Srebniak Malgorzata I, Weerts Marjolein, Joosten Marieke, Drost Mark, Galjaard Robert Jan, van der Schoot Vyne, van den Born Myrthe, Knapen Maarten F C M, Prinsen Krista, Cornette Jerome M J, DeKoninck Philip L J, Papatsonis Dimitri, Spaan Julia, Dijkman Anneke, de Weerd Sabina, Go Attie T J I, Diderich Karin E M, Van Opstal Diane
Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Prenat Diagn. 2025 Jul;45(8):988-993. doi: 10.1002/pd.6837. Epub 2025 Jun 17.
International societies recommend amniocentesis (AC) after high-risk non-invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosaicism. Our study aimed to evaluate the necessity of confirmatory amniocentesis following CVS for trisomies 21, 18, and 13 with separate analysis of cytotrophoblast (CTB) and mesenchymal core (MC).
We retrospectively analyzed the confirmatory cytogenetic results between April 2017 and December 2022. CTB and MC were separated and analyzed by QF-PCR and/or SNP array, and karyotyping when needed.
Among 338 cases, 70% (237/339) of women underwent CVS (70.5%) and 30% (101/338) underwent AC. Mosaic trisomy in MC requiring additional amniocentesis was detected in 13.5% (5/37) of cases referred due to trisomy 13, 2.5% (4/158) of cases of trisomy 21% and 0% (0/42) of cases of trisomy 18.
A definitive diagnosis of CVS was achieved in 97.5%, 100%, and 86.5% of patients with high-risk NIPT results for trisomy 21, 18, and 13, respectively. Moreover, our clinical practice confirms that the majority of pregnant women (70%) opted for CVS as a quick confirmatory test. We conclude that both CVS and AC can be offered when preceded by pre-test counseling on the risks of potential inconclusive results as calculated in this study.
由于胎盘嵌合导致绒毛取样（CVS）结果可能不确定，国际学会建议在高危无创产前检测（NIPT）后进行羊膜穿刺术（AC）。我们的研究旨在评估CVS后对21、18和13三体进行确诊性羊膜穿刺术的必要性，并分别分析细胞滋养层（CTB）和间充质核心（MC）。
我们回顾性分析了2017年4月至2022年12月期间的确诊细胞遗传学结果。CTB和MC分离后通过QF-PCR和/或单核苷酸多态性（SNP）阵列进行分析，并在需要时进行核型分析。
在338例病例中，70%（237/339）的女性接受了CVS（70.5%），30%（101/338）的女性接受了AC。因13三体转诊的病例中，13.5%（5/37）检测到MC中的嵌合三体需要额外的羊膜穿刺术；21三体病例中为2.5%（4/158）；18三体病例中为0%（0/42）。
对于21、18和13三体高危NIPT结果的患者，分别有97.5%、100%和86.5%通过CVS获得了明确诊断。此外，我们的临床实践证实，大多数孕妇（70%）选择CVS作为快速确诊检测。我们得出结论，在进行本研究计算的潜在不确定结果风险的检测前咨询后，可以同时提供CVS和AC。
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