Skip to main content

Advertisement

SpringerLink
Log in

Prenatal Counseling of Fetal Congenital Heart Disease

  • Pediatric Congenital Heart Disease (G Singh, Section Editor)
  • Published:
Current Treatment Options in Cardiovascular Medicine Aims and scope Submit manuscript

Opinion statement

The field of fetal cardiology has advanced greatly over the last two decades and congenital heart defects can now be identified in utero with a high level of accuracy. Prenatal counseling of parents given the news of a fetal cardiac defect is an important role of the fetal cardiologist. Prenatal counseling is a complex task that requires skill to perform and interpret fetal echocardiograms, an understanding of fetal and postnatal cardiovascular physiology, knowledge of therapeutic and surgical options, and of long-term outcomes including quality of life. Just as important is the manner in which the information is conveyed and the support offered to the parents as these affect parental understanding, influence decision-making, and may impact the parents’ emotional and psychological coping.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References and Recommended Reading

  1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890–900.

    Article  PubMed  Google Scholar 

  2. 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  PubMed  Google Scholar 

  3. Friedberg MK, Silverman NH, Moon-Grady AJ, Tong E, Nourse J, Sorenson B, et al. Prenatal detection of congenital heart disease. J Pediatr. 2009;155:26–31. 31 e21.

    Article  PubMed  Google Scholar 

  4. Sklansky MS, Berman DP, Pruetz JD, Chang RK. Prenatal screening for major congenital heart disease: superiority of outflow tracts over the 4-chamber view. J Ultrasound Med. 2009;28:889–99.

    Article  PubMed  Google Scholar 

  5. Chew C, Halliday JL, Riley MM, Penny DJ. Population-based study of antenatal detection of congenital heart disease by ultrasound examination. Ultrasound Obstet Gynecol. 2007;29:619–24.

    Article  CAS  PubMed  Google Scholar 

  6. 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.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Levy DJ, Pretorius DH, Rothman A, Gonzales M, Rao C, Nunes ME, et al. Improved prenatal detection of congenital heart disease in an integrated health care system. Pediatr Cardiol. 2013;34:670–9.

    Article  PubMed  Google Scholar 

  8. Aium practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med. 2013;32:1083–1101

  9. Evans W, Castillo W, Rollins R, Luna C, Kip K, Ludwick J, et al. Moving towards universal prenatal detection of critical congenital heart disease in southern Nevada: a community-wide program. Pediatr Cardiol. 2015;36:281–8.

    Article  PubMed  Google Scholar 

  10. Diab KA, Awad S. Prenatal detection of congenital heart disease: time for a breakthrough. Pediatr Cardiol. 2014;35:1–2.

    Article  PubMed  Google Scholar 

  11. Nayak K, Chandra GSN, Shetty R, Narayan PK. Evaluation of fetal echocardiography as a routine antenatal screening tool for detection of congenital heart disease. Cardiovasc Diagn Ther. 2016;6:44–9.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Perri T, Cohen-Sacher B, Hod M, Berant M, Meizner I, Bar J. Risk factors for cardiac malformations detected by fetal echocardiography in a tertiary center. J Matern Fetal Neona. 2005;17:123–8.

    Article  Google Scholar 

  13. Mone F, Walsh C, Mulcahy C, McMahon CJ, Farrell S, MacTiernan A, et al. Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms. Prenat Diagn. 2015;35:577–82.

    Article  PubMed  Google Scholar 

  14. Kipps AK, Feuille C, Azakie A, Hoffman JI, Tabbutt S, Brook MM, et al. Prenatal diagnosis of hypoplastic left heart syndrome in current era. Am J Cardiol. 2011;108:421–7.

    Article  PubMed  Google Scholar 

  15. Sivarajan V, Penny DJ, Filan P, Brizard C, Shekerdemian LS. Impact of antenatal diagnosis of hypoplastic left heart syndrome on the clinical presentation and surgical outcomes: the Australian experience. J Paediatr Child Health. 2009;45:112–7.

