title: Rapid prenatal diagnosis of Down Syndrome using quantitative fluorescent PCR in uncultured amniocytes.
abstract: Rapid prenatal diagnosis of common chromosome aneuploidies have been successful through quantitative fluorescent PCR (QF-PCR) assays and small tandem repeat (STR) markers. The purpose of our study was to investigate the clinical feasibility for rapid prenatal detection of Down syndrome using the quantitative fluorescent PCR in uncultured amniocytes. DNA was extracted from uncultured amniotic fluid of normal karyotype (n=200) and of Down syndrome (n=21). It was amplified using QF-PCR with four STR markers located on chromosome 21. Among normal samples, the ranges of diallelic peaks for at least one STR marker were 1.0-1.3 for D21S11, 1.0-1.4 for D21S1411 and 1.0-1.5 for D21S1270. Down syndrome samples showed trisomic triallelic patterns or trisomic diallelic patterns. The sensitivity, specificity, and efficiency of the assay for detecting Down syndrome were 95.4%, 100%, and 99.5%, respectively. Rapid prenatal diagnosis of Down syndrome using QF-PCR is a reliable technique that aids clinical management of pregnancy.
authors.affiliation: Laboratory of Medical Genetics, Samsung Cheil Hospital & Women's Healthcare Center, Sungkyunkwan University, School of Medicine, Seoul, Korea. genelab@samsung.co.kr
authors.forename: Moon-Hee
authors.initials: MH
authors.lastname: Lee
authors.forename: Hyun-Mee
authors.initials: HM
authors.lastname: Ryu
authors.forename: Do-Jin
authors.initials: DJ
authors.lastname: Kim
authors.forename: Bom-Yi
authors.initials: BY
authors.lastname: Lee
authors.forename: Eun-Hee
authors.initials: EH
authors.lastname: Cho
authors.forename: Jae-Hyug
authors.initials: JH
authors.lastname: Yang
authors.forename: Moon-Young
authors.initials: MY
authors.lastname: Kim
authors.forename: Jung-Yeol
authors.initials: JY
authors.lastname: Han
authors.forename: So-Yeon
authors.initials: SY
authors.lastname: Park
mesh_terms: D000483:Alleles; D000653:Amniotic Fluid / Q000166:cytology*; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000378:metabolism; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007723:Korea; D008856:Microscopy, Fluorescence / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D020080:Tandem Repeat Sequences; D013997:Time Factors
chemical_list: D004247:DNA