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When the fetus inherits a maternal pathogenic <jats:italic>GCK<\/jats:italic> variant, normal fetal growth is anticipated, and insulin treatment of maternal hyperglycaemia is not recommended. At present, fetal genotype is estimated from measurement of fetal abdominal circumference on ultrasound. Non-invasive prenatal testing of fetal <jats:italic>GCK<\/jats:italic> genotype (NIPT-GCK) using cell-free DNA in maternal blood has recently been developed. We aimed to compare the diagnostic accuracy of NIPT-GCK with that of ultrasound, and determine the feasibility of using NIPT-GCK to guide pregnancy management.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We studied an international cohort of pregnant women with hyperglycaemia due to GCK-MODY. We compared the diagnostic accuracy of NIPT-GCK with that of measurement of fetal abdominal circumference at 28 weeks\u2019 gestation (<jats:italic>n<\/jats:italic>=38) using a directly genotyped offspring sample as the reference standard. In a feasibility study, we assessed the time to result given to clinicians in 43 consecutive pregnancies affected by GCK-MODY between July 2019 and September 2021.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In terms of diagnostic accuracy, NIPT-GCK was more sensitive and specific than ultrasound in predicting fetal genotype (sensitivity 100% and specificity 96% for NIPT-GCK vs sensitivity 53% and specificity 61% for fetal abdominal circumference 75th percentile). In terms of feasibility, a valid NIPT-GCK fetal genotype (\u226595% probability) was reported in all 38 pregnancies with an amenable variant and repeated samples when needed. The median time to report was 5 weeks (IQR 3\u20138 weeks). For the 25 samples received before 20 weeks\u2019 gestation, results were reported at a median gestational age of 20 weeks (IQR 18\u201324), with 23\/25 (92%) reported before 28 weeks.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions\/interpretation<\/jats:title>\n                <jats:p>Non-invasive prenatal testing of fetal genotype in GCK-MODY pregnancies is highly accurate and is capable of providing a result before the last trimester for most patients. This means that non-invasive prenatal testing of fetal genotype is the optimal approach to management of GCK-MODY pregnancies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical Abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1007\/s00125-023-05982-9","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T20:21:16Z","timestamp":1693513276000},"page":"1997-2006","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing"],"prefix":"10.1007","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-4447","authenticated-orcid":false,"given":"Alice E.","family":"Hughes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9474-1536","authenticated-orcid":false,"given":"Jayne A. 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Prenat Diagn 36(7):636\u2013642. https:\/\/doi.org\/10.1002\/pd.4832","journal-title":"Prenat Diagn"}],"container-title":["Diabetologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00125-023-05982-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00125-023-05982-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00125-023-05982-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T14:05:43Z","timestamp":1695996343000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00125-023-05982-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":42,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["5982"],"URL":"https:\/\/doi.org\/10.1007\/s00125-023-05982-9","relation":{},"ISSN":["0012-186X","1432-0428"],"issn-type":[{"value":"0012-186X","type":"print"},{"value":"1432-0428","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,31]]},"assertion":[{"value":"21 April 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"We are grateful to the patients and their clinicians for their assistance with this work. We would like to thank the laboratory and biomedical scientists (Kevin Colclough, David Evans, Amy Hutchings, Natasha Philpott and Rachel Van Heughten) at the Exeter Genomics Laboratory, Royal Devon University Hospitals NHS Foundation Trust, for their technical support.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Acknowledgements"}},{"value":"Individual-level data used in this study are not freely available to protect the identity of research participants. Information for researchers and protocols for the study and submissions to the Genetic Beta Cell Research Bank are available online ( and ). Requests for additional data specifically related to this work are available to researchers through managed open collaboration. Requests will be considered after liaising with the relevant study and ethics committees, and should be made in writing to the corresponding author, AT Hattersley.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability"}},{"value":"AEH was supported by a Wellcome Trust and University of Exeter-funded GW4-Clinical Academic Training PhD Fellowship (WT203918). MHS is an NIHR senior nurse and research leader (NIHR4-SNMRL058). SEF is a Wellcome Trust Senior Research Fellow (223187\/Z\/21\/Z). ATH is employed as a core member of staff within the NIHR Exeter Clinical Research Facility, and is a NIHR Emeritus Senior Investigator. This study was supported by the NIHR Exeter Biomedical Research Centre. The study sponsor\/funder was not involved in the design of the study, the collection, analysis and interpretation of data or writing the report, and did not impose any restrictions regarding publication of the report. The views expressed in this paper are those of the authors and not necessarily those of any funder.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"The authors declare that there are no relationships or activities that might bias, or be perceived to bias, their work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019 relationships and activities"}},{"value":"AEH and ATH designed the study. JALH, AJC, GS and MHS collected the data. JALH, BB, SEF and ATH analysed the data. AEH wrote the first draft of the manuscript with successive drafts, receiving input from AJC, SEF and ATH. JALH, BB, AJC, GS and MHS contributed to editing the manuscript. AEH and ATH directly accessed and verified the data reported in the manuscript. All authors reviewed and approved the final manuscript for submission. ATH is the guarantor of this work.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Contribution statement"}}]}}