean value was /0.7 mm (minimum 0.7, maximum 2.7 mm). All fetuses were referred to our tertiary center following positive screening performed by obstetricians. The earliest time of detection of the anomaly was at 22 weeks of gestation and the latest was in the 37th week of gestation. The mean estimated fetal weight was 1876+/956g; in 8/10 fetuses the weights were appropriate for gestational age and in two fetuses the weights were reduced in relation to gestational age. In all 10 fetuses, the mean pulsatility index (PI) for the umbilical artery was (1.2 +/- 0.1). By echocardiography, the heart size HA/CA was /-0.06 ( minimum 0.3, maximum 0.53) in one case it was Case Year Gest RA SF(%) LA SF RV SF LV SF SEP SEP age (%) (%) (%) (mm) motion paradox paradox , ,5 paradox paradox , , ??? 61 3,9 paradox , , , ,4 paradox 30????????? 58 3,5 paradox Mean 30,2 24,4 34,6 25,42 44,87 4,37 STD 4,41 14,18 13,4 21,69 11,92 1,2 Table 2: Fetal echocardiography data from M-mode tracings in 10 fetuses with critical pulmonary valve stenosis (measurements were not possible in all of the cases) normal (0,3). All fetuses had tricuspid valve regurgitation, with a mean value of 3,74 +/- 0,89 m/s and all had increased pulmonary blood flow: mean value / m/s (Table 1). In 6 fetuses, the 4 chamber view was abnormal with right atrial enlargement (disproportion at the atrial level or atrial and chamber level). In 4 fetuses, the 4 chamber view was normal and in two cases there was right ventricular hypertrophy (RVH). The mean diameter of the pulmonary valve was 5,11 mm ranging from 2mm (at 25 weeks of gestation) up to 8.5 mm (at 37 weeks of gestation)(fig. 1 and 3). All fetuses presented an abnormal mediastinal Doppler blood flow with poststenotic pulmonary outflow dilatation (lack of data for one fetus). All fetuses, had significant tricuspid valve regurgitation (mean value 3,74 +/- 0,89 m/s, with a maximum pressure gradient 60mm Hg). In all fetuses, there was turbulent pulmonary blood flow (mean / m/s, with a maximum pressure gradient of 45.7mmHg. The diameter of the aortic valve ranged from 5.4 mm up to 8.6 mm (Fig.4). The pulmonary valve/ aortic valve ratio was In 8 fetuses there was 14

15 Prenatal qualification for postnatal balloon valvuloplasty in isolated critical pulmonary valve stenosis based on 10 cases from a tertiary centre of fetal cardiology significant post-stenotic right ventricular outflow tract dilatation (Table 1). In four fetuses, the shortening fraction of the left atrium (LA SF) was higher than shortening fraction for the right atrium (RA SF). In 3 fetuses, the shortening fraction of the right ventricle was diminished and paradoxical interventricular septal movement was present. In three fetuses, hyperkinesis of the left ventricle was present (Table 2). The time gap between the last echocardiography and delivery was mean 8 days (minimum 2 days, maximum 20 days). Deliveries occurred at mean gestational age of 37,3 +/- 1,7 weeks. 8 cases were delivered by Cesarean section (Table 3) and there were two vaginal deliveries. The mean birth weight was /- 576 g and the mean Apgar score was 7.5 +/-1.1. There were 7 girls and 3 boys. Pulmonary valve stenosis may be present in both singleton or multiple (in our series case 4) pregnancies. It may be an isolated anomaly (present in our series), or it may coincide with Williams syndrome, Noonan syndrome, or microdeletion of chromosome 22q11. Prenatal detection and diagnosis of pulmonary valve stenosis has been possible for 25 years. Pulmonary valve stenosis is a heterogenous malformation. During embryogenesis, the 3 leaflets of the pulmonary valve may initially develop normally, but later on grow thicker, less loose and may become secondarily obliterated, resulting in a small hole or even turning completely atretic before delivery. Pulmonary blood flow is ductal-dependent under these circumstances; both before and after delivery, normal blood circulation is Balloon valvuloplasty was performed on the 2nd or 3rd day after delivery in 8 out of 10 newborns. One neonate with prenatal measurement of the pulmonary valve being 2,3mm (birth weight 