title: Screening for fragile X syndrome in women of reproductive age.
abstract: We conducted a prospective intervention study of screening for fragile X syndrome in the general population. Antenatal and preconceptional screening were carried out in 9459 women aged between 19 and 44 with no known family history of fragile X syndrome. 80% were tested antenatally. 134 carriers were detected (a frequency of 1 in 70); 130 had a premutation (PM) and 4 had a full mutation (FM). Prenatal diagnosis was carried out in 108 concurrent or subsequent pregnancies among carriers involving 111 fetuses. Nine had an FM, a rate of 1 in 12; two of the affected embryos received the FM directly from the mother and in seven it was the result of expansion from a PM. In all cases with an FM the pregnancy was terminated. In PM carriers there was evidence of a selection against the mutated chromosome with a segregation ratio of 0.40. Owing to the high rate of premutated chromosomes in our population we conclude that screening for fragile X syndrome among women of reproductive age should be more widely available.
authors.affiliation: The Danek-Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel 52621, USA.
authors.forename: R
authors.initials: R
authors.lastname: Pesso
authors.forename: M
authors.initials: M
authors.lastname: Berkenstadt
authors.forename: H
authors.initials: H
authors.lastname: Cuckle
authors.forename: E
authors.initials: E
authors.lastname: Gak
authors.forename: L
authors.initials: L
authors.lastname: Peleg
authors.forename: M
authors.initials: M
authors.lastname: Frydman
authors.forename: G
authors.initials: G
authors.lastname: Barkai
mesh_terms: D000328:Adult; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D012744:Sex Ratio; D014427:Twins
chemical_list: D004247:DNA