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Screening for trisomy 21 (Down Syndrome)
Title: Efficacy of screening for Fetal Down Syndrome in the United States from 1974-1997
Author: J. Egan, et al.
Address: Farmington, Connecticut
Source: Obstetrics & Gynecology 96:979-985 (December) 2000
Summary: Researchers conducted this study to estimate the 16-week prevalence of Down syndrome in the US from 1974 to 1997 and to determine the effectiveness of maternal age cutoffs and triple screens for detecting it antenatally. The estimated second-trimester prevalence of Down syndrome in 1974 was one in 740. However, by 1997 that number had increased to one in 504. In 1997, 47.3% of all 16-week Down syndrome fetuses were carried by women 35-49 years old. Live births to women 35-49 increased more rapidly from 4.7% in 1974 to 12.6% in 1997. The likelihood ratio for maternal age to identify an affected pregnancy decreased during the study period and was substantially lower than that using the serum testing. Researchers concluded that a maternal age cutoff of 35 years in the 1990s resulted in high false-positive rates and was less effective based on likelihood ration and positive predictive value. Serum testing of all pregnant women would reduce the number of amniocenteses and decrease procedure-related losses. Thus, these researchers recommend that the practice of offering routine amniocentesis to women 35-years-old or older without first performing maternal serum screening is a routine that should be discontinued.
Comment: Blood tests and high resolution ultrasound can markedly reduce the need for amniocentesis.