Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.
Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.
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无细胞核酸作为妇科疾病、胎儿非整倍性和母体染色体嵌合体的非侵入性生物标志物。
DOI：
10.1093/humupd/dmv015
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发表时间：
2015
影响因子：
13.3
通讯作者：
Peters,DavidG
中科院分区：
文献类型：
--
作者：
Chu,Tianjiao;Yeniterzi,Suveyda;Yatsenko,SvetlanaA;Dunkel,Mary;Rajkovic,Aleksandar;Hogge,WAllen;Peters,DavidG
先生，我们很喜欢特拉弗等人（2014）发表的题为“无细胞核酸作为妇科癌症、卵巢癌、子宫内膜和产科疾病以及胎儿非整倍体的非侵入性生物标志物”的文章。目前人们普遍认为，母体血浆DNA大规模平行测序为胎儿非整倍体的无创检测提供了高灵敏度和特异性（Wang etal ., 2014, 2015）。然而，最近的研究引起了人们对这种无创产前检测（NIPT）检测的高假阳性率的担忧，对21三体的假阳性率高达7% （Wang et al., 2015）。一个重要的考虑因素是母体基因组的影响可能导致假阳性结果，包括妇科疾病（Lau et al., 2013; Traver et al., 2014）。还有另一个需要考虑的重要因素；母体染色体嵌合体的存在。我们分析了一名28岁的初产妇，她在妊娠10周时因胎儿超声异常显示囊性水肿而根据irb批准的方案入组我们的研究。NIPT使用血浆DNA测序，结合“微创核型”（MINK）分析算法（Chuet al., 2009）进行，并返回与21号染色体拷贝数增加一致的显著p值，但通过绒毛膜绒毛取样（CVS）确定胎儿核型正常，随后进行经典染色体和FISH分析。NIPT最初被解释为假阳性结果。然而，我们怀疑可能有生物学上的解释，并进行了高分辨率的拷贝数变异分析
Sir, We enjoyed reading the article entitled ‘Cell-free nucleic acids as noninvasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy’by Traver et al.(2014). It is now widely accepted that massively parallel sequencing of maternal plasma DNA provides high sensitivity and specificity for non-invasive detection of fetal aneuploidy (Wang et al., 2014, 2015). However, recent studies have raised concerns about high false-positive rates of such noninvasive prenatal testing (NIPT) assays reaching up to 7% for trisomy 21 (Wang et al., 2015). One important consideration is the impact of the maternal genome as a possible cause of false-positive results, including gynecological conditions (Lau et al., 2013; Traver et al., 2014). There is also another important factor to consider; the presence of constitutional maternal chromosomal mosaicism.We analyzed a 28-year-old primigravida who was enrolled into our research study under an IRB-approved protocol due to abnormal fetal ultrasound showing cystic hydroma at 10 weeks of gestation. NIPT using plasma DNA sequencing, coupled with the ‘Minimally Invasive Karyotyping’(MINK) analysis algorithm (Chuet al., 2009) was performed and returned a significantP-value consistent with a gain in copy number of chromosome 21, yet the fetal karyotype was normal as determined by chorionic villus sampling (CVS) followed by classical chromosome and FISH analyses. NIPT was initially interpreted as a false-positive finding. However, we suspected there might be a biological explanation and performed high-resolution copy number variation analyses of maternal
影响因子：
9.3
作者：
Wang, Yanlin;Chen, Yan;Cheng, Weiwei
通讯作者：
Cheng, Weiwei
影响因子：
13.3
作者：
Sabine Traver;S. Assou;S. Assou;E. Scalici;E. Scalici;D. Haouzi;T. Al-Edani;T. Al-Edani;S. Belloc;S. Hamamah;S. Hamamah
通讯作者：
Sabine Traver;S. Assou;S. Assou;E. Scalici;E. Scalici;D. Haouzi;T. Al-Edani;T. Al-Edani;S. Belloc;S. Hamamah;S. Hamamah