Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic villi sampling (CVS) offered to women experiencing an early pregnancy loss.

Methods: During a 3-year period (January 2016–December 2018), CVS was offered to women experiencing an early pregnancy loss before the evacuation of the products of conception (POC) to retrieve chorionic villi, irrespective of the number of previous losses. A new molecular work-up was prospectively assayed encompassing a first QF-PCR round (with the 21, 18, 13, 7, X, and Y chromosomes), a second QF-PCR round (with the 15, 16, and 22 chromosomes), and a high resolution SNP-array in those cases with normal QF-PCR results. A control group in which POC were collected after surgical uterine evacuation was used to be compared with the intervention group.

Results: Around 459 women were enrolled in the intervention group (CVS) and 185 in the control group (POC after uterine evacuation). The QF-PCR testing success rates were significantly higher in the intervention group (98.5%: 452/459) as compared to the control group (74%: 109/147; p < 0.001), while the chromosomal anomaly rate at the two QF-PCR rounds was similar between the two groups: 52% (234/452) in the intervention and 42% (46/109) in the control group (p = 0.073). The SNP-array was performed in 202 QF-PCR normal samples of the intervention group and revealed 67 (33%) atypical chromosomal anomalies (>10 Mb), 5 (2.5%) submicroscopic pathogenic copy number variants, and 2 (1%) variant of uncertain significance (VOUS).

Conclusion: Eighty-two percent of women experiencing an early pregnancy loss opted for a CVS. The testing success rates were higher in the intervention group (CVS; 98%) as compared to the control group (POC; 74%). The overall yields were 52% by QF-PCR (including three complete hydatiform moles), and 16% by SNP-array, including 15% atypical chromosomal anomalies and 1.1% submicroscopic pathogenic copy number variants.

目的： 探索基于逐步使用定量荧光PCR（QF-PCR）的新分子后处理技术的应用，该定量荧光PCR扩展到绒毛膜绒毛取样（CVS）获得的绒毛膜绒毛中的八个染色体和单核苷酸多态性阵列（SNP-array）提供给遭受早孕流产的妇女。

方法：在3年期间（2016年1月至2018年12月）中，向经历早期妊娠流产的妇女提供了CVS，而这些妇女在撤离受孕产品（POC）之前取回绒毛膜绒毛，而不论之前的流失数目如何。前瞻性地检测了新的分子后处理，包括第一轮QF-PCR（具有21、18、13、7，X和Y染色体），第二轮QF-PCR（具有15、16和22个染色体） ），并且在那些QF-PCR结果正常的情况下使用高分辨率SNP阵列。将手术后排空后收集POC的对照组与干预组进行比较。

结果：干预组（CVS）入组约459名妇女，对照组（子宫排空后POC）入组185名妇女。干预组（98.5％：452/459）的QF-PCR测试成功率显着高于对照组（74％：109/147；对照组）。p <0.001），而两组QF-PCR的染色体异常率相似：干预组为52％（234/452），对照组为42％（46/109）（p= 0.073）。SNP阵列在干预组的202个QF-PCR正常样品中进行，发现67个（33％）非典型染色体异常（> 10 Mb），5个（2.5％）亚显微病原体拷贝数变异和2个（1％）不确定重要性（VOUS）的变体。

结论：经历早孕流产的妇女中有82％选择了CVS。与对照组（POC； 74％）相比，干预组（CVS； 98％）的测试成功率更高。QF-PCR的总收率为52％（包括三个完整的葡萄胎），SNP阵列的总收率为16％，包括15％的非典型染色体异常和1.1％的亚显微病原体拷贝数变异。