Prenatal genetic screening for Down syndrome and open neural tube defects using maternal serum markers in Thai pregnant women.

Abstract

Maternal serum screening has gained widespread acceptance as a major prenatal screening tool for chromosomal abnormalities in the US and Europe since Merkatz et al described an association between low maternal serum alpha fetoprotein (AFP) levels and increased risk for trisomy 21 in 1984. In 1988, Wald et al proposed a screening program based on maternal age in combination with three biochemical markers--AFP, hCG and unconjugated estriol. This study from January 1996--September 2002 included 1,793 pregnant women (between 14-22 weeks gestation) which were divided into 2 groups--1,083 women > 35 years (60.40%) and 710 women < 35 years (39.60%). A second trimester risk for trisomy 21 > 1 : 270 was considered a positive screen and genetic counseling to discuss risks and benefits of amniocentesis was offered. This study had 1,376 cases (76.7%) with negative screening (not increased risk for DS and NTD), 21 (1.2%) with negative screening (not increased risk for DS only) ; 292 (16.3%) with increased risk for DS; 5 cases (0.3%) with increased risk for DS and elevated AFP; 19 cases (1.1%) with elevated AFP; 33 cases (1.8%) with previous DS only; and 9 cases (0.5%) with previous NTD only. Two percent (2.1%) of the results could not be interpreted either because the test was done too early, too late or were grand multiple pregnancies. This study demonstrated that multiple marker screening offers another option for older women who traditionally have all been considered candidates for amniocentesis.