    Article  PubMed  Google Scholar 

  16. Levey A, Glickstein JS, Kleinman CS, Levasseur SM, Chen J, Gersony WM, et al. The impact of prenatal diagnosis of complex congenital heart disease on neonatal outcomes. Pediatr Cardiol. 2010;31:587–97.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Landis BJ, Levey A, Levasseur SM, Glickstein JS, Kleinman CS, Simpson LL, et al. Prenatal diagnosis of congenital heart disease and birth outcomes. Pediatr Cardiol. 2013;34:597–605.

    Article  PubMed  Google Scholar 

  18. Wright LK, Ehrlich A, Stauffer N, Samai C, Kogon B, Oster ME. Relation of prenatal diagnosis with one-year survival rate for infants with congenital heart disease. Am J Cardiol. 2014;113:1041–4.

    Article  PubMed  Google Scholar 

  19. Oster ME, Kim CH, Kusano AS, Cragan JD, Dressler P, Hales AR, et al. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Am J Cardiol. 2014;113:1036–40.

    Article  PubMed  Google Scholar 

  20. Wan AW, Jevremovic A, Selamet Tierney ES, McCrindle BW, Dunn E, Manlhiot C, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276–9.

    Article  PubMed  Google Scholar 

  21. McBrien A, Sands A, Craig B, Dornan J, Casey F. Major congenital heart disease: antenatal detection, patient characteristics and outcomes. J Matern Fetal Neona. 2009;22:101–5.

    Article  Google Scholar 

  22. Cohen MS, Schultz AH, Tian ZY, Donaghue DD, Weinberg PM, Gaynor JW, et al. Heterotaxy syndrome with functional single ventricle: does prenatal diagnosis improve survival? Ann Thorac Surg. 2006;82:1629–36.

    Article  PubMed  Google Scholar 

  23. Tuo G, Volpe P, Bondanza S, Volpe N, Serafino M, De Robertis V, et al. Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum. J Matern Fetal Neona. 2012;25:669–74.

    Article  Google Scholar 

  24. Fuchs IB, Muller H, Abdul-Khaliq H, Harder T, Dudenhausen JW, Henrich W. Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects. Ultrasound Obstet Gynecol. 2007;29:38–43.

    Article  CAS  PubMed  Google Scholar 

  25. Atz AM, Travison TG, Williams IA, Pearson GD, Laussen PC, Mahle WT, et al. Prenatal diagnosis and risk factors for preoperative death in neonates with single right ventricle and systemic outflow obstruction: screening data from the Pediatric Heart Network Single Ventricle Reconstruction Trial(*). J Thorac Cardiovasc Surg. 2010;140:1245–50.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Calderon J, Angeard N, Moutier S, Plumet MH, Jambaque I, Bonnet D. Impact of prenatal diagnosis on neurocognitive outcomes in children with transposition of the great arteries. J Pediatr. 2012;161:94–8. e91.

    Article  PubMed  Google Scholar 

  27. Chung ML, Lee BS, Kim EA, Kim KS, Pi SY, Oh YM, et al. Impact of fetal echocardiography on trends in disease patterns and outcomes of congenital heart disease in a neonatal intensive care unit. Neonatology. 2010;98:41–6.

    Article  PubMed  Google Scholar 

  28. Morris SA, Ethen MK, Penny DJ, Canfield MA, Minard CG, Fixler DE, et al. Prenatal diagnosis, birth location, surgical center, and neonatal mortality in infants with hypoplastic left heart syndrome. Circulation. 2014;129:285–92.

    Article  PubMed  Google Scholar 

  29. Rychik J, Szwast A, Natarajan S, Quartermain M, Donaghue DD, Combs J, et al. Perinatal and early surgical outcome for the fetus with hypoplastic left heart syndrome: a 5-year single institutional experience. Ultrasound Obstet Gynecol. 2010;36:465–70.

    Article  CAS  PubMed  Google Scholar 

  30. Raboisson MJ, Samson C, Ducreux C, Rudigoz RC, Gaucherand P, Bouvagnet P, et al. Impact of prenatal diagnosis of transposition of the great arteries on obstetric and early postnatal management. Eur J Obstet Gynecol Reprod Biol. 2009;142:18–22.

    Article  CAS  PubMed  Google Scholar 

  31. Swanson TM, Selamet Tierney ES, Tworetzky W, Pigula F, McElhinney DB. Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis. Pediatr Cardiol. 2009;30:256–61.

