Prenatal Diagnosis · 1991 · 43 citations · 12 references
MedicineGeneticsObstetricsCytogeneticsMaternal-fetal MedicinePrenatal DiagnosisPregnancyPrenatal CytogeneticsPrenatal DevelopmentPrenatal Genetic DiagnosisPrenatal Risk AssessmentAutosomal AneuploidyAutosomal PolyploidyAutosomal TrisomyFetal Chromosomal AbnormalitiesFirst-trimester Aneuploidy MarkersGestational Age MeasurementMaternal Serum Alpha-fetoprotein ScreeningPrenatal Diagnosis Of Aneuploidy
First-trimester maternal serum alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG) levels were measured in samples from 29 women with cytogenetically abnormal pregnancies and 145 women with cytogenetically normal pregnancies matched for gestational age, race, and sample storage time. All patients had a risk of fetal aneuploidy greater than or equal to that of a mother 35 years of age. AFP was significantly lower in samples from pregnancies affected with trisomy 21 (0.67 MoM; p less than 0.05), while HCG values were no different from those of matched controls. Trisomies 13 and 18 could not be distinguished from matched controls by AFP. However, levels of HCG were significantly lower in such pregnancy samples, with median values of 0.65 MoM in trisomy 13 and 0.32 MoM in trisomy 18 (p less than 0.05). Variations in AFP and HCG levels suggest that expressed differences between autosomal aneuploidies include differences in fetal and placental protein production in the first trimester.
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Maternal serum screening for Down's syndrome in early pregnancy.
N J Wald, Howard Cuckle, J. W. Densem et al. · BMJ · 1988 · 974 citations · Full text
E B Hook, Barbara Topol, Philip K. Cross · PubMed · 1989 · 136 citations
Life Sciences, Genetics, Obstetrics +17