Will α-Fetoprotein Analysis Be Useful in Detecting Fetal Anomalies in the First Trimester?

Abstract

The purpose of this retrospective study was to determine if maternal serum (MSAFP) or amniotic fluid (AF-AFP) α-fetoprotein analysis might he useful in detecting fetal structural defects in the first trimester. During a 5-year period, 20 fetal anomalies were diagnosed at 11–13 weeks by transvaginal ultrasound scanning. A MSAFP sample was obtained in all 20 patients and 17 patients had AF-AFP results obtained by an early amniocentesis. Ten of 20 patients (50%) had elevated MSAFP levels, and 6 or 17 patients had elevated AF-AFP samples (35%). MSAFP was elevated in 4 of 5 cases of anencephaly (80%), in one fetus with the combined malformations of anencephaly and omphalocele, in one fetus with a large encephalocele, in 2 of 3 fetuses (67%) with an omphalocele, and in two cases of cystic hygroma with an abnormal karyotype. AF-AFP was elevated in 3 of 3 cases of anencephaly, in one fetus with the combined defects of anencephaly and omphalocele, in 1 of 3 cases (33%) of omphalocele, and in one fetus with an ence...