Exome & General Genetics

Session # B-251

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

  • 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.

  • Authors: Zöe Powis; Samantha Brummitt; Christina L. Alamillo; Kendra Walker; Jessica Gage; Regina Arvon; Deepali Shinde; Kelly Radtke
  • Conference: NSGC 2017
  • Date: Thursday, Sep 14, 2017 5:45pm - 7:00pm

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