Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
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The authors aimed to evaluate the suitability and limitations of prenatal genetic testing for Beckwith-Wiedemann syndrome (BWS), particularly in the context of increasing requests for such testing. An analysis of 646 prenatal samples revealed a detection rate of 9.75% for BWS-specific molecular disturbances, with a notable failure rate of 4.3% primarily in native samples. The study concludes that while prenatal testing for BWS is advisable in certain cases, the potential for false-negative results due to mosaicism must be acknowledged.
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