Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
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DOI：
10.1002/pd.4076
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发表时间：
2013-06-01
影响因子：
3
通讯作者：
Choy, Kwong Wai
中科院分区：
文献类型：
--
作者：
Lau, Tze Kin;Jiang, Fu Man;Choy, Kwong Wai
目的报告非整倍体非侵入性产前检测（NIPT）作为临床服务引入后的继发或额外发现。方法回顾性分析5例继发性脑梗死患者的临床资料。结果例1的NIPT显示染色体18 p处有一个大的重复，并得到了巨噬细胞DNA阵列CGH的支持，最终核型为18 p嵌合四体。在病例2中，母亲起源的18号染色体近端长臂的缺失被怀疑，并通过母体白色细胞DNA的阵列CGH证实。在病例3中，NIPT对21三体和18三体呈阴性。当在常规扫描中检测到胎儿结构异常时，要求对缺失/重复进行深入分析。发现3号染色体近端长臂缺失，并经核型分析证实。在病例4中，NIPT正确预测了局限性胎盘镶嵌现象，伴有涉及X、7和21号染色体的三重三体。在病例5中，NIPT正确检测到45 X的先前未知的母体嵌合体。结论无创性产前检查可检出胎儿、胎盘及母体染色体异常。当NIPT检测到异常时，这对患者咨询具有重要意义。(c)2013年约翰威利父子有限公司
Objective To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service. Methods Five cases with secondary findings were reviewed. Results In Case 1, NIPT revealed a large duplication in chromosome 18p, which was supported by arrayCGH of amniocyte DNA, with final karyotype showing mosaic tetrasomy 18p. In Case 2, a deletion in the proximal long arm of chromosome 18 of maternal origin was suspected and confirmed by arrayCGH of maternal white cell DNA. In Case 3, NIPT was negative for trisomies 21 and 18. In-depth analysis for deletions/duplications was requested when fetal structural anomalies were detected at routine scan. A deletion in the proximal long arm of chromosome 3 was found and confirmed by karyotyping. In Case 4, NIPT correctly predicted confined placental mosaicism with triple trisomy involving chromosomes X, 7 and 21. In Case 5, NIPT correctly detected a previously unknown maternal mosaicism for 45X. Conclusion Non-invasive prenatal testing is able to detect a wide range of fetal, placental and maternal chromosomal abnormalities. This has important implications on patient counseling when an abnormality is detected by NIPT. (c) 2013 John Wiley & Sons, Ltd.