title: FlashFISH: "same day" prenatal diagnosis of common chromosomal aneuploidies.
abstract: Fluorescence in situ hybridization (FISH) and quantitative fluorescence (QF)-PCR are rapid molecular methods that test for common chromosomal aneuploidies in prenatal diagnosis. While cytogenetic analysis requires approximately 7-14 days before fetal karyotypes are available, these molecular methods release results of sex chromosome aneuploidies, Down syndrome, Edward's syndrome, and Patau's syndrome within 24-48 h of fetal sampling, alleviating parental anxiety. However, specific diagnosis or exclusion of aneuploidy should be available within the same day of amniocentesis. We developed "FlashFISH," a low cost FISH method that allows accurate results to be reported within 2 h of fetal sampling. Here, we report our experience of using FlashFISH in prenatal diagnosis, and we illustrate in detail the protocols used for the purpose in our laboratory.
authors.affiliation: Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
authors.forename: Sherry S Y
authors.initials: SS
authors.lastname: Ho
authors.forename: Mahesh A
authors.initials: MA
authors.lastname: Choolani
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D000782:Aneuploidy; D002824:Chorionic Villi / Q000473:pathology; D002875:Chromosomes / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013997:Time Factors