Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.
Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.
复制标题
DOI：
10.1038/gim.2014.197
复制
发表时间：
2015-10
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
通过对母体血浆中的无细胞 DNA (cfDNA) 进行新一代测序的无创产前筛查 (NIPS) 用于筛查高风险妊娠中常见的非整倍体，例如 21 三体性。 NIPS 可以识别胎儿基因组微缺失，但敏感性和特异性尚未得到系统评估。商业公司已开始提供扩展的面板，包括筛查常见的微缺失综合征，例如 22q11.2 缺失（迪乔治综合征），但无需报告基因组坐标或缺失是母体还是胎儿。在这里，我们描述了一位表型正常的母亲和胎儿，通过母体血浆细胞游离 DNA 检测，其非典型 22q 缺失呈阳性。我们对一名表型正常的单胎妊娠女性在妊娠 11 周时保存的母体血浆进行了 cfDNA 测序，据报道，该女性早期在商业实验室的筛查显示 22q11.2 微缺失呈阳性。产后进行 FISH 和染色体微阵列诊断基因检测。 NIPS 检测到 22q 微缺失，经诊断检查，该微缺失不包括 DiGeorge 关键区域。微缺失 NIPS 结果呈阳性后，应使用染色体微阵列进行产前或产后诊断测试以及适当的亲本研究，以确定精确的基因组坐标和遗传。
Noninvasive prenatal screening (NIPS) by next-generation sequencing of cell free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21, in high risk pregnancies. NIPS can identify fetal genomic microdeletions, however sensitivity and specificity have not been systematically evaluated. Commercial companies have begun to offer expanded panels including screening for common microdeletion syndromes such as 22q11.2 deletion (DiGeorge syndrome) without reporting the genomic coordinates or whether the deletion is maternal or fetal. Here we describe a phenotypically normal mother and fetus that tested positive for atypical 22q deletion via maternal plasma cell free DNA testing. We performed cfDNA sequencing on saved maternal plasma obtained at 11 weeks of gestation from a phenotypically normal woman with a singleton pregnancy whose earlier screening at a commercial laboratory was reported to be positive for a 22q11.2 microdeletion. FISH and chromosomal microarray diagnostic genetic tests were done postnatally. NIPS detected a 22q microdeletion that upon diagnostic work up, did not include the DiGeorge critical region. Diagnostic prenatal or postnatal testing with chromosomal microarray and appropriate parental studies to determine precise genomic coordinates and inheritance should follow a positive microdeletion NIPS result.
登录
查看更多内容
影响因子：
9.8
作者：
Norton, Mary E.;Brar, Herb;Song, Ken
通讯作者：
Song, Ken
影响因子：
3.7
作者：
McCullough RM;Almasri EA;Guan X;Geis JA;Hicks SC;Mazloom AR;Deciu C;Oeth P;Bombard AT;Paxton B;Dharajiya N;Saldivar JS
通讯作者：
Saldivar JS
影响因子：
3
作者：
Lau, Tze Kin;Jiang, Fu Man;Choy, Kwong Wai
通讯作者：
Choy, Kwong Wai
影响因子：
8.8
作者：
Palomaki, Glenn E.;Kloza, Edward M.;Canick, Jacob A.
通讯作者：
Canick, Jacob A.
影响因子：
9.8
作者：
Srinivasan, Anupama;Bianchi, Diana W.;Rava, Richard P.
通讯作者：
Rava, Richard P.