2300g, year 2007) had sinusoids detected during prenatal and postnatal echocardiography and cardiac catheterization, and qualified for cardiac surgery and a pulmonarysystemic shunt. He never left the hospital and died at 6 weeks after delivery. The other neonate had RV hypertrophy and tricuspid valve regurgitation, and qualified for cardiac surgery instead of balloon valvuloplasty in After delivery, there was no forward flow across the pulmonary valve. Based on fetal echocardiography, 3 weeks prior to delivery, forward flow was seen. The mean time of hospital stay after delivery for the 8 neonates who underwent valvuloplasty was 14 days. DISCUSSION Pulmonary valve stenosis is a congenital heart defect that is possible to detect and diagnose during prenatal life using an electronic stethoscope in the form of targeted echocardiography at a referral center for fetal cardiology. The prevalence of this malformation according to Hernandez at al. is 1:22,000, and it is present in 8-10% of children with congenital heart defects 7. In the National Polish Registry for Fetal Cardiac Anomalies ( in the years , this anomaly was 18th in place among the most common fetal cardiac heart defects 9. Figure 1. Poststenotic dilatation of right ventricular outlow tract in the fetus with critical pulmonary valve stenosis (successful postnatal valvuloplasty) Figure 2 Tricuspid valve regurgitation in fetus with critical pulmonary valve stenosis Copyright 2015 Association for Prenatal Cardiology Development 15

16 : J. Płużańska et. al. Gest age Delivery Birth weight (g) Apgar Day after delivery of BVP Follow-up V Death on day 9 (bronchopneumonia purulenta) CS BTS 5th day Death at 16 days CS BTS Sinusoids in catheterisation Death at 6 weeks of hospitalisation Twin pregnancy 32 CS Discharge from hospital at 40 days with 25mmHg gradient. At 5 years of age no cardiac clinical symptoms CS Initial good result after BVP:gradient 12mmHg, 2 wks later:50mmhg and significant TR Surgery at the age of 3,5 years- transannular patch with homograft and TV repair V At the age of 5 months gradient 10 mmhg CS At the age of 3 months gradient 30 mmhg CS At the age of 2 months gradient 51 mmhg CS wks gradient 20 mmhg, no clinical symptoms /14 39 CS BTS After delivery no flow across PV, TR gradient 120mmHg. Cardiac surgery. Mean 37, ,5 STD 1,7 576,88 1,17 CS cesarean section, V-vaginal delivery, BTS Blalock-Taussig shunt Table 3: Follow-up of 10 fetuses and neonates with prenatal diagnosis of critical pulmonary valve stenosis. dependent on a patent ductus arteriosus. Haemodynamic consequences of diminished pulmonary blood flow may be secondary hypoplasia of the right ventricle, or hypertrophy, crossing over the narrow pathway of the right ventricular outflow tract. This anomaly may be associated with abnormal connections of coronary vessels. In our series, one fetus was prenatally suspected of having such an anomaly which was later confirmed postnatally during cardiac catheterisation. Despite cardiac surgery, the baby died at 6 weeks of age (Table 3, case nr 3). In the case of prenatal right ventricular hypoplasia, after delivery there is usually a single ventricle circulation (Table 3, case nr 10). In 1988, Todros et al. 4 published a case report describing normal heart anatomy at 20 weeks of gestation and detection of this heart defect at 34 weeks, suggestive of Non urgent fetal congenital heart defect (surgery not required in the first month of postnatal life) Urgent fetal congenital heart defect (ductal dependent, prostin administration is required and planned cardiac surgery in the 1st month after delivery) Critical fetal congenital heart defect (ductal dependent, prostin administration is required as well as urgent catheterisation with valvuloplasty or Rashkind procedure) The most severe congenital heart defect: resuscitation is not recommended, conservative approach Types of heart defects based on prenatal diagnosis and prognosis for postnatal management: 16 prenatal progression of this anomaly. A similar conclusion came from Mexico 8 : at 22 weeks of gestation, the pulmonary pressure gradient was 15 mm Hg and