Obstet Gynecol. 2012 Dec;120(6):1532-4. doi: 10.1097/01.AOG.0000423819.85283.f4.
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.
利用孕妇血浆中的游离胎儿 DNA 进行的无创性产前检测作为胎儿非整倍体的筛查工具具有巨大的潜力。在进行检测前咨询后，应将游离胎儿 DNA 检测作为一项知情的患者选择，而不应该成为常规产前实验室评估的一部分。游离胎儿 DNA 检测不应提供给低风险女性或多胎妊娠女性，因为在这些人群中尚未充分评估其效果。阴性的游离胎儿 DNA 检测结果不能确保妊娠不受影响。阳性检测结果的患者应转介接受遗传咨询，并应提供侵入性产前诊断以确认检测结果。
