title: First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects.
abstract: Alpha-fetoprotein (AFP), unconjugated oestriol (UE3), intact human chorionic gonadotrophin (intHCG), and the free beta subunit of chorionic gonadotrophin (F beta HCG) were investigated in a series of 21 chromosomally abnormal and 14 open neural tube defect pregnancies ascertained from a series of 14,000 prospectively collected maternal serum samples at 6-14 weeks' gestation. In 16 cases of Down's syndrome, significant reductions were found for AFP (0.65 multiples of the normal median) and UE3 (0.67 MOM). IntHCG levels were unaltered (0.97 MOM) but a significant increase was found for F beta HCG (1.96 MOM). Significant correlations were found for AFP and UE3 in the controls and for intHCG and F beta HCG in both the control and the Down's syndrome pregnancies. In a group of five trisomy 18 pregnancies, median MOMs were for AFP 0.71, for UE3 0.34, for intHCG 0.27, and for F beta HCG 0.15. None of 13 pregnancies with open neural tube defects at 8-13 weeks gestation had elevated maternal serum AFP levels, whereas matched second-trimester samples from the same pregnancies at 16-18 weeks gestation all had significantly elevated AFP levels. Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free beta human chorionic gonadotrophin in combination with AFP and maternal age. However, a separate screening protocol using AFP at 15-18 weeks gestation would still be required for effective detection of neural tube defects.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, U.K.
authors.forename: D A
authors.initials: DA
authors.lastname: Aitken
authors.forename: G
authors.initials: G
authors.lastname: McCaw
authors.forename: J A
authors.initials: JA
authors.lastname: Crossley
authors.forename: E
authors.initials: E
authors.lastname: Berry
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
authors.forename: K
authors.initials: K
authors.lastname: Spencer
authors.forename: J N
authors.initials: JN
authors.lastname: Macri
mesh_terms: D015415:Biomarkers / Q000097:blood; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005314:Embryonic and Fetal Development / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009436:Neural Tube Defects / Q000175:diagnosis*; D011247:Pregnancy; D011257:Pregnancy Proteins / Q000097:blood*; D011261:Pregnancy Trimester, First; D011446:Prospective Studies
chemical_list: D015415:Biomarkers; D011257:Pregnancy Proteins