at 35 weeks, 47 mm Hg. Our observation confirms these suggestions that prenatal pulmonary stenosis may result in pulmonary atresia at delivery (Table 3, case nr 10). Taking into consideration the possible progression of this anomaly in the second half of pregnancy and a future single ventricle circulation, the idea of fetal valvuloplasty was suggested by a team of coworkers: a fetal cardiologist and a fetal surgeon-obstetrician; it was initially performed experimentally in sheep and later in human fetuses 10, 11,12,13. Thus, prenatal detection, accurate diagnosis and proper intervention at the appropriate time might change the natural course of congenital pulmonary valve stenosis. Intrauterine surgery is not a common practice and no more than 5 perinatal centers in the world are offering this type of procedure. Prenatal valvuloplasty is not 100% effective, as it may lead to complications and result in premature delivery. Thus, an alternative to this prenatal procedure has been proposed, with in utero transport to a tertiary

17 Prenatal qualification for postnatal balloon valvuloplasty in isolated critical pulmonary valve stenosis based on 10 cases from a tertiary centre of fetal cardiology without prenatal diagnosis. Pulmonary valvuloplasty was performed by 6th day of life, up until 28 days, and in the second month of life. It was suggested that improvement of the right ventricle Tei index occurred earlier in the prenatal group (after 1 month), in contrast to the postnatal group (after 1 year). This suggests not only a shorter time of hypoxemia, but also better regeneration of heart muscle in newborns who underwent early valvuloplasty (p<0,05). Thus, with a prenatal diagnosis of pulmonary valve stenosis, there are several options for management: to do nothing, to perform pulmonary valvuloplasty before delivery, or just after delivery 17. Figure 3. Pulmonary valve in 8 fetuses who underwent postnatal pulmonary valvuloplasty and 2 fetuses who had cardiac surgery, superimposed on Z-score Lee at al Figure 4. Aortic Valve measurement in 8 fetuses who underwent postnatal pulmonary valvuloplasty and 2 fetuses who had cardiac surgery, superimposed on Z-score Lee at al center, such as our hospital, where balloon valvuloplasty might be offered just after delivery. In cases of a well-developed right ventricle the patient is qualified for catheterisation and an attempt to perform balloon valvuloplasty on the stenotic pulmonary valve is made. After effective treatment, administration of prostaglandin E1 can be discontinued. In the case of coexisting hypoplastic pulmonary arteries, despite effective balloon valvuloplasty and expansion of valve, sometimes to ensure optimal pulmonary flow, it may be necessary to maintain ductal patency or to surgically perform a systemic to pulmonary shunt. We believe, based on our experience and analysis presented here, that this is a good way of clinical management. The first publications on prenatal detection of pulmonary valve stenosis and neonatal valvuloplasty after elective cesarean sections came from India, Taiwan and Mexico 14,15,16. Chinese authors 17 in 2013 suggested the advantages of early pulmonary valvuloplasty in contrast to late pulmonary valvuloplasty (> 6th day). They compared 7 newborns after prenatal diagnosis and 14 newborns The best option cannot be decided upon the basis of a single echocardiographic parameter. Using, in addition to the 4 chamber view in obstetric screening with the use of Doppler, a mediastinal window is the best way to detect this malformation 18. Our observation confirms this opinion, as all ten cases were accurately diagnosed by obstetricians. Although even in a tertiary center for fetal cardiology, a Doppler gradient assessment alone may produce false negative results, especially in a case of RV dysfunction. Different groups analysed different parameters such as tricuspid valve diameter, mitral valve diameter, the length of the RV and LV, diameter of the RVOT and LVOT (right and left ventricular outflow tracts) and their relations to qualitative indexes, as a basis for the best decision. The weak point