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Maternal serum alpha‐fetoprotein levels peak at 19–21 weeks' gestation and subsequently decline in an NPHS1 sequence variant heterozygote; implications for prenatal diagnosis of congenital nephrosis of the Finnish type
Author(s) -
Brady Teresa B.,
Mitra Avick G.,
Hooks Jessica
Publication year - 2014
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.4375
Subject(s) - gestational age , prenatal diagnosis , gestation , fetus , heterozygote advantage , medicine , pregnancy , obstetrics , biology , endocrinology , genotype , genetics , gene
What's already known about this topic? MS‐AFP values peak and then decline in NPHS1 carrier pregnancies, whereas values remain elevated in affected pregnancies. Limited information is currently available on the gestational age range of this peak and decline of MS‐AFP values for carrier pregnancies.What does this study add? Provides further information regarding the timing of the peak and decline of MS‐AFP values in NPHS1 carrier pregnancies. Provides clinical information about NPHS1 gene sequence variant (868 G to T transversion).