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Hyperglycosylated‐hCG (h‐hCG) and Down syndrome screening in the first and second trimesters of pregnancy
Author(s) -
Palomaki Glenn E.,
Neveux Louis M.,
Haddow James E.,
Wyatt Philip
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1778
Subject(s) - estriol , human chorionic gonadotropin , gestation , medicine , pregnancy , down syndrome , gynecology , gonadotropin , aneuploidy , second trimester , first trimester , obstetrics , hormone , endocrinology , biology , biochemistry , gene , chromosome , genetics , psychiatry
Objective To validate Down syndrome screening protocols that include hyperglycosylated‐hCG (h‐hCG) measurements. Methods Measuring h‐hCG in 21 641 fresh first‐ and second‐trimester maternal serum samples, but not for clinical interpretation. Nuchal translucency (NT) and pregnancy associated plasma protein‐A (PAPP‐A) measurements were available in the first trimester; alpha‐fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG) measurements in the second trimester. Results Of the 23 first‐ and 26 second‐trimester Down syndrome pregnancies identified, 52 and 65% of h‐hCG measurements were above the 95th centile, respectively. At a 3% false positive rate, maternal age, NT, PAPP‐A and h‐hCG detected 78% of cases (95% CI, 56–93%). Other combinations were consistent with previous modeling utilizing stored samples. A literature summary indicates h‐hCG is as strong a marker as free‐β between 10 and 13 weeks' gestation. Conclusions Down syndrome screening performance of h‐hCG using fresh samples meets published expectations based on stored samples. h‐hCG could replace free β measurements, at gestational ages as early as 10 weeks. Copyright © 2007 John Wiley & Sons, Ltd.