Non-invasive tool for foetal sex determination in early gestational age
Non-invasive tool for foetal sex determination in early gestational age
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DOI：
10.1111/j.1365-2516.2011.02537.x
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发表时间：
2011-11-01
期刊：
影响因子：
3.9
通讯作者：
Peyvandi, F.
中科院分区：
文献类型：
--
作者：
Mortarino, M.;Garagiola, I.;Peyvandi, F.
.孕早期孕妇血液中的游离胎儿DNA是无创性产前诊断的理想胎儿遗传物质来源。本研究的目的是评估在孕早期使用游离胎儿DNA分析作为检测X连锁疾病（如血友病）携带者的母体血浆中特异性Y染色体序列的预试验。对母体血浆进行实时定量PCR分析以检测SRY或DYS 14序列。一组208名孕妇，在不同的妊娠期从4至12周，进行了测试，以确定最佳时期，以获得足够数量的胎儿DNA进行产前诊断。在整个妊娠期间取样的181名孕妇中确定胎儿性别。妊娠结局和胎儿性别通过核型分析、超声检查或出生后确认。孕4 ~ 7周敏感性较低（平均73%），孕7+ 1周后敏感性显著升高（平均94%）。妊娠7+ 1周后的后者敏感性与高特异性（100%）相关，胎儿性别确定的总体准确性为96%。该分析表明，在妊娠第9周后，母体血浆中的胎儿性别测定是可靠的，并且可以与超声检查联合用于筛查，以确定是否需要绒毛膜绒毛取样用于X连锁疾病（如血友病）的产前诊断。
. Free foetal DNA in maternal blood during early pregnancy is an ideal source of foetal genetic material for non-invasive prenatal diagnosis. The aim of this study was to evaluate the use of free foetal DNA analysis at early gestational age as pretest for the detection of specific Y-chromosome sequences in maternal plasma of women who are carriers of X-linked disorders, such as haemophilia. Real-time quantitative PCR analysis of maternal plasma was performed for the detection of the SRY or DYS14 sequence. A group of 208 pregnant women, at different gestational periods from 4 to 12 weeks, were tested to identify the optimal period to obtain an adequate amount of foetal DNA for prenatal diagnosis. Foetal gender was determined in 181 pregnant women sampled throughout pregnancy. Pregnancy outcome and foetal gender were confirmed using karyotyping, ultrasonography or after birth. The sensitivity, which was low between 4th and 7th week (mean 73%), increased significantly after 7+1th weeks of gestation (mean 94%). The latter sensitivity after 7+1th week of gestation is associated to a high specificity (100%), with an overall accuracy of 96% for foetal gender determination. This analysis demonstrates that foetal gender determination in maternal plasma is reliable after the 9th week of gestation and it can be used, in association with ultrasonography, for screening to determine the need for chorionic villus sampling for prenatal diagnosis of X-linked disorders, such as haemophilia.