Evaluating a molecular screening protocol for fetal Down syndrome

• Main Authors: Ching Ping Yeh, 葉菁萍
• Other Authors: Da Chang Chu
• Format: Others
• Language: zh-TW
• Published: 2006
• Online Access: http://ndltd.ncl.edu.tw/handle/29099191303779259300

碩士 === 長庚大學 === 醫學生物技術研究所 === 94 === Trisomy 21 is the most frequent chromosome aneuploidy with the incidence of approximately 1 in 900 newborns. The rapid prenatal diagnosis of chromosome aneuploidies have been successful through fluorescence PCR (F-PCR) assay combined with short tandem repeat (STR) markers. The purpose of this study was to collect a large number of amniotic fluid samples and investigate the clinical feasibility for rapid prenatal detection of Down syndrome using the fluorescence PCR to identify the number of chromosome 21 in uncultured amniocytes. DNA was extracted from uncultured amniocytes and amplified using F-PCR with three STR markers located on chromosome 21: IFNAR, D21S11, D21S1411. The results were compared to the karyotyping. Data showed that in 602 samples, there were two samples detected as Down syndrome. Others 588 samples showed normal diploid, and there were 12 samples with no results. So the accuracy of the protocol is 98%.In conclusion, rapid prenatal diagnosis of Down syndrome using F-PCR is a reliable technique that could aid prenatal detecting of Down syndrome-affected pregnancies.