Objective

To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center.

Methods

A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test and post-test genetic counseling was provided, and the pregnancy outcomes were recorded. The results of NIPT and clinical follow-up data were analyzed together with the pregnancy outcomes, confirmatory testing results, and ultrasound findings.

Results

Of the 40,311cases were includes in the study, successful follow-up was conducted in 468 (1.16%) cases with high risk, 225 (0.56%) cases with rare autosomal trisomy (RAT) and copy number variation (CNV). 39,572 (98.17%) cases with low risk and 623 (1.57%) cases of which were confirmed with adverse pregnancy outcomes. 46 (0.1%) cases with failed tests. Among them, 398 (84.7%) cases with high-risk results chose invasive testing, revealing 198 true positive cases. In cases with RAT and CNV results, 189 cases underwent invasive testing, revealing 5 cases RAT and 4 pathogenic CNVs.

Conclusions

NIPT appears to be effective in detecting the fetal chromosomal aneuploidies T21, T18 and SCAs, but it exist false positive/negative cases, unconfirmed high-risk cfDNA results, and the high false positive rate in cases with RAT and CNV results implied the limitations of this screening method. Our study showed the importance to associate cfDNA screening results with clinical follow-up data and provided information that may help with result interpretation, genetic counseling and the decision making in clinic.

中文翻译：

---

在单个产前诊断中心对4万多例胎儿染色体非整倍性进行检测的临床资料和无创产前检查的随访分析。

目的

根据来自单个产前诊断中心的后续信息，评估无创性产前检查（NIPT）在检测染色体非整倍性方面的功效。

方法

回顾性调查了40,311例。使用BGI方案进行筛查，提供测试前和测试后的遗传咨询，并记录妊娠结局。分析了NIPT的结果和临床随访数据，以及妊娠结局，验证性测试结果和超声检查结果。

结果

在研究中包括的40311例病例中，成功随访了468例（1.16％）高危病例，225例（0.56％）罕见的常染色体三体性（RAT）和拷贝数变异（CNV）病例。39,572（98.17％）例低危病例和623（1.57％）例被证实具有不良妊娠结局。测试失败的案例为46（0.1％）。其中，有398例（84.7％）高危结果病例选择了侵入性检测，发现198例真正的阳性病例。在有RAT和CNV结果的病例中，对189例患者进行了侵入性检测，其中有5例RAT和4株致病性CNV。

结论

NIPT似乎可以有效检测胎儿染色体非整倍性T21，T18和SCA，但存在假阳性/阴性病例，未经证实的高风险cfDNA结果，并且在RAT和CNV结果病例中高假阳性率暗示了其局限性这种筛选方法。我们的研究表明将cfDNA筛查结果与临床随访数据相关联的重要性，并提供了可能有助于结果解释，遗传咨询和临床决策的信息。