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Prenatal Genetic Counseling for a Novel Genetic Etiology identified in a fetus with Compound Heterozygous Alterations in MYH6

Date:
Thursday, Sep 14, 2017 5:45pm – 7:00pm
Conference:
NSGC 2017
Authors:
Christina L. Alamillo, Deepali Shinde, Jessica Gage, Kelly Radtke, Kendra Walker, Regina Arvon, Samantha Brummitt, Zöe Powis
  • Case report of fetus with complex heart defects with parentally inherited compound heterozygous MYH6 alterations identified by exome, a novel genetic etiology.
  • The patents had a previous affected pregnancy with no genetic testing. This diagnosis lead to testing of subsequent unaffected pregnancy not found to be compound heterozygous.
  • This case demonstrates that the use of prenatal DES results in unique counseling challenges when diagnoses are made prior to the onset of symptoms, especially when novel genetic etiologies are identified.
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