of these publications was the large diversity of the analyzed material, a high percentage of termination of pregnancies, a very long time of observation, and the very variable clinical status of the newborns: from cases without any clinical symptoms to demise of newborns. Apart from all of that data, the authors had compiled a mixture of cases of prenatal critical pulmonary stenosis and pulmonary atresia, both with an intact septum or with VSD. Therefore we decided to perform a retrospective analysis of our own data. According to our experience, we made an accurate assessment for prenatal qualification for postnatal balloon valvuloplasty in 8 out of 10 cases. According to the guidelines used by us to define heart defects prenatally, there are certain critical congenital heart defects, such as cases with a ductal dependent circulation, that require urgent valvuloplasty (before the 3rd day of postnatal life). Two of 10 cases had an alternative diagnosis, namely coronary sinusoids and right ventricular hypertrophy. One of the legal options in the case of early detection of a congenital heart defect in Poland and other countries, is termination of pregnancy. However, according to the data from the National Polish Registry, this option was chosen in less than 10% of cases. This in contrast to other countries: in Italy 7, termination rate for pregnancies was 43%, in Great Britain 22 60%, and in Canada 40% 5. In prenatal cardiology, the classification used regards to type of delivery and postnatal management according Copyright 2015 Association for Prenatal Cardiology Development 17

18 : J. Płużańska et. al. to predicted time of intervention (Table 4), this being, our data confirms that based on prenatal echocardiography not only diagnosis, but also prognosis and planned postnatal management can be made. Isolated critical pulmonary stenosis in the majority of cases fits into the critical group of congenital heart defect, not only due to a ductal dependent circulation but also due to planned urgent valvuloplasty. 18 CONCLUSIONS In our fetal tertiary cardiology center, in 8/10 cases, prenatal assessment for postnatal early balloon valvuloplasty was correct in 80%. There is no single echocardiographic parameter that we may use for such a decision; however, progression of right ventricular hypertrophy, progression of the pulmonary valve pressure gradient over a couple of weeks and the presence of sinusoids were established as predictors of suboptimal outcome. Prenatal critical pulmonary valve stenosis with a maximum blood flow velocity > 3 m/s in the majority of cases was considered as being a critical congenital heart defect, rather than an severe congenital heart defect according to our prenatal classification of heart defects. References 1. l Louali F, Villacampa C, Aldebert P, Dragulescu A, Fraisse A.: Pulmonary stenosis and atresia with intact ventricular septum. Arch Pediatr 2011, 3 (18): Morris CA.Williams Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; Sharland GK, Allan LD.:, Normal fetal cardiac measurements derived by cross-sectional echocardiography. Ultrasound Obstet Gynecol 1992, 2: Todros T, Presbitero P, Gaglioti P, Demarie D.: Pulmonary stenosis with intact ventricular septum: documentation of development of the lesion echocardiographically during fetal life. Int J Cardiol. 1988, 3 (19): Maeno YV, Boutin C, Hornberger LK, McCrindle BW, Cavallé-Garrido T, Gladman G, Smallhorn JF.: Prenatal diagnosis of right ventricular outflow tract obstruction with intact ventricular septum, and detection of ventriculocoronary connections. Heart 1999, 6 (81): Daubeney PE, Sharland GK, Cook AC, Keeton BR, Anderson RH, Webber SA.: Pulmonary atresia with intact ventricular septum: impact of fetal echocardiography on incidence at birth and postnatal outcome. UK and Eire Collaborative Study of Pulmonary Atresia with Intact Ventricular Septum. Circulation 1998, 6 (98): Todros T, Paladini D, Chiappa E, Russo MG, Gaglioti P, Pacileo G, Cau MA, Martinelli P.: Pulmonary stenosis and atresia with intact ventricular septum during prenatal life. Ultrasound Obstet Gynecol 2003, 3 (21): Hernández Herrera RJ, Ramírez Sanchez LF, Ochoa Torres M, Yáñez Sánchez JM, García Quintanilla F.: Prenatal diagnosis of pulmonary valve stenosis and immediate neonatal valvuloplasty. Ginecol Obstet Mex. 2009, 9 (77): Kordjalik P, Respondek-Liberska M, Słodki M, Tobota Z, Radzymińska- Chruściel B, Siwińska A, Szymkiewicz-Dangel J.: Pulmonary valvar stenosis in Polish National Registry for Fetal Cardiac Malformation. Prenat Cardio 2014, 1 (12): Kohl T, Szabo Z, Suda K, Petrossian E, Ko E, Kececioglu D, Moore P, Silverman NH, Harrison MR, Chou TM, Hanley FL.: Fetoscopic and open transumbilical fetal cardiac catheterization in sheep. Potential approaches for human fetal cardiac intervention. Circulation 1997, 4 (95): Huhta J, Quintero RA, Suh E, Bader R.: Advances in fetal cardiac intervention.curr Opin Pediatr 2004, 5 (16): Tulzer G, Arzt W, Franklin RC, Loughna PV, Mair R, Gardiner HM.: Fetal pulmonary valvuloplasty for critical pulmonary stenosis or atresia with intact septum. Lancet 2002, 360 (9345): Arzt W, Tulzer G.: Fetal surgery for cardiac lesions. Prenat Diagn. 2011, 7 (31): Vajifdar BU, Gupta AK, Kerkar PG, Kulkarni HL.: Pre-natal echocardiographic diagnosis and neonatal balloon dilatation of severe valvar pulmonic stenosis. Indian J Pediatr 1999, 5 (66): Galindo A, Gutiérrez-Larraya F, Velasco JM, de la Fuente P.: Pulmonary balloon valvuloplasty in a fetus with critical pulmonary stenosis/atresia with intact ventricular septum and heart failure. Fetal Diagn Ther 2006, 1 (21): Hsiao SM, Wu MH, Shih JC, Hsieh FJ..In utero progressive pulmonary stenosis successfully treated with transcatheter intervention after delivery. J Formos Med Assoc 2001, 5 (100): Zhou KY, Hua YM, Wang YB, Zhu Q, Mu DZ, Tang J, Zhou R, Wang C, Li YF, Shi XQ.: Perinatal integrative intervention for critical pulmonary artery valve stenosis. Zhonghua Er Ke Za Zhi 2013, 8 (51): Donofrio MT, Levy RJ, Schuette JJ, Skurow-Todd K, Sten MB, Stallings C, Pike JI, Krishnan A, Ratnayaka K, Sinha P, duplessis AJ, Downing DS, Fries MI, Berger JT.: Specialized delivery room planning for fetuses with critical congenital heart disease. Am J Cardiol 2013, 5 (111): Yoo SJ, Lee YH, Kim ES, Ryu HM, Kim MY, Choi HK, Cho KS, Kim A.: Three-vessel view of the fetal upper mediastinum: an easy means of detecting abnormalities of the ventricular outflow tracts and great arteries during obstetric screening. Ultrasound Obstet Gynecol 1997, 3 (9): Castor S, Fouron JC, Teyssier G, Sonnesson SE, Chartrand C, Skoll A.:.Assessment of fetal pulmonic stenosis by ultrasonography. J Am Soc Echocardiogr. 1996, 6 (9): Peterson RE, Levi DS, Williams RJ, Lai WW, Sklansky MS, Drant S.: Echocardiographic predictors of outcome in fetuses with pulmonary atresia with intact ventricular septum. J Am Soc Echocardiogr 2006, 11 (19): Gardiner HM, Belmar C, Tulzer G, Barlow A, Pasquini L, Carvalho JS, Daubeney PE, Rigby ML, Gordon F, Kulinskaya E, Franklin RC.: Morphologic and functional predictors of eventual circulation in the fetus with pulmonary atresia or critical pulmonary stenosis with intact septum. J Am Coll Cardiol 2008, 13 (51): Roman KS, Fouron JC, Nii M, Smallhorn JF, Chaturvedi R, Jaeggi ET. : Determinants of outcome in fetal pulmonary valve stenosis or atresia with intact ventricular septum. Am J Cardiol 2007, 5 (99): Hornberger LK, Benacerraf BR, Bromley BS, Spevak PJ, Sanders SP.: Prenatal detection of severe right ventricular outflow tract obstruction: pulmonary stenosis and pulmonary atresia. J Ultrasound Med. 1994, 10 (13): Lee W1, Riggs T, Amula V, Tsimis M, Cutler N, Bronsteen R, Comstock CH.: Fetal echocardiography: z-score reference ranges for a large patient population. Ultrasound Obstet Gynecol. 2010, 1 (35): Contribution of the authors in this research: Joanna Płużańska: charts, English corrections, search for references, submitting manuscript for publication Hanna Moczulska: discussion Maciej Słodki: discussion Michał Krekora: discussion Ewa Gulczyńska: discussion Paweł Dryżek: collecting data for the research, discussion: Tomasz Moszura: discussion Jadwiga Moll: discussion Maria Respondek-Liberska: concept of the research, concept of the tables, discussion, final version of the manuscript Conflict of interest: The authors declare no conflict of interest Authors do not report any financial or personal links with other persons or organizations, which might affect negatively the content of this publication and/or claim authorship rights to this publication

