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Recognizing the unique prenatal phenotype of Prader-Willi Syndrome (PWS) indicates the need for a diagnostic methylation test.

Prenatal diagnosis - 1 Jun 2020

Srebnik Naama, Gross Even-Zohar Noa, Salama Abdalla, Sela Hen Y, Hirsch Harry J, Gross-Tsur Varda, Eldar-Geva Talia

Abstract excerpt

OBJECTIVES: Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by mental retardation, morbid obesity, and endocrine and behavior disorders. We previously showed in a small group of patients that PWS may have a unique prenatal phenotype. We aimed to characterize clinical and ultrasonic features in a larger series of pregnancies with a PWS fetus. METHODS: We retrospectively interviewed all mothers...

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Diagnosis, Differential
DNA Methylation
Fetus
Genetic Testing
Israel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prader-Willi Syndrome

Prenatal Diagnosis

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PMID: 32297338
DOI: 10.1002/pd.5712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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