Missed Down Syndrome and Congenital Heart Defect in Prenatal Ultrasound (Us) - Malpractice or Not? Opinions of 12 Experts

Open access

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

1. Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Mullaney C, Nelen V, Neville AJ, O’Mahony M, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Rounding C, Sipek A, Stoianova S, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H.: Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet 2014, Part A 9999: 1-8

2. Krajowy Zespół Programu Monitorowania i Poprawy Pierwotnej Profilaktyki Wrodzonych Wad Rozwojowych w Polsce. Dane niepublikowane, udostępnione przez Przewodniczącą Zespołu prof. dr hab. med. Annę Latos-Bieleńską, Katedra i Zakład Genetyki Medycznej, Uniwersytet Medyczny im. K. Marcinkowskiego w Poznaniu, 2014

3. Kulpa-Podgóreczny A, Respondek-Liberska M.: Noworodek z zespołem Downa. Prenat Cardio. 2013, 3(1): 41-43. [Polish]

4. Juchnowicz-Bierbasz Romuald, Szydłowski Lesław, Sysa Andrzej, Respondek-Liberska Maria. [Effectiveness of prenatal detection of heart defects in Down Syndrome based on bicenters maternal questionnaires]. Prenat Cardio. 2012, 2(4): 10-15. [Polish]

5. Respondek-Liberska M, Nowicki G, Krasoń A, Kaczmarek P, Kociszewska I, Danuta B.: Can we suspect fetal Down syndrome by heart evaluation during the second half of pregnancy? Fetal Diagn Ther 1999, 3 (14): 143-148

6. Krasoń A, Kaczmarek P, Janiak K, Piotrowicz M, Nowicki G, Respondek- Liberska M.:Usefulness of fetal echocardiography in the prenatal diagnosis of Down syndrome based on material from the Department for Diagnosis of Congenital Malformation’s of the Institute „Polish Mother’s Memorial Hospital” in Lodz between 1994-1999. Part I.Ginekol Pol 2002, 3 (73): 177-182

7. Krasoń A, Kaczmarek P, Janiak K, Piotrowicz M, Nowicki G, Respondek- Liberska M.: Usefulness of fetal echocardiography in the prenatal diagnosis of Down syndrome based on material from the Department for Diagnosis of Congenital Malformation’s of the Institute „Polish Mother’s Memorial Hospital” in Lodz between 1994-1999. Part II. Ginekol Pol 2002,73 (3): 183-187

8. Respondek-Liberska M.: Sonograficzne markery zespołów genetycznych. Sonographic markers of genetic syndromes. Przegląd Chirurgii Dziecięcej 2009, 4 (2-3): 29-41

9. Respondek-Liberska A.: Atlas wad serca płodu. Łódź 2011, Adi Art

10. Dangel J.: Diagnostyka prenatalna. Mity i rzeczywistość. Nauka 2007, 3: 31-47

11. Zieliński R, Respondek-Liberska M.: Malformacje twarzoczaszki w prenatalnej ocenie ultrasonograficznej. Craniofacial malformations in prenatal ultrasound evaluation. Literature review. Ginekologia Polska 2013, 83: 801-806

12. Słodki M, Respondek-Liberska M.: Zmienność markerów sonograficznych zespołu Downa pomiędzy 1 a 2 trymestrem ciąży. Ultrasonografia Ginekol Pol 2006, 2: 203-205

13. Smith-Bindman R, Chu P, Goldberg JD.: Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn 2007, 6 (27): 535-544 [Polish]

14. Kaczmarek P, Krasoń A, Janiak K, Nowicki G, Czichos E, Respondek-Liberska M.: The role of fetal echocardiography and genetic sonography in prenatal diagnosis of the Edward’s syndrome - analysis of the thirty case diagnosed at the Department of the Diagnosis for Fetal Malformations at the Institute „Polish Mother’s Memorial Hospital”. Ginekol Pol 2002, 7 (73): 500-515

15. Janiak K, Kaczmarek P, Krasoń A, Nowicki G, Piotrowicz M, Respondek- Liberska M.: The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed Patau Syndrome fetuses (case analysis). Ginekol Pol 2002, 73 (7): 606-612 [Polish]

Journal Information

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 67 67 28
PDF Downloads 22 22 17