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Prenatal Detection of Congenital Heart Disease: the Past, Present, and Future

  • Pregnancy and Cardiovascular Disease (N Scott, Section Editor)
  • Published:
Current Treatment Options in Cardiovascular Medicine Aims and scope Submit manuscript

Abstract

Purpose of review

Prenatal diagnosis of congenital heart disease (CHD) is continuously evolving with each passing decade. Early efforts in fetal cardiology focused on identifying CHD in mid-gestation and understanding of fetal circulation in pathologic conditions. Improving prenatal detection rates for CHD remains an ongoing challenge and increasingly the field of fetal cardiology is moving to not only diagnosing CHD prenatally but also assessing the impact of prenatal diagnosis of CHD outcomes. Future directions include earlier diagnosis of fetal CHD, improved diagnostic rates, widespread sonographer education, and a better understanding of antenatal factors that impact outcomes. Our goal in this review is to describe the past, present, and future of prenatal diagnosis of CHD.

Recent findings

There has been a steady improvement in the prenatal diagnosis rate for CHD; however, there remains a significant variation between countries and within the USA. Prenatal diagnosis of CHD allows for counseling and delivery planning in those fetuses with critical CHD, thereby providing parents with resources and important tools while dealing with a challenging situation of carrying a child with heart disease and helping them with important decisions for their family and their future. There are several specific conditions which continue to pose a challenge from a diagnostic standpoint as they may appear mild at the time of initial diagnosis and may be missed but progress through the pregnancy and lead to significant CHD in the neonatal period.

Summary

In summary, continued efforts aimed at collaborative research and education are needed in order to be able to improve CHD detection rates. We need to cautiously assess lesions that appear minor in mid-gestation but have the potential to progress in late gestation. Earlier detection of CHD by means of a transvaginal or a first-trimester fetal echocardiogram may further help families with delivery planning and decision-making.

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References and Recommended Reading

Papers of particular interest, published recently, have been highlighted as: •• Of major importance

  1. Qiu X, Weng Z, Liu M, Chen X, Wu Q, Ling W, et al. Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis. Sci Rep. 2020;10:7564.

    Article  CAS  Google Scholar 

  2. Li YF, Zhou KY, Fang J, Wang C, Hua YM, Mu DZ. Efficacy of prenatal diagnosis of major congenital heart disease on perinatal management and perioperative mortality: a meta-analysis. World J Pediatr. 2016;12:298–307.

    Article  Google Scholar 

  3. Mahle WT, Clancy RR, McGaurn SP, Goin JE, Clark BJ. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–82.

    Article  CAS  Google Scholar 

  4. Khoshnood B, Lelong N, Houyel L, Bonnet D, Ballon M, Jouannic JM, et al. Impact of prenatal diagnosis on survival of newborns with four congenital heart defects: a prospective, population-based cohort study in France (the EPICARD Study). BMJ Open. 2017;7:e018285.

    Article  Google Scholar 

  5. •• Quartermain MD, Pasquali SK, Hill KD, Goldberg DJ, Huhta JC, Jacobs JP, et al. Variation in prenatal diagnosis of congenital heart disease in infants. Pediatrics. 2015;136:e378–85 Highlights the variation of CHD detection rates within the country and the specific congenital heart diseases that have higher and lower detection rates.

    Article  Google Scholar 

  6. Garne E, Stoll C, Clementi M. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol. 2001;17:386–91.

    Article  CAS  Google Scholar 

  7. van Velzen C, Clur S, Rijlaarsdam M, Bax C, Pajkrt E, Heymans M, et al. Prenatal detection of congenital heart disease—results of a national screening programme. BJOG Int J Obstet Gynaecol. 2016;123:400–7.

    Article  Google Scholar 

  8. Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, et al. Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study. BMJ Open. 2019;9:–e028139.

  9. •• Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation. 2014;129:2183–242 First set of official guidelines based on the consensus of fetal cardiology experts around the country for the indications and specific diagnosis of fetal cardiac disease by fetal ultrasound and echocardiography.

    Article  Google Scholar 

  10. AIUM. Practice guideline for the performance of fetal echocardiography. J Ultrasound Med. 2013;32:1067–82.

    Article  Google Scholar 

  11. Carvalho J, Allan L, Chaoui R, Copel J, DeVore G, Hecher K, et al. ISUOG practice guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol. 2013;41:348–59.

    Article  Google Scholar 

  12. Brandt JS, Wang E, Rychik J, Soffer D, McCann ML, Schwartz N. Utility of a single 3-vessel view in the evaluation of the ventricular outflow tracts. J Ultrasound Med. 2015;34:1415–21.

    Article  Google Scholar 

  13. Edwards H, Hamilton R. Single centre audit of early impact of inclusion of the three vessel and trachea view in obstetric screening. Ultrasound. 2018;26:93–100.

    Article  Google Scholar 

  14. Ronai C, Freud LR, Brown DW, Tworetzky W. Low prenatal detection rate of valvar pulmonary stenosis: what are we missing? Prenat Diagn. 2020;40:966–71.

