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Prenatal Diagnosis and Genetic Counseling

  • R. Douglas Wilson
Chapter

Abstract

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.

Keywords

Chorionic Villus Angelman Syndrome Uniparental Disomy Androgen Insensitivity Syndrome Chromosomal Mosaicism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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