Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-06-17 DOI:10.1002/pd.6837

Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette, Philip L J DeKoninck, Dimitri Papatsonis, Julia Spaan, Anneke Dijkman, Sabina de Weerd, Attie T J I Go, Karin E M Diderich, Diane Van Opstal

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引用次数: 0

Abstract

Objectives: 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).

Methods: 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.

Results: 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.

Conclusions: 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.

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绒毛膜绒毛取样快速确认21、18和13三体的高危NIPT结果。

目的：国际社会推荐在高风险无创产前检查（NIPT）后进行羊膜穿刺术（AC），因为胎盘嵌合引起的绒毛膜绒毛取样（CVS）可能导致不确定的结果。我们的研究旨在评估在CVS后对21、18和13三体进行确证性羊膜穿刺术的必要性，并分别分析细胞滋养细胞（CTB）和间充质核（MC）。方法：回顾性分析2017年4月至2022年12月的确认性细胞遗传学结果。采用QF-PCR和/或SNP阵列对CTB和MC进行分离分析，必要时进行核型分析。结果：在338例患者中，70%（237/339）的女性接受了CVS(70.5%), 30%（101/338）的女性接受了AC。13.5%（5/37）的13三体患者、2.5%（4/158）的21%三体患者和0%（0/42）的18三体患者需要额外的羊膜穿刺术检测出MC中的马赛克三体。结论：21,18和13三体的高危NIPT结果分别为97.5%，100%和86.5%的患者获得了明确的CVS诊断。此外，我们的临床实践证实，大多数孕妇（70%）选择CVS作为快速确诊试验。我们的结论是，如果在本研究中计算的潜在不确定结果的风险前进行测试前咨询，CVS和AC都可以提供。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling