Fetal Counseling for Congenital Malformations

  • Kokila LakhooEmail author
Living reference work entry

Latest version View entry history



Fetal counseling is best achieved by a multidisciplinary team that can favorably influence the perinatal management of prenatally diagnosed anomalies and provide this information to prospective parents. Prenatal diagnosis has remarkably improved our understanding of surgically correctable congenital malformations. It has allowed us to influence the delivery of the baby, offer prenatal surgical management, and discuss the options of termination of pregnancy for seriously handicapping or lethal conditions. Antenatal diagnosis has also defined an in utero mortality for some lesions such as diaphragmatic hernia and sacrococcygeal teratoma so that true outcomes can be measured. The limitation of in utero diagnosis cannot be ignored. The aim of prenatal counseling is to provide information to prospective parents on fetal outcomes, possible interventions, appropriate setting, time and route of delivery, and expected postnatal outcomes, immediate and long term.


Fetal counseling Congenital surgical malformations 



Reprinted/adapted by permission from Springer-Verlag Berlin Heidelberg: Springer Nature, Springer eBook by Kokila Lakhoo Copyright © 2009, Springer-Verlag Berlin Heidelberg.


  1. Adzick NS. Management of fetal lung lesions. Clin Perinatol. 2009;36(2):363–76.CrossRefGoogle Scholar
  2. Al-Kouatly HB, Chasen ST, Streltzoff J, Chervenak FA. The clinical significance of fetal echogenic bowel. Am J Obstet Gynecol. 2001;185:1035–8.CrossRefGoogle Scholar
  3. Altman RP, Randolph JG, Lilly JR. Sacrococcygeal teratoma: American Academy of Pediatrics surgical section Survey-1973. J Pediatr Surg. 1974;9:389–98.CrossRefGoogle Scholar
  4. Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, et al. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol. 2009;145(1):9–13.CrossRefGoogle Scholar
  5. Brand IR, Kaminopetros P, Cave M, Irving HC, Lilford RJ. Specificity of antenatal ultrasound in the Yorkshire region: a prospective study of 2261 ultrasound detected anomalies. Br J Obstet Gynaecol. 1994;101:392–7.CrossRefGoogle Scholar
  6. Bricker L, Garcia J, Henderson J, Mugford M, Neilson J, Roberts T, Martin MA. Ultrasound screening in pregnancy: a systematic review of the clinical effectiveness, cost-effectiveness and women’s views. Health Technol Assess. 2000;4(16):i–vi.CrossRefGoogle Scholar
  7. Burge DM, Shah K, Spark P, Shenker N, Pierce M, Kurinczuk JJ, Draper ES, Johnson PR, Knight M, British Association of Paediatric Surgeons Congenital Anomalies Surveillance System (BAPS-CASS). Contemporary management and outcomes for infants born with oesophageal atresia. Br J Surg. 2013;100(4): 515–21.CrossRefGoogle Scholar
  8. Cass DL, Olutoye OO, Cassady CI, Zamora IJ, Ivey RT, Ayres NA, Olutoye OA, Lee TC. EXIT-to-resection for fetuses with large lung masses and persistent mediastinal compression near birth. J Pediatr Surg. 2013;48(1): 138–44.CrossRefGoogle Scholar
  9. CEMACH. Stillbirth, neonatal and post-neonatal mortality 2000–2003, England, Wales and Northern Ireland. London: RCOG Press; 2005.Google Scholar
  10. Chevalier RL. Perinatal obstructive nephropathy. Semin Perinatol. 2004;28:124–31.CrossRefGoogle Scholar
  11. Choudhry M, Boyd PA, Chamberlain PF, Lakhoo K. Prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia. Prenat Diagn. 2007;27(7):608–10.CrossRefGoogle Scholar
  12. Choudhry MS, Rahman N, Boyd P, Lakhoo K. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int. 2009;25(8):727–30.CrossRefGoogle Scholar
  13. Collins SL, Impey LW. Prenatal diagnosis: types and techniques. Early Hum Dev. 2012;88(1):3–8.CrossRefGoogle Scholar
  14. Curran PF, Jelin EB, Rand L, Hirose S, Feldstein VA, Goldstein RB, Lee H. Prenatal steroids for microcystic congenital cystic adenomatoid malformations. J Pediatr Surg. 2010;45(1):145–50. 135.CrossRefGoogle Scholar