19 Original paper MISSED DOWN SYNDROME AND CONGENITAL HEART DEFECT IN PRENATAL ULTRASOUND (US) - MALPRACTICE OR NOT? OPINIONS OF 12 EXPERTS Author: Maria Respondek-Liberska Department of Prenatal Cardiology, Polish Mother s Memorial Hospital Research Institute, Department of Diagnoses and Prevention of Fetal Malformations Medical University of Lodz, Poland PRENATAL CARDIOLOGY 2015, 1, (16): DOI /03153 Abstract An example of missed Down syndrome with congenital heart defect by prenatal ultrasound evaluation was presented. A jury of 12 physicians, experts in prenatal ultrasonography and echocardiography were asked in questionare was this malpractice or not. The answers were very different. The results of the questionaires were discussed with the background to the selected data from Eurocat, from Polish National Prenatal Cardiac Registry, from Polish Registry of Congenital Malformations by 2nd year of life, and financial data of the Polish Prenatal Program in Lodz Region. Should we increase the cost of screening or the cost of ultrasound and echo training? Or just provide patients with better knowledge regarding the differences between expertise of primary care obstetricians and experts in referral centers. Key words: Down syndrome, congenital heart defect, prenatal adn malpractice INTRODUCTION The problem of a diagnostic mistake upon ultrasound examination is not new, however relatively rare discuss among the physicians in a scientific manner. Here is a an attempt to make such ana analysis. CASE AS THE SUBJECT OF ANALYSIS A healthy 29-year old woman in her 2 nd pregnancy, with a negative family history, and negative gynecological and medical history, remained under care of an obstetrician with fifteen years of clinical practice. The patient s first child was born healthy 2 years ago. Regular visits confirmed a normal course of pregnancy. Serum screening for fetal aneuploidy and NTD were negative. The ultrasound examinations were regularly performed and had revealed no abnormalities since the sixth week of pregnancy. At the time of the week scan, the NT measured 1.8 mm, flow in the ductrus venosus was normal, and there was no tricuspid valve regurgitation. Collectively, she had 12 prenatal visits and 10 ultrasound examinations. The How to Cite this Article: Respondek-Liberska M.: Missed Down syndrome and congenital heart defect in prenatal ultrasound (US) - malpractice or not? Opinions of 12 experts. Prenat Cardio 2015, 1 (16): patient gave birth to a newborn which weighed 3500 g, APGAR 9 with typical phenotype of Down syndrome (DS) and a heart defect of complete atrio-ventricular septal defect. Mother and child were discharged home on the 5 th day after delivery. According to the classification of heart defects in prenatal cardiology, complete atrio-ventricular septal defect is a severe malformation but without the necessity of cardiac surgical intervention in the neonatal period. Cardiac surgery is performed most commonly at the 3 rd 6 th month of life, but DS remains. METHODS AND MATERIALS Twelve experts in prenatal ultrasound physicians with a Basic Certificate of Fetal Heart Examination (of the Polish Ultrasound Society) or a Certificate of Echocardiographic Fetal Heart Examination (advanced) and laureates of Dr. Andrzej Respondek Prize - were asked to fulfill the questionnaire with 11 detailed questions. Corresponding author: majkares@uni.lodz.pl Submitted: ; accepted: Copyright 2015 Association for Prenatal Cardiology Development 19

