title: First-trimester alpha-fetoprotein screening for Down syndrome.
abstract: Screening for Down syndrome and other chromosomal aneuploidies by biochemical parameters in maternal serum is well established for the second trimester. With screening as late as 16 weeks of gestation, the option of chorionic villus sampling (CVS) unfortunately is lost. In our study population, the maternal serum alpha-fetoprotein (MSAFP) concentration was determined in 2471 women in the first trimester immediately prior to CVS. Although in this sample MSAFP tended to be lower in Down syndrome (DS) pregnancies than in pregnancies with a chromosomally normal fetus, at this early gestational age neither a fixed cut-off level of 0.5 multiples of the normal median (MOM) nor one of 0.6 MOM was suitable for identifying pregnancies at higher risk for DS. This also applied to trisomy 18, although on average MSAFP in trisomy 18 pregnancies was lower than in normal and DS pregnancies.
authors.affiliation: Institut für Humangenetik, Universität Giessen, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Fuhrmann
authors.forename: K
authors.initials: K
authors.lastname: Altland
authors.forename: V
authors.initials: V
authors.lastname: Jovanovic
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: D
authors.initials: D
authors.lastname: Wenger
authors.forename: R
authors.initials: R
authors.lastname: Rauskolb
mesh_terms: D015193:Chorionic Villi Sampling; D002887:Chromosomes, Human, Pair 18; D002888:Chromosomes, Human, Pair 19; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D008403:Mass Screening; D011247:Pregnancy / Q000097:blood*; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D014314:Trisomy; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D000509:alpha-Fetoproteins