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Perinatal Genomics

Genetic disease is estimated to impact 1% of all newborns. Babies that require care in the NICU experience at least a 10-fold increased risk for a genetic cause of their symptoms. The Division of Neonatal-Perinatal Medicine’s dedicated perinatal genomics program serves the unique needs of these babies and their families.

The perinatal genomics program helps clinicians and families determine if there is a genetic cause for why a baby needs NICU care. The division offers cutting edge diagnostic evaluations and genetic testing, access to specialists trained in caring for babies impacted by a genetic diagnosis, and novel therapies for many rare diseases. Faculty also lead a variety of research to better understand how to diagnosis and care for babies with a confirmed or suspected genetic diagnosis when current medical knowledge gaps are identified.

Services

  • Expert genetic evaluations and comprehensive genetic counseling
  • Rapid, comprehensive genetic testing with results available in less than a week
  • Family focused care with integrated support from parents who have previously experienced a NICU journey with their own children
  • Precision therapeutic care based on the patient’s genetic diagnosis
  • Access to the Undiagnosed Rare Disease Clinic to help achieve a genetic answer when clinical testing has been unable to provide a diagnosis

Program Faculty and Providers

60345-Suhrie, Kristen

Kristen R. Suhrie, MD

Associate Professor of Clinical Pediatrics

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portrait of victoria thomas

Victoria J. Thomas, NP

Nurse Practitioner

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