Second trimester ultrasound screening for chromosomal abnormalities

Citations Over TimeTop 10% of 2002 papers

Abstract

Abstract The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically‐identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low‐risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus. Copyright © 2002 John Wiley & Sons, Ltd.

Related Papers

• → Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register(2005)103 cited
• → Differential Effect of Advanced Maternal Age on Prenatal Diagnosis of Trisomies 13, 18 and 21(1999)13 cited
• → Estimates for the sensitivity and false‐positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross‐identification and double‐positive results(2001)3 cited
• → Human chorionic gonadotrophin and trisomy 18(1991)7 cited
• Analysis of prenatal sonography in screening Down syndrome and trisomy 18(2004)