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Author

Yves Sznajer

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Aug 2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell‐Free DNA Screening Technologies in Belgium

Prenatal cell‐free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory‐developed tests (LDTs) show high accuracy in validation studies, real‐world longitudinal performance data are lacking.

Armelle Duquenne, N. Brison, I. Parijs et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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