Triple marker study in midtrimester of pregnancy and risk of chromosomal abnormality

Abstract

Abstract Objectives : Every year about 18,000 babies are born in India with trisomy 21. With the availability of well established, documented and widely used maternal serum triplemarker screening during midtrimester of pregnancy, every pregnancy can be monitored for the most common aneuploidy like trisomy 21, trisomy 13, and trisomy 18 in addition to open neural tube defects. Methods : MoM values were derived from 1738 normal pregnant women between 14-20 weeks of gestation who later had full term normal delivery. Two thousand one hundred and eleven women were investigated by triple marker screening between 14-20 weeks of gestation. Results : Two hundred twenty four women were considered as screen positive for trisomy 21, of which, 105 were further investigated for karyotyping and eight of these had trisomy 21, one each had mosaic trisomy 21, der (14:15) and del (X) (p11). Twentythree women with low hCG MoM were considered as screen negative for trisomy 21 and trisomy 18 but positive for other chromosomal abnormalities like iso (X) (q10) and der (13:14) one each, and two with polyploidy. Conclusion : The results suggest that triple marker screening is an effective screening program for noninvasive diagnosis of pregnancies with suspected Down syndrome fetus and also detects other chromosomal anomalies