  15. Davenport MT, Merguerian PA, Koyle M. Antenatally diagnosed hydronephrosis: current postnatal management. Pediatr Surg Int. 2013;29(3):207–14.CrossRefGoogle Scholar
  16. Dekoninck P, Gratacos E, Van Mieghem T, Richter J, Lewi P, Ancel AM, Allegaert K, Nicolaides K, Deprest J. Results of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia and the set up of the randomized controlled TOTAL trial. Early Hum Dev. 2011;87(9):619–24.CrossRefGoogle Scholar
  17. Deprest J, De Coppi P. Antenatal management of isolated congenital diaphragmatic hernia today and tomorrow: ongoing collaborative research and development. J Pediatr Surg. 2012;47(2):282–90.CrossRefGoogle Scholar
  18. Elbourne D, Field D, Mugford M. Extracorporeal membrane oxygenation for severe respiratory failure in newborn infants. Cochrane Database Syst Rev. 2002:CD001340.Google Scholar
  19. Engels MA, Twisk JW, Blankenstein MA, van Vugt JM. Age independent first-trimester screening for down syndrome: improvement in test performance. Prenat Diagn. 2013;33(9):884–8.CrossRefGoogle Scholar
  20. Fallon SC, Ethun CG, Olutoye OO, Brant ML, Lee TC, Welty SE, Ruano R, Cass DL. J Surg Res. 2014;190(1):242–5.CrossRefGoogle Scholar
  21. Friedmacher F, Puri P. Delayed primary anastomosis for management of long-gap esophageal atresia: a meta-analysis of complications and long-term outcome. Pediatr Surg Int. 2012;28(9):899–906.CrossRefGoogle Scholar
  22. Garcia-Flores J, Recio M, Uriel M, Cañamares M, Cruceyra M, Tamarit I, Carrascoso J, Espada M, Sáinz De La Cuesta R. Fetal magnetic resonance imaging and neurosonography in congenital neurological anomalies supplementary diagnostic and postnatal prognostic value. J Matern Fetal Neonatal Med. 2013;26(15):1517–23.CrossRefGoogle Scholar
  23. Haroon J, Chamberlain RS. An evidence-based review of the current treatment of congenital diaphragmatic hernia. Clin Pediatr (Phila). 2013;52(2):115–24.CrossRefGoogle Scholar
  24. Herzenberg LA, Bianchi DW, Schroder J, Cann HM, Iverson GM. Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting. Proc Natl Acad Sci USA. 1979;76:1453–5.CrossRefGoogle Scholar
  25. Huh NG, Hirose S, Goldstein RB. Prenatal intraabdominal bowel dilation is associated with postnatal gastrointestinal complications in fetuses with gastroschisis. Am J Obstet Gynecol. 2010;202:396.e1–6.CrossRefGoogle Scholar
  26. Islam S. Advances in surgery for abdominal wall defects: gastroschisis and omphalocele. Clin Perinatol. 2012;39(2):375–86.CrossRefGoogle Scholar
  27. Joseph VT. The management of renal conditions in the perinatal period. Early Hum Dev. 2006;82:313–24.CrossRefGoogle Scholar
  28. Koivusalo A, Pakarinen MP, Turunen P, Saarikoski H, Lindahl H, Rintala RJ. Health-related quality of life in adult patients with esophageal atresia – a questionnaire study. J Pediatr Surg. 2005;40:307–12.CrossRefGoogle Scholar
  29. Kunisaki SM, Foker JE. Surgical advances in the fetus and neonate: esophagealatresia. Clin Perinatol. 2012;39(2):349–61.CrossRefGoogle Scholar
  30. Lakhoo K. Neonatal surgical problems of the chest. Paediatr Child Health. 2010;20(5):201–6.CrossRefGoogle Scholar
  31. Lakhoo KF, et al. Counselling for surgical conditions. Early Hum Dev. 2012;88(1):9–13.CrossRefGoogle Scholar
  32. Malone FD, Canick JA, Ball RH, et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353: 2001–11.CrossRefGoogle Scholar
  33. Marokakis S, Kasparian NA, Kennedy SE. Prenatal counselling for congenital anomalies: a systematic review. Prenat Diagn. 2016;36(7):662–71.CrossRefGoogle Scholar
  34. Matsell DG, Yu S, Morrison SJ. Antenatal determinants of long-term kidney outcome in boys with posterior urethral valves. Fetal Diagn Ther. 2016;39(3):214–21.CrossRefGoogle Scholar
  35. Matthews TJ, MacDorman MF, Thoma ME. Infant mortality statistics from the 2013period linked birth/infant death data set. Natl Vital Stat Rep. 2015;64(9):1–30.PubMedGoogle Scholar