    Article  PubMed  Google Scholar 

  32. Holland BJ, Myers JA, Woods Jr CR. Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis. Ultrasound Obstet Gynecol. 2015;45:631–8.

    Article  CAS  PubMed  Google Scholar 

  33. Williams IA, Shaw R, Kleinman CS, Gersony WM, Prakash A, Levasseur SM, et al. Parental understanding of neonatal congenital heart disease. Pediatr Cardiol. 2008;29:1059–65.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Bratt EL, Jarvholm S, Ekman-Joelsson BM, Mattson LA, Mellander M. Parent’s experiences of counselling and their need for support following a prenatal diagnosis of congenital heart disease—a qualitative study in a Swedish context. BMC Pregnancy Childbirth. 2015;15:171.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Lalor JG, Devane D, Begley CM. Unexpected diagnosis of fetal abnormality: women’s encounters with caregivers. Birth. 2007;34:80–8.

    Article  PubMed  Google Scholar 

  36. Rosenberg KB, Monk C, Glickstein JS, Levasseur SM, Simpson LL, Kleinman CS, et al. Referral for fetal echocardiography is associated with increased maternal anxiety. J Psychosom Obstet Gynaecol. 2010;31:60–9.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Mellander M. Perinatal management, counselling and outcome of fetuses with congenital heart disease. Semin Fetal Neonatal Med. 2005;10:586–93.

    Article  PubMed  Google Scholar 

  38. 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.

    Article  PubMed  Google Scholar 

  39. Freud LR, Escobar-Diaz MC, Kalish BT, Komarlu R, Puchalski MD, Jaeggi ET, et al. Outcomes and predictors of perinatal mortality in fetuses with ebstein anomaly or tricuspid valve dysplasia in the current era: a multicenter study. Circulation. 2015;132:481–9.

    Article  PubMed  Google Scholar 

  40. Divanovic A, Bowers K, Michelfelder E, Jaekle R, Newman T, Marcotte M, et al. Intrauterine fetal demise after prenatal diagnosis of congenital heart disease: assessment of risk. Prenat Diagn. 2016;36:142–7.

    Article  PubMed  Google Scholar 

  41. Patel A, Costello JM, Backer CL, Pasquali SK, Hill KD, Wallace AS, Jacobs JP, Jacobs ML. Prevalence of noncardiac and genetic abnormalities in neonates undergoing cardiac operations: analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2016.

  42. Fudge Jr JC, Li S, Jaggers J, O’Brien SM, Peterson ED, Jacobs JP, et al. Congenital heart surgery outcomes in down syndrome: analysis of a national clinical database. Pediatrics. 2010;126:315–22.

    Article  PubMed  PubMed Central  Google Scholar 

  43. St Louis JD, Jodhka U, Jacobs JP, He X, Hill KD, Pasquali SK, et al. Contemporary outcomes of complete atrioventricular septal defect repair: analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. J Thorac Cardiovasc Surg. 2014;148:2526–31.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Atz AM, Hawkins JA, Lu M, Cohen MS, Colan SD, Jaggers J, et al. Surgical management of complete atrioventricular septal defect: associations with surgical technique, age, and trisomy 21. J Thorac Cardiovasc Surg. 2011;141:1371–9.

    Article  PubMed  Google Scholar 

  45. Practice bulletin no. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127:e108-122.

  46. Zyblewski SC, Hill EG, Shirali G, Atz A, Forbus G, Gonzalez J, et al. Chromosomal anomalies influence parental treatment decisions in relation to prenatally diagnosed congenital heart disease. Pediatr Cardiol. 2009;30:1105–11.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Menahem S, Grimwade J. Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus. Early Hum Dev. 2003;73:71–8.

    Article  PubMed  Google Scholar 

  48. Arya B, Glickstein JS, Levasseur SM, Williams IA. Parents of children with congenital heart disease prefer more information than cardiologists provide. Congenit Heart Dis. 2013;8:78–85.

    Article  PubMed  Google Scholar 

  49. Chenni N, Lacroze V, Pouet C, Fraisse A, Kreitmann B, Gamerre M, et al. Fetal heart disease and interruption of pregnancy: factors influencing the parental decision-making process. Prenat Diagn. 2012;32:168–72.

