Calculation of specific risk of trisomy 13: probably still a utopia - 05/12/25

Doi : 10.1016/j.jogoh.2025.103081

Corinne Sault ^a, Sophie Dreux ^b, Estelle Roland ^c, Gilles Renom ^c,^⁎

^a Laboratoire Eurofins Biomnis, 17/19 Avenue Tony Garnier BP 7322 69357 Lyon cedex 07, France

^b Laboratorie de Biochimie Hormonologie, Hôpital Universitaire Robert Debré, 48 Boulevard Sérurier 75935 Paris cedex 19, France

^c Laboratoire de Dépistage Périnatal, Centre de Biologie Pathologie et Génétique, Centre Hospitalier Universitaire, 59037, Lille cedex, France

^⁎ Corresponding author at: Laboratoire de Dépistage Périnatal, Centre de Biologie Pathologie et Génétique, Centre Hospitalier Universitaire, CS 70002, 59037, Lille cedex, France Laboratoire de Dépistage Périnatal Centre de Biologie Pathologie et Génétique Centre Hospitalier Universitaire CS 70002 Lille cedex 59037 France

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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.