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Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World

Melissa Connolly1, Louise McClelland1, Pierpaola Tannorella2

  • 1West Midlands Genomics Laboratory, Birmingham, UK.

Prenatal Diagnosis
|June 25, 2026
PubMed
Summary

Prenatal genetic testing for Beckwith-Wiedemann syndrome (BWS) is feasible, with a 9.75% detection rate for molecular disturbances. While generally reliable, mosaicism can lead to false negatives, so results should be interpreted cautiously.

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