title: hCG in screening for aneuploidy: a possible role for its glycoforms?
abstract: Fetal trisomy 21 is associated with elevated maternal serum hCG and its free beta-subunit (hCG-beta) in vivo, and abnormal placental hCG production and glycosylation in vitro. Other maternal serum markers may also be disrupted in major aneuploidies (T21, T18, T13). We evaluated our aneuploidy screening practices, focusing on hCG-beta and hCG glycoforms, and retrospectively analyzed 55 aneuploidy cases diagnosed over a 2 year period, determining maternal serum hCG glycoforms profiles using 2D-electrophoresis. Screening efficiency reached 96.7%. T21 was associated with elevated hCG-beta while T18 presented with diminished serum markers. hCG glycoforms tended to be basic in aneuploidy (mainly T13).
authors.affiliation: Maternity, CHU Bordeaux, France; INSERM U 1139, France.
authors.forename: S
authors.initials: S
authors.lastname: Brun
authors.affiliation: INSERM U 1139, France; Hormonology, CHU Cochin AP-HP, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Leguy
authors.affiliation: Biochemistry, CHU Bichat AP-HP, France.
authors.forename: A
authors.initials: A
authors.lastname: Bruneel
authors.affiliation: INSERM U 1139, France.
authors.forename: T
authors.initials: T
authors.lastname: Fournier
authors.affiliation: Maternity, CHU Cochin AP-HP, France.
authors.forename: O
authors.initials: O
authors.lastname: Anselem
authors.affiliation: INSERM U 1139, France; Hormonology, CHU Cochin AP-HP, France; Fondation PremUp, France; Université Paris Descartes, Paris, France. Electronic address: jean.guibourdenche@cch.aphp.fr.
authors.forename: J
authors.initials: J
authors.lastname: Guibourdenche
mesh_terms: D000328:Adult; D006063:Chorionic Gonadotropin / Q000096:biosynthesis / Q000097:blood*; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D025063:Chromosome Disorders / Q000097:blood; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18 / Q000378:metabolism; D004314:Down Syndrome / Q000097:blood; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006031:Glycosylation; D006801:Humans; D008875:Middle Aged; D048208:Nuchal Translucency Measurement; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D006063:Chorionic Gonadotropin; D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A
keywords: 2D-Electrophoresis; Glycosylation; Maternal serum markers; Prenatal screening; hCG