Objective. To retrospectively analyze the results of prenatal diagnoses of noninvasive prenatal screening- (NIPS) positive pregnant women and discuss whether there is a need for chromosomal microarray analysis (CMA). Methods. The study recruited 1,019 NIPS-positive women from two prenatal diagnostic centers. Based on clinical advice, they opted for traditional karyotype analysis or CMA. Single nucleotide polymorphism array testing was performed on a commercial 750K microarray chip (Affymetrix CytoScan 750K Array). Results. Of the NIPS-positive women, 761 (74.7%) accepted the prenatal diagnosis. There were 418 (54.9%) abnormal results, and most (99.5%) were chromosome aneuploidy or structural abnormalities. Only three cases were confirmed as pathogenic copy number variation (CNVs), which were found only with CMA and not by karyotype analysis. Fifteen women were variants of uncertain significance (VUS) CNV. In addition, 300 women selected opted for both karyotype analysis and CMA for prenatal diagnosis: in 275 (91.7%) cases, the results of the two modalities were consistent, while in the remaining 25, they were not. In three cases, the additional positive results obtained with CMA were potentially clinically significant. Conclusions. CMA may not be useful for many women positive for trisomy 21/18/13 based on NIPS results, because traditional karyotype analysis can identify most problems. However, it can yield important additional findings in women positive for fetal sex chromosome aneuploidy (SCA). Further clinical studies are needed to confirm these findings.

中文翻译：

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CMA 对 NIPS 阳性结果的女性进行产前诊断的必要性。

客观。回顾性分析无创产前筛查（NIPS）阳性孕妇的产前诊断结果，探讨是否需要进行染色体微阵列分析（CMA）。方法。该研究从两个产前诊断中心招募了 1,019 名 NIPS 阳性女性。根据临床建议，他们选择了传统的核型分析或 CMA。在商业 750K 微阵列芯片 (Affymetrix CytoScan 750K Array) 上进行单核苷酸多态性阵列测试。结果. 在 NIPS 阳性的女性中，761 人（74.7%）接受了产前诊断。结果异常418例（54.9%），大多数（99.5%）为染色体非整倍体或结构异常。只有三例被证实为致病性拷贝数变异（CNVs），仅在 CMA 中发现，而不是通过核型分析。15 名女性是意义不确定 (VUS) CNV 的变体。此外，选择的 300 名女性同时选择了核型分析和 CMA 进行产前诊断：在 275 例 (91.7%) 例中，两种方法的结果一致，而在其余 25 例中则不一致。在三个案例中，使用 CMA 获得的额外阳性结果具有潜在的临床意义。结论. 根据 NIPS 结果，CMA 可能对许多 21/18/13 三体阳性的女性没有用处，因为传统的核型分析可以识别大多数问题。然而，它可以在胎儿性染色体非整倍体 (SCA) 阳性的女性中产生重要的额外发现。需要进一步的临床研究来证实这些发现。