    Article  CAS  PubMed  Google Scholar 

  50. Allan LD, Huggon IC. Counselling following a diagnosis of congenital heart disease. Prenat Diagn. 2004;24:1136–42.

    Article  PubMed  Google Scholar 

  51. Cnota JF, Gupta R, Michelfelder EC, Ittenbach RF. Congenital heart disease infant death rates decrease as gestational age advances from 34 to 40 weeks. J Pediatr. 2011;159:761–5.

    Article  PubMed  Google Scholar 

  52. Andrews RE, Simpson JM, Sharland GK, Sullivan ID, Yates RW. Outcome after preterm delivery of infants antenatally diagnosed with congenital heart disease. J Pediatr. 2006;148:213–6.

    Article  CAS  PubMed  Google Scholar 

  53. Costello JM, Polito A, Brown DW, McElrath TF, Graham DA, Thiagarajan RR, et al. Birth before 39 weeks’ gestation is associated with worse outcomes in neonates with heart disease. Pediatrics. 2010;126:277–84.

    Article  PubMed  Google Scholar 

  54. Costello JM, Pasquali SK, Jacobs JP, He X, Hill KD, Cooper DS, et al. Gestational age at birth and outcomes after neonatal cardiac surgery: an analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Circulation. 2014;129:2511–7.

    Article  PubMed  PubMed Central  Google Scholar 

  55. Wallenstein MB, Harper LM, Odibo AO, Roehl KA, Longman RE, Macones GA, et al. Fetal congenital heart disease and intrauterine growth restriction: a retrospective cohort study. J Matern Fetal Neona. 2012;25:662–5.

    Article  Google Scholar 

  56. Graf R, Ghanayem NS, Hoffmann R, Dasgupta M, Kessel M, Mitchell ME, et al. Impact of intrauterine growth restriction on cardiac surgical outcomes and resource use. Ann Thorac Surg. 2015;100:1411–5.

    Article  PubMed  Google Scholar 

  57. Curzon CL, Milford-Beland S, Li JS, O’Brien SM, Jacobs JP, Jacobs ML, et al. Cardiac surgery in infants with low birth weight is associated with increased mortality: analysis of the Society of Thoracic Surgeons Congenital Heart Database. J Thorac Cardiovasc Surg. 2008;135:546–51.

    Article  PubMed  Google Scholar 

  58. Jowett VC, Sankaran S, Rollings SL, Hall R, Kyle PM, Sharland GK. Foetal congenital heart disease: obstetric management and time to first cardiac intervention in babies delivered at a tertiary centre. Cardiol Young. 2014;24:494–502.

    Article  PubMed  Google Scholar 

  59. Sanapo L, Moon-Grady AJ, Donofrio MT. Perinatal and delivery management of infants with congenital heart disease. Clin Perinatol. 2016;43:55–71.

    Article  PubMed  Google Scholar 

  60. Freud LR, Tworetzky W. Fetal interventions for congenital heart disease. Curr Opin Pediatr. 2016;28:156–62.

    Article  PubMed  Google Scholar 

  61. Araujo Junior E, Tonni G, Chung M, Ruano R, Martins WP. Perinatal outcomes and intrauterine complications following fetal intervention for congenital heart disease: systematic review and meta-analysis of observational studies. Ultrasound Obstet Gynecol. 2016.

  62. Moon-Grady AJ, Morris SA, Belfort M, Chmait R, Dangel J, Devlieger R, et al. International fetal cardiac intervention registry: a worldwide collaborative description and preliminary outcomes. J Am Coll Cardiol. 2015;66:388–99.

    Article  PubMed  Google Scholar 

  63. Lafranchi T, Lincoln P. Prenatal counseling and care for single-ventricle heart disease: one center’s model for care. Crit Care Nurse. 2015;35:53–61.

    Article  PubMed  Google Scholar 

  64. Hilton-Kamm D, Sklansky M, Chang RK. How not to tell parents about their child’s new diagnosis of congenital heart disease: an internet survey of 841 parents. Pediatr Cardiol. 2014;35:239–52.

