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Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
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DOI：10.1002/pd.70206.png)
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Abstract
En 中文
Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith-Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which often occur as mosaicism. As a growing number of requests for prenatal BWS testing is observed, data from genetic prenatal BWS testing was compiled to delineate its suitability as well as limitations.
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