Lu Jessica, Saller Devereux N, Fraer Luanne M, Chen Beatrice A
Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, 300 Halket St, Pittsburgh, PA, 15213, USA.
Magee-Womens Research Institute, 204 Craft Ave, Pittsburgh, PA, 15213, USA.
J Genet Couns. 2018 Aug;27(4):902-908. doi: 10.1007/s10897-018-0219-7. Epub 2018 Jan 24.
Cell-free DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We performed a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital to evaluate patient choice and pregnancy outcomes. We analyzed data using descriptive statistics, Fisher's exact tests, and Wilcoxon rank-sum tests. Median maternal age was 36.0 years [interquartile range (IQR) 31, 39]; 64.1% of women (25/39) were advanced maternal age and 69.2% (27/39) had abnormal ultrasounds. Median gestational age at time of cfDNA testing was 18 3/7 weeks [IQR 12 2/7, 20 5/7]. cfDNA results included trisomy 21 (89.7%, 35/39), trisomy 18 (7.7%, 3/39), and both trisomy 21/monosomy X (2.6%, 1/39). Of 39 women, 22 (56.4%) continued and 10 (25.6%) terminated the pregnancy; six (15.4%) had fetal demises, and one was lost to follow-up. Of women continuing their pregnancies, 54.6% (12/22) declined further genetic counseling, and 77.3% (17/22) declined IDT. Only 14 women pursued IDT; not pursuing IDT was associated with continuing the pregnancy (Fisher's exact test, p = .001). All women terminating their pregnancy (90.0%, 9/10) pursued IDT or had major anomalies on ultrasound, suggesting that women considering termination undergo more confirmatory tests or already have high suspicion for an abnormal pregnancy.
与其他产前筛查方法相比，游离DNA（cfDNA）检测的敏感性和特异性有所提高，但仍建议采用侵入性诊断检测（IDT）进行确诊。我们对2012年3月至2015年9月期间在一家城市学术医院cfDNA检测结果异常的39名女性进行了回顾性病历审查，以评估患者的选择和妊娠结局。我们使用描述性统计、Fisher精确检验和Wilcoxon秩和检验分析数据。产妇年龄中位数为36.0岁[四分位间距（IQR）31，39]；64.1%的女性（25/39）为高龄产妇，69.2%（27/39）超声检查异常。cfDNA检测时的孕周中位数为18 3/7周[IQR 12 2/7，20 5/7]。cfDNA检测结果包括21三体（89.7%，35/39）、18三体（7.7%，3/39）以及21三体/单体X（2.6%，1/39）。39名女性中，22名（56.4%）继续妊娠，10名（25.6%）终止妊娠；6名（15.4%）发生胎儿死亡，1名失访。继续妊娠的女性中，54.6%（12/22）拒绝进一步的遗传咨询，77.3%（17/22）拒绝IDT。只有14名女性接受了IDT；未接受IDT与继续妊娠相关（Fisher精确检验，p = 0.001）。所有终止妊娠的女性（90.0%，9/10）均接受了IDT或超声检查发现严重异常，这表明考虑终止妊娠的女性会接受更多的确诊检查或已经高度怀疑妊娠异常。
