[Diagnostic algorithm of fetal sex discordance in the era of genomic NIPT : clinical illustration and practical recommendation].

Abstract

The systematic reimbursement of non-invasive prenatal testing (NIPT) in Belgium has led to earlier diagnoses of fetal sex discordance. Variations in sex differentiation may be isolated or associated with more complex syndromic etiologies. Some genetic conditions necessitate prenatal diagnosis and early management, while other conditions do not require invasive prenatal testing. Thereby, implementation of diagnostic algorithms has become essential for the management of conditions underlying fetal sex discordance, to optimize obstetric follow-up and immediate neonatal care. Healthcare systems in each country should also be considered in these practical recommendations. This article proposes a decision tree for the management of fetal sex discordance with NIPT in Belgium, as illustrated by a clinical report of a newborn presenting a diagnosis of mixed gonadal dysgenesis.