    Article  Google Scholar 

  15. Bronshtein M, Blumenfeld Z, Khoury A, Gover A. Diverse outcome following early prenatal diagnosis of pulmonary stenosis. Ultrasound Obstet Gynecol. 2017;49:213–8.

    Article  CAS  Google Scholar 

  16. Todros T, Paladini D, Chiappa E, Russo MG, Gaglioti P, Pacileo G, et al. Pulmonary stenosis and atresia with intact ventricular septum during prenatal life. Ultrasound Obstet Gynecol. 2003;21:228–33.

    Article  CAS  Google Scholar 

  17. Anuwutnavin S, Satou G, Chang RK, DeVore GR, Abuel A, Sklansky M. Prenatal sonographic predictors of neonatal coarctation of the aorta. J Ultrasound Med. 2016;35:2353–64.

    Article  Google Scholar 

  18. Gomez-Montes E, Herraiz I, Gomez-Arriaga PI, Escribano D, Mendoza A, Galindo A. Gestational age-specific scoring systems for the prediction of coarctation of the aorta. Prenat Diagn. 2014;34:1198–206.

    Article  Google Scholar 

  19. Toole BJ, Schlosser B, McCracken CE, Stauffer N, Border WL, Sachdeva R. Importance of relationship between ductus and isthmus in fetal diagnosis of coarctation of aorta. Echocardiography. 2016;33:771–7.

    Article  Google Scholar 

  20. Arya B, Bhat A, Vernon M, Conwell J, Lewin M. Utility of novel fetal echocardiographic morphometric measures of the aortic arch in the diagnosis of neonatal coarctation of the aorta. Prenat Diagn. 2016;36:127–34.

    Article  Google Scholar 

  21. Kailin JA, Santos AB, Yilmaz Furtun B, Sexson Tejtel SK, Lantin-Hermoso R. Isolated coarctation of the aorta in the fetus: a diagnostic challenge. Echocardiography. 2017;34:1768–75.

    Article  Google Scholar 

  22. Buyens A, Gyselaers W, Coumans A, Al Nasiry S, Willekes C, Boshoff D, et al. Difficult prenatal diagnosis: fetal coarctation. Facts Views Vis Obgyn. 2012;4:230–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  23. Franklin O, Burch M, Manning N, Sleeman K, Gould S, Archer N. Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidity. Heart. 2002;87:67–9.

    Article  CAS  Google Scholar 

  24. Gustapane S, Leombroni M, Khalil A, Giacci F, Marrone L, Bascietto F, et al. Systematic review and meta-analysis of persistent left superior vena cava on prenatal ultrasound: associated anomalies, diagnostic accuracy and postnatal outcome. Ultrasound Obstet Gynecol. 2016;48:701–8.

    Article  CAS  Google Scholar 

  25. Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, et al. Risk factors for coarctation of the aorta on prenatal ultrasound: a systematic review and meta-analysis. Circulation. 2017;135:772–85.

    Article  Google Scholar 

  26. Khalil A, Nicolaides KH. Fetal heart defects: potential and pitfalls of first-trimester detection. Semin Fetal Neonatal Med. 2013;18:251–60.

    Article  Google Scholar 

  27. Carvalho JS. Early prenatal diagnosis of major congenital heart defects. Curr Opin Obstet Gynecol. 2001;13:155–9.

    Article  CAS  Google Scholar 

  28. Rustico MA, Benettoni A, D’Ottavio G, Fischer-Tamaro L, Conoscenti GC, Meir Y, et al. Early screening for fetal cardiac anomalies by transvaginal echocardiography in an unselected population: the role of operator experience. Ultrasound Obstet Gynecol. 2000;16:614–9.

    Article  CAS  Google Scholar 

  29. Rossi AC, Prefumo F. Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol. 2013;122:1160–7.

    Article  Google Scholar 

  30. Hutchinson D, McBrien A, Howley L, Yamamoto Y, Sekar P, Motan T, et al. First-trimester fetal echocardiography: identification of cardiac structures for screening from 6 to 13 weeks’ gestational age. J Am Soc Echocardiogr. 2017;30:763–72.

    Article  Google Scholar 

  31. Arnaout R, Curran L, Zhao Y, Levine J, Chinn E, Moon-Grady A. Expert-level prenatal detection of complex congenital heart disease from screening ultrasound using deep learning. medRxiv. 2020;06(22):20137786.

    Google Scholar 

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Authors and Affiliations

  1. Department of Cardiology, Boston Children’s Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA

    Priyanka Asrani MBBS & Kevin Friedman MD

  2. Department of Pediatrics, Harvard Medical School, Boston, MA, USA

    Priyanka Asrani MBBS & Kevin Friedman MD

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  1. Priyanka Asrani MBBS
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Correspondence to Kevin Friedman MD.

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Priyanka Asrani declares that she has no conflict of interest. Kevin Friedman declares that he has no conflict of interest.

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This article is part of the Topical Collection on Pregnancy and Cardiovascular Disease

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Asrani, P., Friedman, K. Prenatal Detection of Congenital Heart Disease: the Past, Present, and Future. Curr Treat Options Cardio Med 23, 13 (2021). https://doi.org/10.1007/s11936-020-00886-y

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