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

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.

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PubMed
Published
2025-04-01
Primary Topic
Demographic Trends and Gender Preferences
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article
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[Diagnostic algorithm of fetal sex discordance in the era of genomic NIPT : clinical illustration and practical recommendation].

Marie Laterre, Camille Chatelain, Sophie Lorquet, Michelle Deberg et al.
PubMed
Demographic Trends and Gender Preferences
article

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

Marie Laterre, Camille Chatelain, Sophie Lorquet, Michelle Deberg, Aline Vanwynsberghe, Julie Harvengt, Julie Fudvoye, Saskia Bulk, Jean-Stéphane Gatot, Alix Senterre
article en

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.

PubMedVol. 80(4)
Cliniques Universitaires Saint-Luc (BE), Clinique Saint-Joseph (BE), CHR Verviers (BE), Centre Hospitalier Universitaire de Liège (BE), Biologie de la Reproduction, Environnement, Epigénétique et Développement (FR)
Openalex Percentile: Top 90%
Demographic Trends and Gender Preferences
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