Molecular Human Reproduction, Vol. 5, No. 10, 893-895,
October 1999
© 1999 European Society of Human Reproduction and Embryology
Debate |
What factors regulate HCG production in Down's syndrome pregnancies?
Screening for Down's syndrome using HCG concentrations a common practice but still and enigma
Department of Biological Chemistry, The Silberman Institute of Life Sciences, The Hebrew University, Jerusalem, Israel and Department of Obstetrics and Gynaecology, Division of Gynaecologic Oncology, University of Toronto, Toronto, Ontario, Canada
Trisomy 21, phenotypically manifested as Down's syndrome (DS), is the most common autosomal trisomy among live-born babies, and a major known genetic cause of mental retardation. Trisomy 21 pregnancies are associated with changes in maternal serum concentrations of human chorionic gonadotrophin (HCG) and its ß subunit. These variables are used, in combination with
-fetoprotein and oestriol, as markers for screening low-risk populations (aged <35 years) (Bogart et al., 1987
; Haddow et al., 1992
, 1994
, 1998
). In the first and second trimesters of DS pregnancies, the maternal serum concentrations of free ßHCG and total HCG respectively, are increased while free
HCG concentration is not altered (Spencer, 1993
; Brizot et al., 1995
). Additional markers are being investigated but these still lack any evidence for a better predictive
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