Work

Calculation of specific risk of trisomy 13: probably still a utopia

Year: 2025

Type: article

Abstract: BACKGROUND: In France, legislation regarding pregnancy monitoring considers screening solely for Down syndrom or trisomy 21 (T21). However, health authorities are exploring the possibility of calculating the risks of trisomy 13 (T13) and trisomy 18 (T18), Patau and Edwards syndromes respectively, for patients with indicative serum marker profiles (MSM), to make wider use of the potential of non-invasive prenatal testing (NIPT). Currently, only LifeCycle (revvity®), a software distributed worlwide, offers a specific risk calculation for T13, but its performance has never been assessed. METHODS: We retrospectively studied 88 cases of T13 from a cohort of over 800,000 patients who underwent first-trimester MSM testing. In each case, in addition to the T21 risk, we calculated the specific risks of T18 and T13 using the LifeCycle software, both with and without the measurement of nuchal translucency for these two aneuploidies. RESULTS: None of the patients with a foetus affected by T13 showed an increased risk for this aneuploidy without simultaneously presenting a high risk for T21 or T18. CONCLUSION: The specific risk calculation for T13 using LifeCycle does not improve the screening for this aneuploidy.

Source: Journal of Gynecology Obstetrics and Human Reproduction

DOI: 10.1016/j.jogoh.2025.103081

Authors: Corinne Sault, Sophie Dreux, Estelle Roland, Gilles Renom

Institutions: Hôpital Robert-Debré, Centre Hospitalier Universitaire de Lille

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,360