Rapid prenatal diagnosis of Down Syndrome using quantitative fluorescent PCR in uncultured amniocytes.
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.
Lee
Moon-Hee
MH
Laboratory of Medical Genetics, Samsung Cheil Hospital & Women's Healthcare Center, Sungkyunkwan University, School of Medicine, Seoul, Korea. genelab@samsung.co.kr
Ryu
Hyun-Mee
HM
Kim
Do-Jin
DJ
Lee
Bom-Yi
BY
Cho
Eun-Hee
EH
Yang
Jae-Hyug
JH
Kim
Moon-Young
MY
Han
Jung-Yeol
JY
Park
So-Yeon
SY
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
D004247:DNA