Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome

Prenatal Diagnosis
Yali HuHengmi Cui

Abstract

To develop a reliable and specific technique for rapid prenatal diagnosis of Down syndrome. High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compared to conventional cytogenetic karyotype analysis. The DSCR3/GAPDH ratio of uncultured amniocytes in trisomy 21 syndrome fetuses to normal fetuses was 1.69 +/- 0.17 to 1.06 +/- 0.14, respectively (p < 0.001); and the DSCR3/GAPDH ratio of lymphocytes in trisomy 21 syndrome children to normal people was 1.67 +/- 0.13 to 0.99 +/- 0.10, respectively (p < 0.001). Real-time PCR technique effectively differentiates the normal fetuses from the trisomy 21 syndrome fetuses; therefore, compared to the results of the conventional cytogenetic karyotype analysis, the DSCR3/GAPDH ratios of trisomy 21 syndrome fetuses are significantly higher than those of normal fetuses. Because the DSCR3/GAPDH ratio of trisomy 21 syndrome fetuses is significantly higher than that of normal fetuses, the genomic DNA real-time PCR technique may be a reliable and specific method for the rapid prenatal diagnosis of Down syndrome.

Citations

Sep 30, 2005·Journal of Biomedicine & Biotechnology·Laurent BodinMarie-Anne Loriot
Aug 3, 2006·The Journal of Obstetrics and Gynaecology Research·Tomoko TsujieYuji Murata
May 21, 2013·Journal of Clinical Laboratory Analysis·Yan WangChunyuan Fan
Nov 3, 2005·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·Yali HuHengmi Cui
Apr 19, 2005·Expert Review of Molecular Diagnostics·Manit AryaHitendra R H Patel
Jul 20, 2006·Molecular Biology Reports·Xiaobo SunChenling Xiong
Apr 14, 2005·Prenatal Diagnosis

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