  36. Mears AL, Sadiq JM, Impey L, Lakhoo K. Antenatal bowel dilatation in gastroschisis: a bad sign? Pediatr Surg Int. 2010;26(6):581–8.CrossRefGoogle Scholar
  37. Moaddab A, Nassr AA, Belfort MA, et al. Ethical issues in fetal therapy. Best Prect Res Clin Obstet Gynaecol. 2017;43:58–67.CrossRefGoogle Scholar
  38. Morgan RD, O’Callaghan JM, Wagener S, Grant HW, Lakhoo K. Surgical correction of trachea-oesophageal fistula and oesophageal atresia in VACTERL association: a retrospective case-control study. Pediatr Surg Int. 2012;28:967–70.CrossRefGoogle Scholar
  39. Morgan RD, Hanna L, Lakhoo K. Management of giant omphalocele: a case series. Eur J Pediatr Surg. 2013;23(3):254–6.CrossRefGoogle Scholar
  40. Pajkrt E, Weisz B, Firth HV, Chitty LS. Fetal cardiac anomalies and genetic syndromes. Prenat Diagn. 2004;24:1104–11.CrossRefGoogle Scholar
  41. Patel Y, Boyd PA, Chamberlain P, Lakhoo K. Follow-up of children with isolated fetal echogenic bowel with particular reference to bowel-related symptoms. Prenat Diagn. 2004;24:35–7.CrossRefGoogle Scholar
  42. Patel P, Farley J, Impey L, Lakhoo K. Evaluation of feto-maternal-surgical clinic for prenatal counselling of surgical anomalies. Pediatr Surg Int. 2008;24:391–4.CrossRefGoogle Scholar
  43. Patel G, Sadiq J, Shenker N, Impey L, Lakhoo K. Neonatal survival of prenatally diagnosed exomphalos. Pediatr Surg Int. 2009;25(5):413–6.CrossRefGoogle Scholar
  44. Pauniaho SL, Heikinheimo O, Vettenranta K, Salonen J, Stefanovic V, Ritvanen A, Rintala R, Heikinheimo M. High prevalence of sacrococcygeal teratoma in Finland – a nationwide population-based study. Acta Paediatr. 2013;102(6):e251–6.CrossRefGoogle Scholar
  45. Pugash D, Brugger PC, Bettelheim D, Prayer D. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis. Eur J Radiol. 2008;68(2):214–26.CrossRefGoogle Scholar
  46. Rogers L, Li J, Liu L, Balluz R, Rychik J, Ge S. Advances in fetal echocardiography: early imaging, three/four dimensional imaging, and role of fetal echocardiography in guiding early postnatal management of congenital heart disease. Echocardiography. 2013;30(4): 428–38.CrossRefGoogle Scholar
  47. Ruano R, Safdar A, Au J, Koh CJ, Gargollo P, et al. Defining and predicting ‘intrauterine fetal renal failure’ in congenital lower urinary tract obstruction. Pediatr Nephrol. 2016;31(4):605–12.CrossRefGoogle Scholar
  48. Ruiz MJ, Thatch KA, Fisher JC, Simpson LL, Cowles RA. Neonatal outcomes associated with intestinal abnormalities diagnosed by fetal ultrasound. J Pediatr Surg. 2009;44(1):71–4.CrossRefGoogle Scholar
  49. Sharma S, Bhanot R, Deka D, et al. Impact of fetal counseling on outcome of antenatal congenital surgical anomalies. Pediatr Surg Int. 2017;33(2):203–12.CrossRefGoogle Scholar
  50. Sherwood W, Boyd P, Lakhoo K. Postnatal outcome of antenatally diagnosed intra-abdominal cysts. Pediatr Surg Int. 2008;24:763–5.CrossRefGoogle Scholar
  51. Steinhart JM, Kuhn JP, Eisenberg B, Vaughan RL, Maggioli AJ, Cozza TF. Ultrasound screening of healthy infants for urinary tract abnormalities. Pediatrics. 1988;82:609–14.PubMedGoogle Scholar
  52. Tailor J, Roy PGG, Hitchcock R, Grant H, Johnson P, Joseph VT, Lakhoo K. Long term functional outcome of sacrococcygeal teratoma in a UK regional centre (1993–2006). Pediatr Hematol Oncol. 2009;31(3): 183–6.CrossRefGoogle Scholar
  53. Taketazu M, Lougheed J, Yoo SJ, et al. Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome. Am J Cardiol. 2006;97(5):720–4.CrossRefGoogle Scholar
  54. Usui N, Kitano Y, Sago H, Kanamori Y, Yoneda A, Nakamura T, Nosaka S, Saito M, Taguchi T. Outcomes of prenatally diagnosed sacrococcygeal teratomas: the results of a Japanese nationwide survey. J Pediatr Surg. 2012;47(3):441–7.CrossRefGoogle Scholar
  55. Walsh DS, Johnson MP. Fetal interventions for obstructive uropathy. Semin Perinatol. 1999;23:484–95.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Paediatric SurgeryChildren’s Hospital Oxford, Oxford University Hospitals, University of OxfordOxfordUK

Personalised recommendations