Noninvasive Prenatal Testing for Fetal Aneuploidy
Noninvasive Prenatal Testing for Fetal Aneuploidy
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DOI：
10.1097/01.aog.0000423819.85283.f4
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发表时间：
2012-12-01
影响因子：
7.2
通讯作者：
中科院分区：
文献类型：
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作者：
利用孕妇血浆中的无细胞胎儿DNA进行的非侵入性产前检测为胎儿非整倍体的筛查提供了巨大的潜力。无细胞胎儿DNA检测应该是在产前咨询后患者知情的选择，而不应该是常规产前实验室评估的一部分。无细胞胎儿DNA检测不应该提供给低风险妇女或多胎妊娠妇女，因为它在这些群体中还没有得到充分的评估。无细胞胎儿DNA检测结果为阴性并不能保证怀孕不受影响。检测结果呈阳性的患者应接受遗传咨询，并应提供侵入性产前诊断以确认检测结果。
Noninvasive prenatal testing that uses cell free fetal DNA from the plasma of pregnant women offers tremendous potential as a screening tool for fetal aneuploidy. Cell free fetal DNA testing should be an informed patient choice after pretest counseling and should not be part of routine prenatal laboratory assessment. Cell free fetal DNA testing should not be offered to low-risk women or women with multiple gestations because it has not been sufficiently evaluated in these groups. A negative cell free fetal DNA test result does not ensure an unaffected pregnancy. A patient with a positive test result should be referred for genetic counseling and should be offered invasive prenatal diagnosis for confirmation of test results.