Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the past eight years. She also shares her own recent experience as a patient going through her first pregnancy, grappling with the implications of a positive carrier testing result.



Story Reference Points:

Patient story #1: Myotonic Dystrophy @ 4:34

Patient story #2: Sialidosis @ 9:15

Patient story #3: A rare recessive condition and an unexpected finding on microarray @ 14:49

Patient story #4: Newborn Screening and Homocystinuria @ 22:49

Patient story #5: Christina’s own story with prenatal carrier testing @ 25:41


Links and Resources

Information on Myotonic Dystrophy from the Muscular Dystrophy Association
Facebook group for Sialidosis

Information and Resources related to High ROH (Regions of Homozygosity)

Newborn Screening Resource

National Organization for Rare Diseases (NORD)

Rare Advocacy Movement (RAM)


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