    Article  PubMed  Google Scholar 

  65. Warnes CA, Liberthson R, Danielson GK, Dore A, Harris L, Hoffman JI, et al. Task force 1: the changing profile of congenital heart disease in adult life. J Am Coll Cardiol. 2001;37:1170–5.

    Article  CAS  PubMed  Google Scholar 

  66. d’Udekem Y, Iyengar AJ, Galati JC, Forsdick V, Weintraub RG, Wheaton GR, et al. Redefining expectations of long-term survival after the Fontan procedure: twenty-five years of follow-up from the entire population of Australia and New Zealand. Circulation. 2014;130:S32–8.

    Article  PubMed  Google Scholar 

  67. Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012;126:1143–72.

    Article  PubMed  Google Scholar 

  68. Jansen FA, Everwijn SM, Scheepjens R, Stijnen T, Peeters-Scholte CM, van Lith JM, et al. Fetal brain imaging in isolated congenital heart defects—a systematic review and meta-analysis. Prenat Diagn. 2016;36:601–13.

    Article  PubMed  Google Scholar 

  69. Khalil A, Bennet S, Thilaganathan B, Paladini D, Griffiths P, Carvalho JS. Prevalence of prenatal brain abnormalities in fetuses with congenital heart disease: systematic review. Ultrasound Obstet Gynecol. 2016.

  70. Miller SP, McQuillen PS, Hamrick S, Xu D, Glidden DV, Charlton N, et al. Abnormal brain development in newborns with congenital heart disease. N Engl J Med. 2007;357:1928–38.

    Article  CAS  PubMed  Google Scholar 

  71. Owen M, Shevell M, Majnemer A, Limperopoulos C. Abnormal brain structure and function in newborns with complex congenital heart defects before open heart surgery: a review of the evidence. J Child Neurol. 2011;26:743–55.

    Article  PubMed  Google Scholar 

  72. Paladini D, Alfirevic Z, Carvalho JS, Khalil A, Malinger G, Martinez JM, et al. Prenatal counseling for neurodevelopmental delay in congenital heart disease: results of a worldwide survey of experts’ attitudes advise caution. Ultrasound Obstet Gynecol. 2016;47:667–71.

    Article  CAS  PubMed  Google Scholar 

  73. Rychik J, Donaghue DD, Levy S, Fajardo C, Combs J, Zhang X, et al. Maternal psychological stress after prenatal diagnosis of congenital heart disease. J Pediatr. 2013;162:302–7. e301.

    Article  PubMed  Google Scholar 

  74. Bevilacqua F, Palatta S, Mirante N, Cuttini M, Seganti G, Dotta A, et al. Birth of a child with congenital heart disease: emotional reactions of mothers and fathers according to time of diagnosis. J Matern Fetal Neona. 2013;26:1249–53.

    Article  Google Scholar 

  75. Brosig CL, Whitstone BN, Frommelt MA, Frisbee SJ, Leuthner SR. Psychological distress in parents of children with severe congenital heart disease: the impact of prenatal versus postnatal diagnosis. J Perinatol. 2007;27:687–92.

    Article  CAS  PubMed  Google Scholar 

  76. Field T. Prenatal depression effects on early development: a review. Infant Behav Dev. 2011;34:1–14.

    Article  PubMed  Google Scholar 

  77. Ikemba CM, Kozinetz CA, Feltes TF, Fraser Jr CD, McKenzie ED, Shah N, et al. Internet use in families with children requiring cardiac surgery for congenital heart disease. Pediatrics. 2002;109:419–22.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Pediatric Cardiology, Washington University School of Medicine, One Children’s Place, NWT Box 8116, St. Louis, MO, 63110, USA

    Caroline K. Lee MD

Authors
  1. Caroline K. Lee MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Caroline K. Lee MD.

Ethics declarations

Conflict of Interest

Caroline K. Lee declares no potential conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Additional information

This article is part of the Topical Collection on Pediatric Congenital Heart Disease

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lee, C.K. Prenatal Counseling of Fetal Congenital Heart Disease. Curr Treat Options Cardio Med 19, 5 (2017). https://doi.org/10.1007/s11936-017-0502-1

Download citation

  • Published:

  • DOI: https://doi.org/10.1007/s11936-017-0502-1

Keywords

Search

Navigation