PDF(Pubmed)
Abstract：
This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended.
摘要：
这项研究代表了我们对NIPT的第二次调查，涉及更广泛的患者队列，特别强调高危人群。随后将高风险组分为另外两组，以通过直接方法比较确诊病例与未确诊病例。该方法包括对罗马尼亚西部一个遗传中心的1400例连续病例的分析，其中NIPT用于评估特定胎儿染色体异常的风险。所有高危病例通过直接分析通过侵入性方法获得的胎儿细胞进行验证，包括绒毛膜绒毛取样和羊膜穿刺术。确认过程使用QF-PCR，核型分析,和针对每种情况定制的SNP-Array方法。结果：在1400例中的36例（2.57％）中发现了NIPT非整倍体的高风险，并在28例中得到了证实。该研究还发现，在1％的病例中，拷贝数变异（CNV）的风险增加，在两个实例中确认，涉及一个大的微缺失和一个大的微重复。21三体是唯一的异常，NIPT确认了所有已确定风险的病例。未通过侵入性方法验证的高风险NIPT结果，被分类为假阳性；在这些情况下，父母决定继续怀孕。总之,NIPT可以作为所有怀孕的筛查方法;然而，在高风险的情况下，强烈建议进行侵入性确认测试。
