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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Non-invasive prenatal screening of fetal sex chromosomal abnormalities: Perspective of pregnant women
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Non-invasive prenatal screening of fetal sex chromosomal abnormalities: Perspective of pregnant women

机译：胎儿性染色体异常的无创产前筛查：孕妇的观点

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摘要

Objective: To study whether pregnant women would like to be informed if sex chromosomal abnormalities (SCA) were suspected with the non-invasive prenatal diagnosis of fetal Down syndrome (the NIFTY) test. Methods: Two hundred and one patients carried a singleton pregnancy requesting the NIFTY test were invited to give their preferences if there was suspicion of SCA by the NIFTY test. Results: Over 93.5% were ethnic Chinese, with a mean age of 36. Prior Down screening was positive in 66 (32.8%). Over 50% of subjects considered SCA to be better in terms of disability compared to Down syndrome, and only 5.2% considered SCA to be worse. Yet, the majority (198, 98.5%) indicated that they wanted to be informed if there was suspicion of SCA. Of whom 34.8% would have an amniocentesis for confirmation, while 57.1% were not certain, indicating the possibility of accepting these conditions. Conclusion: Besides screening Down syndrome by NIFTY, most pregnant women would also like to be informed if there was suspicion of SCA. Those screened positive should be counseled by those with experience in genetics to avoid unnecessary pregnancy termination.
机译：目的：研究是否希望通过非侵入性产前诊断胎儿唐氏综合症（NIFTY）测试怀疑孕妇是否患有性染色体异常（SCA）。方法：211名单胎妊娠患者要求进行NIFTY测试，如果通过NIFTY测试怀疑患有SCA，则应邀请他们进行偏爱。结果：华裔华裔超过93.5％，平均年龄为36岁。先前的Down筛查为阳性的有66位（32.8％）。与唐氏综合症相比，超过50％的受试者认为SCA在残疾方面更好，而只有5.2％的受试者认为SCA更糟。但是，大多数人（198，98.5％）表示，如果想知道SCA，他们希望得到通知。其中34.8％的患者需要进行羊膜穿刺术以进行确认，而57.1％的患者尚不确定，表明接受这些条件的可能性。结论：除了通过NIFTY筛查唐氏综合症外，大多数孕妇还想知道是否怀疑SCA。那些筛查阳性的人应接受遗传学方面的咨询，以避免不必要的终止妊娠。

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