Publications
European journal of medical geneticsSep 2023 |
66
(
11
),
104855
DOI:
10.1016/j.ejmg.2023.104855

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome

Rosenblum, Jessica; Van der Veeken, Lennart; Aertsen, Michael; Meuwissen, Marije; Jansen, Anna C
Product Used
NGS
Abstract
ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome.
Product Used
NGS

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