Prenatal Diagnosis and Genetic Counseling

  • R. Douglas Wilson


Birth defects are increasingly being identified prenatally, allowing the pediatric surgeon to become involved before presentation in the neonatal intensive care unit. Congenital malformations are the most frequent cause of mortality during the first year of life, accounting for approximately 20% of all infant deaths in the United States. The overall risk of birth defects for any couple undertaking a pregnancy is estimated at 3–5%, with 2–3% of those infants having major structural abnormalities identified prenatally and requiring evaluation and treatment as a newborn (Table 2.1). More functional birth defects and developmental changes, not recognizable as structural anomalies, can make up the additional 2–3% by the end of the first year of life. Minor birth defects are estimated at 8–10% but generally are not associated with significant morbidity.


Chorionic Villus Angelman Syndrome Uniparental Disomy Androgen Insensitivity Syndrome Chromosomal Mosaicism 
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Suggested Reading

  1. Benacerraf BR, editor. Ultrasound of fetal syndromes. 2nd ed. Philadelphia: Elsevier; 2008.Google Scholar
  2. Bianchi DW, Crombleholme TM, D’Alton ME, editors. Fetology: diagnosis and management of the fetal patient. New York: McGraw-Hill; 2000.Google Scholar
  3. Bui TH. Syndrome: an approach to fetal dysmorphology. In: Evans MI, Johnson MP, Yaron Y, Drugan A, editors. Prenatal diagnosis. New York: McGraw-Hill; 2006. p. 57–62.Google Scholar
  4. Callen PW, editor. Ultrasonography in obstetrics and gynecology. 5th ed. Philadelphia: Elsevier; 2008.Google Scholar
  5. Connor JM, Ferguson-Smith MA. Essential medical genetics. 4th ed. Oxford: Blackwell Scientific Publications; 1993.Google Scholar
  6. Firth HV, Hurst JA, Hall JG, editors. Oxford desk reference clinical genetics. New York: Oxford University Press; 2005.Google Scholar
  7. Gaudry P, Grange G, et al. Fetal loss after amniocentesis in a series of 5,780 procedures. Fetal Diagn Ther. 2008;23:217–21.PubMedCrossRefGoogle Scholar
  8. Jones KL, editor. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier; 2006.Google Scholar
  9. Sanders RC, Blackmon LR, Hogge WA, Spevak P, Wulfsberg EA, editors. Structural fetal abnormalities: the total picture. 2nd ed. St. Louis: Mosby; 2002.Google Scholar
  10. Simpson JL, Elias S, editors. Genetics in obstetrics and gynecology. 3rd ed. Philadelphia: Saunders; 2003.Google Scholar
  11. Wilson RD. Management of fetal tumors. Best Pract Res Clin Obstet Gynaecol. 2008;22(1):159–73.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyUniversity of Calgary and Calgary Health Region, Foothills Medical CenterCalgaryCanada

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