title: Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
abstract: Charcot-Marie-Tooth Disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1:2500 persons affected. Previously, we reported the use of fluorescence in situ hybridization (FISH) to detect the common submicroscopic duplication of 17p12 found in more than 98 per cent of individuals with CMT1A. We found that FISH is a reliable means for the diagnosis of the duplication of 17p12 in peripheral blood and reported the validation of the FISH assay for amniotic fluid specimens. Herein, we report the validation of the FISH assay for use on chorionic villus samples (CVS) to prenatally diagnose CMT1A duplications and the testing of 17 prenatal specimens. Seven fetuses were found to carry the duplication and are predicted to be affected. FISH is a rapid assay in prenatal specimens, with a 9.3 day average turn-around time. Limited follow-up on pregnancies indicates that the duplication found in CMT1A is reliably diagnosed in the fetus, using FISH on either amniotic fluid specimens or CVS.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: C D
authors.initials: CD
authors.lastname: Kashork
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000196:embryology; D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000592:standards*; D007399:Interphase; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis