Wagner Amy J, Mitchell Michael E, Tomita-Mitchell Aoy
Division of Pediatric Surgery, Department of Surgery, Medical College of Wisconsin, 999 North 92nd Street, Suite C320, Milwaukee, WI 53226, USA.
Division of Cardiothoracic Surgery, Department of Surgery, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
Clin Perinatol. 2014 Dec;41(4):957-66. doi: 10.1016/j.clp.2014.08.013. Epub 2014 Oct 1.
Noninvasive prenatal testing (NIPT) using cell-free fetal (cfDNA) offers potential as a screening tool for fetal anomalies. All pregnant women should be offered prenatal screening and diagnostic testing based on current guidelines. Adoption of NIPT in high-risk pregnancies suggests a change in the standard of care for genetic screening; there are advantages to an accurate test with results available early in pregnancy. This accuracy decreases the overall number of invasive tests needed for diagnosis, subjecting fewer pregnancies to the risks of invasive procedures. Women undergoing NIPT need informed consent before testing and accurate, sensitive counseling after results are available.
使用游离胎儿DNA（cfDNA）的无创产前检测（NIPT）作为一种胎儿异常筛查工具具有潜力。应根据现行指南为所有孕妇提供产前筛查和诊断检测。在高危妊娠中采用NIPT表明基因筛查的护理标准发生了变化；准确的检测且在妊娠早期即可获得结果具有诸多优势。这种准确性减少了诊断所需的侵入性检测的总体数量，使较少的妊娠面临侵入性操作的风险。接受NIPT的女性在检测前需要获得知情同意，在结果出来后需要得到准确、贴心的咨询。
