临床上利用全基因组测序对常见胎儿非整倍性进行非侵入性产前检查的次要发现

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
作者:Lau, T.K. , Jiang, F.M. , Stevenson, R.J. , Lo, T.
机构: 香港Paramount Clinic胎儿医学中心
期刊: GYNECOL ONCOL2013年6月6期33卷

Fetal Medicine Centre, Paramount Clinic, Hong Kong

 

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. © 2013 John Wiley & Sons, Ltd.

 

Choy, K.W.; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong;

通讯作者:Choy, K.W.; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong; email:richardchoy@cuhk.edu.hk
学科代码:妇产科学   关键词:non-invasive prenatal testing
来源: Scopus
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