20 : M. Respondek-Liberska Questionaire 1. If the obstetrician had informed the pregnant woman that the likelihood of detecting a fetal cardiac malformation in his office was lower than 50% A) he did not make a diagnostic error B) he still made a mistake (missed Down syndrome) C) it is hard to say 2. The obstetrician is obligated to perform a fetal heart examination. It is a separate diagnostic procedure performed by fetal cardiac refferal centers and pregnant women should know about this. A) I do agree B) I do not agree C) it is hard to say 3. An obstetrician, after making such a severe mistake, should be retrained (at his/her own expense) during the next 6 months at the referral prenatal cardiology center type C (the highest referral center) to be able to discriminate normal from abnormal heart. A) I do agree B) I do not agree C) it is hard to say 4. An obstetrician, following such a severe mistake (failure to detect ds or heart abnormality), should pay large damages to the family, or should cover social allowances for the handicapped child (answer A); or he should not cover any financial expenses, and those should be paid by his insurance (answer B) A) I do agree B) I do not agree C) it is hard to say 5. An obstetrician has no obligation to detect congenital malformations. It is desirable if he/she can do so, but his major obligations is to take care of a pregnant woman and to deliver her baby in good condition. In this particular case, there was normal pregnancy and the fetus and neonate were in clinically stable condition. A) I do agree B) I do not agree C) it is hard to say 6. Patients and pregnant women should be better informed regarding the spectrum of fetal echocardiographic examinations, and they should not demand detailed analysis of fetal heart from primary care obstetrician, as it is a separate procedure. A) I do agree B) I do not agree C) it is hard to say 7. In my career in ultrasonography/echocardiography I have never made a mistake A) I do agree B) I do not agree C) it is hard to say 8. The detection of Down sydrome with a heart malformation is A) very difficult B) is relatively easy C) I have no opinion 9. Ultrasonographic/echocardiographic errors should be unveiled, discussed and analyzed in order to learn from them rather than repeat them. A) I do agree B) I do not agree C) it is hard to say 10. Ultrasonographic/echocardiographic errors are made so rarely, that since we perform hundreds of examinations, we should not discuss them so extensively. They are inherent to medical practice for all of us, and they are the personal problem of every physician. A) I do agree B) I do not agree C) it is hard to say 11. Did the obstetrician under discussion: A) make an error and he should therefore suffer the consequences? B) did not make an error and he should not suffer the consequences? C) I have no opinion. RESULTS Results of the analysis of the questionnaire (with initials of jury members) are given in Table 1. Question 1 (Q1). The majority (7/12; 60%) choose answer A, which stated that if the obstetrician had informed the pregnant woman that the likelihood of detecting a fetal cardiac malformation by his examination was lower than 50% and fetal heart examination is a separate examination performed by an expert, he did not make a diagnostic error. Q2. The majority (8/11) choose answer B, suggesting that an obstetrician should perform a fetal heart examination. Q3. The majority choose answer A, which stated that an obstetrician after making such a severe mistake should be re-trained (at his/her own expense) during next 6 months at the centre of prenatal cardiology type C (the highest referral center) to be able to discriminate a normal from abnormal heart. Q4. The majority answered B : to the following statement an obstetrician following such a severe mistake (failure to detect ds or heart abnormality) should pay large damages to a family, or should cover social allowances for the handicapped child (answer A); or he/she should not cover any financial expenses while those should be paid by his insurance (answer B). Q5. To the statement an obstetrician has no obligation to detect congenital malformations. It is desirable if he/ she can do so but his major obligation is to take care for the pregnant woman; in case under discussion, both fetus and newborn were fully cardiologically viable. The majority answered that they disagree with it. 20