Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis

Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling in the first trimester and amniocentesis in the second trimester. Screening options in the first trimester include nuchal translucency testing in combination with measurement of pregnancy-associated plasma protein A and human chorionic gonadotropin. Nuchal translucency testing alone is not as effective. Screening options in the second trimester include serum screening using triple or quadruple screening, and ultrasonography. Patients may also choose a combination of first- and second-trimester screening in an integrated, stepwise sequential, or contingent sequential fashion. These options include an analysis of pregnancy-associated plasma protein A, with or without nuchal translucency testing, in combination with quadruple screening. An integrated test with nuchal translucency testing is the most effective method for women who present in the first trimester. If nuchal translucency testing is unavailable, the maternal serum-integrated test is safest and most effective. For women who do riot present until the second trimester, the quadruple screen is recommended. Comprehensive counseling should be available to all pregnant women. Specific screening tests will depend on availability of the procedure and patient preference. (Am Fam Physician. 2009;79(2):117-123, 124. Copyright (C) 2009 American Academy of Family Physicians.)