TY - JOUR
T1 - Combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low estriol is highly predictive of anencephaly
AU - Yaron, Yuval
AU - Hamby, Deborah D.
AU - O'Brien, Joseph E.
AU - Critchfield, Gregory
AU - Leon, Jorge
AU - Ayoub, Mazin
AU - Johnson, Mark P.
AU - Evans, Mark I.
PY - 1998/1/23
Y1 - 1998/1/23
N2 - Increased levels of second trimester maternal serum alpha-fetoprotein (MSAFP) have long been established as a marker for neural tube defects (NTDs). In addition, decreased levels of maternal estriol in the third trimester have been reported in pregnancies with anencephalic fetuses. The purpose of this study was to evaluate whether early second trimester unconjugated serum estriol (uE3) is an independent predictor of NTDs. The study included 57,031 patients who underwent maternal serum screening with MSAFP at 14-22 weeks gestation. Of these, 23,415 also had uE3 measurements. There were 63 cases of NTD, an overall incidence of 1.1 per 1,000. Elevated MSAFP (≤2.5 MOM) was detected in 1,346 patients, 48 of which had NTDs. Decreased uE3 (≤0.5) was detected in 1,437 patients, 17 of which had NTDs. The incidence of NTDs was significantly higher in patients with low uE3, compared to patients with normal/high uE3 (1.15% vs. 0.09%, P < 001). Finally, 51 patients had both increased MSAFP and decreased uE3; 16 of these had NTDs, 14 of which were anencephalics. In conclusion, both elevated MSAFP and low maternal serum estriol are predictive of NTD but have a low sensitivity. The combination of abnormally elevated MSAFP and low estriol is highly predictive of NTD in particular anencephaly.
AB - Increased levels of second trimester maternal serum alpha-fetoprotein (MSAFP) have long been established as a marker for neural tube defects (NTDs). In addition, decreased levels of maternal estriol in the third trimester have been reported in pregnancies with anencephalic fetuses. The purpose of this study was to evaluate whether early second trimester unconjugated serum estriol (uE3) is an independent predictor of NTDs. The study included 57,031 patients who underwent maternal serum screening with MSAFP at 14-22 weeks gestation. Of these, 23,415 also had uE3 measurements. There were 63 cases of NTD, an overall incidence of 1.1 per 1,000. Elevated MSAFP (≤2.5 MOM) was detected in 1,346 patients, 48 of which had NTDs. Decreased uE3 (≤0.5) was detected in 1,437 patients, 17 of which had NTDs. The incidence of NTDs was significantly higher in patients with low uE3, compared to patients with normal/high uE3 (1.15% vs. 0.09%, P < 001). Finally, 51 patients had both increased MSAFP and decreased uE3; 16 of these had NTDs, 14 of which were anencephalics. In conclusion, both elevated MSAFP and low maternal serum estriol are predictive of NTD but have a low sensitivity. The combination of abnormally elevated MSAFP and low estriol is highly predictive of NTD in particular anencephaly.
KW - Anencephaly
KW - Estriol
KW - Neural tube defects
KW - Prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=0032559319&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19980123)75:3<297::AID-AJMG14>3.0.CO;2-K
DO - 10.1002/(SICI)1096-8628(19980123)75:3<297::AID-AJMG14>3.0.CO;2-K
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C2 - 9475601
AN - SCOPUS:0032559319
SN - 0148-7299
VL - 75
SP - 297
EP - 299
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -