Novel Non-invasive Prenatal Diagnosis as Related to Congenital Adrenal Hyperplasia

  • Joe Leigh SimpsonEmail author
  • Farideh Bischoff
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


Prenatal treatment of female fetuses having congenital adrenal hyperplasia (CAH) requires diagnosis of gender for genotype prior to genital differentiation. This approach currently involves chorionic villus sampling (CVS). In experienced hands CVS carries minimal risk of pregnancy loss, comparable to that associated with amniocentesis. Although offering considerable advantage by first trimester diagnosis, CVS is typically performed no earlier than 9-week gestation (7-week embryonic age) and usually not until 10–12 weeks. The procedure can be performed as early as 6–7 weeks, but it is technically difficult at that gestational age and associated with limb reduction defects. A preferable approach is definitive non-invasive diagnosis of fetal disorders. This could be achievable by analysis of either intact fetal cells or cell-free fetal DNA in maternal blood.


Congenital Adrenal Hyperplasia Pregnancy Loss Maternal Blood Marfan Syndrome Fetal Cell 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Herbert Wertheim College of Medicine, Florida International UniversityMiamiUSA
  2. 2.Biocept, Inc.San DiegoUSA

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