【摘 要】
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Background Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow noninvasive prenatal detection of fetal trisomy 21,18and13,could be a potential useful
【机 构】
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Dingli Clinical Medical School of Wenzhou Medical College
【出 处】
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中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
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Background Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow noninvasive prenatal detection of fetal trisomy 21,18and13,could be a potential useful for prenatal screening for chromosome anomalies.In this study,We wished to validate the the concordance with results obtained by karyotyping.Methods we collected 67 plasma samples from women with singleton pregnancy.who underwent definitive diagnosis by full karyotyping,56 chromosome anomalies were de tected,mong which 35 involved a trisomy 21 fetus and 17 involved a trisomy 18.By using the reported standard z-score approach,A trisomy 21、18 fetus was diagnosed when the z score for the proportion of chromosome 21 DNA molecules was>3.Diagnostic sensitivity,specificity were calculated.Results The total number of sequences obtained from each sample was.≈1.0x10^7,The total U0-1-0-0 counts ranged from 2.3x10^6 to 6.7x10^6 per case,2 samples failed pre-specified assay quality control parameters.In total,62 aneuploidies were detect,14 with trisomy 18,34 with trisomy 21,and 3 with monosomy X.There were 5 aneuploidies misclassified,as tfisomy 21 and as trisomy 18 and 1 as polyploidy.CONCLUSION Tish study demonstrates that plasma DNA sequencing approach could identify 97% and 85.0% of trisomy 21 and 18 concordance with karyotyping respectively.CONCLUSION Tish study demonstrates that plasma DNA sequencing approach could identify 97% and 85.0% of trisomy 21 and 18 concordance with karyotyping respectively.
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