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. 2025 Jul;45(8):988-993.
doi: 10.1002/pd.6837. Epub 2025 Jun 17.

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

Malgorzata I Srebniak  1 , Marjolein Weerts  1 , Marieke Joosten  1 , Mark Drost  1 , Robert Jan Galjaard  1 , Vyne van der Schoot  1 , Myrthe van den Born  1 , Maarten F C M Knapen  2 , Krista Prinsen  2 , Jerome M J Cornette  2 , Philip L J DeKoninck  2 , Dimitri Papatsonis  3 , Julia Spaan  3 , Anneke Dijkman  4 , Sabina de Weerd  5 , Attie T J I Go  2 , Karin E M Diderich  1 , Diane Van Opstal  1
Affiliations

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

Malgorzata I Srebniak et al. Prenat Diagn. 2025 Jul.

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.

Keywords: CVS; NIPT; amniocentesis; chorionic villi sampling; follow‐up test; non‐invasive prenatal test; prenatal diagnosis.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Results in patients with increased risk for trisomy 13 in cfDNA (NIPT result) *CPM type based on cytogenomic analysis in placenta after birth, # diagnoses of CPM made based on normal results in additional confirmatory amniocenteses/cordocentesis (n = 5 details of these cases are shown in Table 2), and one based on normal results of skin biopsy analysis after intrauterine fetal death. AC, amniocentesis; CPM, confined placental mosaicism; CVS, chorinic villi biopsy; mos, mosaic; T13, trisomy 13; VT, vanishing twin.
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