Diabetes Genes

GCK-MODY NIPT

Study team & Contact

Chief Investigator

Dr Alice Hughes

Tel: 01392 408111

E-mail: alicehughes1@nhs.net

Co-investigators

Professor Andrew Hattersley

E-mail: a.t.hattersley@exeter.ac.uk

Dr Jayne Houghton

E-mail: jaynehoughton@nhs.net

Professor Maggie Shepherd

E-mail: m.shepherd1@nhs.net

Funder

Wellcome Trust GW4-Clinical Academic Training PhD Fellowship

Other Support

Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust

Non-invasive prenatal testing for fetal genotype in GCK-MODY pregnancies: investigating diagnostic accuracy and feasibility

Study Title
Non-invasive prenatal testing for fetal genotype in GCK-MODY pregnancies: investigating diagnostic accuracy and feasibility

Study Design
Consecutive with retrospective collection of data

Study Participants
Pregnant women with GCK-MODY who have undergone non-invasive prenatal testing

Planned Sample Size
30

Follow up duration
0 years

Planned Study Period
Samples for pregnancies between 2011-2021

Study Summary
This study aims to determine the diagnostic accuracy and feasibility of non-invasive prenatal testing for fetal genotype in pregnancies where the mother has GCK-MODY.

We will conduct an analysis of the results of non-invasive prenatal testing samples collected from pregnant women with GCK-MODY.

We will compare diagnostic accuracy for fetal genotype with the existing standard (measurement of the fetal abdominal circumference on ultrasound) and look at the feasibility of testing in clinical practice.

















Protocol and Analysis Plan Version Number and Date:

Version 1.0.4               14th June 2022

Research Reference Numbers

Genetic Beta Cell Research Bank

IRAS Number: 316050

REC: Wales Research Ethics Committee 5
22/WA/0268

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