title: Urinary beta-core human chorionic gonadotrophin: a new approach to Down's syndrome screening.
abstract: Human chorionic gonadotrophin (hCG) is the most discriminatory maternal serum marker of Down's syndrome. We have carried out a study to establish whether urinary beta-core-hCG, a major metabolic product of hCG, might be an even better marker. Urine samples were available from seven singleton pregnancies with Down's syndrome, and one each of Edwards' syndrome, triploidy, and twins discordant for Down's syndrome. beta-Core-hCG levels were corrected for creatinine and expressed as multiples of the normal gestation-specific median (MOM) level derived from 67 singleton controls. There was a highly statistically significant elevation in level among the singleton Down's syndrome cases (P < 0.0005; Wilcoxon rank sum test). All had levels exceeding 2 MOM with a median of 6.11 MOM (95 per cent confidence interval 3.7-10.0). The levels were extremely low in Edwards' syndrome (0.08 MOM) and triploidy (0.02 MOM), but the twin pregnancy discordant for Down's syndrome did not have a raised beta-core-hCG level (0.64 MOM). The findings are sufficiently encouraging to investigate the possibility of urinalysis as a routine modality in the prenatal screening for Down's syndrome and other common serious aneuploidies.
authors.affiliation: Department of Clinical Medicine, University of Leeds, U.K.
authors.forename: H S
authors.initials: HS
authors.lastname: Cuckle
authors.forename: R K
authors.initials: RK
authors.lastname: Iles
authors.forename: T
authors.initials: T
authors.lastname: Chard
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D006063:Chorionic Gonadotropin / Q000652:urine*; D018997:Chorionic Gonadotropin, beta Subunit, Human; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D005820:Genetic Testing; D006801:Humans; D016014:Linear Models; D010446:Peptide Fragments / Q000652:urine*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D006063:Chorionic Gonadotropin; D018997:Chorionic Gonadotropin, beta Subunit, Human; D010446:Peptide Fragments