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Non-invasive prenatal testing for monogenic diabetes

Introduction:

The Exeter Genomics Laboratory is offering bespoke non-invasive prenatal testing in pregnancies at risk of monogenic diabetes where knowledge of fetal genotype will impact pregnancy management, delivery and immediate postnatal care.

Who can be tested?

  • Pregnant women with a confirmed diagnosis of Glucokinase (GCK) MODY.
  • Pregnant women where either they or the baby’s father has a confirmed diagnosis of HNF4A MODY.

Who do I contact and what information do you need with the referral?

Please email Jayne Houghton PhD FRCPath (jaynehoughton@nhs.net) the lead Clinical Scientist for this service with requests for testing. Please include the gestational age of the pregnancy and if the patient was tested in Exeter please provide the patient’s name, date of birth and NHS number. If the genetic testing for the patient was undertaken at a different laboratory, please provide a copy of the diagnostic genetic report with the referral, or provide details of the specific pathogenic variant if this is not available. The name and date of birth of the father of the baby also needs to be provided before we can send out a pack (so that the request forms can be pre-populated with the details and the information can be pre-logged onto our system).