The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.
The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.
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使用 cffDNA 确定女性 DMD 携带者妊娠前三个月的胎儿性别。
DOI：
10.5582/irdr.2012.v1.4.157
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发表时间：
2012
影响因子：
1.3
通讯作者：
S. Liao
中科院分区：
文献类型：
--
作者：
Dong Wu;Q. Hou;Tao Li;Y. Chu;Qian;Bing Kang;S. Liao
绒毛取样(CVS)或羊膜穿刺术用于确定胎儿性别通常是Duchenne肌营养不良(DMD)等X连锁遗传病产前诊断的第一步。然而，考虑到CVS与手术相关的流产率，非侵入性产前诊断(NIPD)技术，如测定母体血浆中的无细胞胎儿DNA(CffDNA)是首选的。我们通过实时定量聚合酶链式反应(PCR)检测DMD携带者的cffDNA，确定了妊娠早期胎儿的性别。16周时通过羊膜穿刺术、染色体核型分析和多重连接依赖探针扩增(MLPA)确认胎儿性别。这种手术可以避免不必要的脑血管痉挛或对女性胎儿进行羊膜穿刺术。
Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.