title: Prenatal diagnosis of fragile X syndrome: management of the male fetus with a premutation.
abstract: Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital, U.K.
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: C M
authors.initials: CM
authors.lastname: Gosden
authors.forename: P M
authors.initials: PM
authors.lastname: Ellis
authors.forename: J P
authors.initials: JP
authors.lastname: Neilson
authors.forename: D T
authors.initials: DT
authors.lastname: Bonthron
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA