Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes

Sine Knorr; Laura L. Knudsen; Anne L. Madsen; Lene R. Madsen; Lene Mortensen; Henrik H. Thomsen; Lars Peter Sørensen; Per G. Ovesen; Jens Fuglsang; Ulla Kampmann

doi:10.1111/dme.70021

Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes

Sine Knorr^*, Laura L. Knudsen, Anne L. Madsen, Lene R. Madsen, Lene Mortensen, Henrik H. Thomsen, Lars Peter Sørensen, Per G. Ovesen, Jens Fuglsang, Ulla Kampmann

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

Abstract

Aims: Pregnant women are occasionally misdiagnosed with gestational diabetes (GDM) when they may have glucokinase monogenic diabetes (GCK-MODY). Differentiating between GCK-MODY and GDM is critical due to the distinct treatment strategies required during and after pregnancy. Since pregnancy often elicits the first glucose tolerance test, it provides a unique opportunity to identify individuals with GCK-MODY. However, testing all pregnant women with GDM for GCK-MODY is expensive, and the use of clinical criteria is warranted. An Irish study suggested using a combined criteria of a pre-pregnancy body mass index (BMI) <25 kg/m² and fasting glucose ≥5.5 mmol/L to differentiate GCK-MODY from GDM. Therefore, we aimed to identify women with GCK-MODY during pregnancy using these combined criteria in a Danish population of women with GDM. Additionally, we aimed to screen for other MODY subtypes. Methods: We recruited women from the Central Denmark Region diagnosed with GDM between April 2019 and December 2022. Women meeting the criteria of pre-pregnancy BMI <25 kg/m² and fasting glucose ≥5.5 mmol/L were offered screening for MODY (17 known genetic variants) using Illumina's Next Generation Sequencing. Results: Of the 1270 women with GDM, 46 met the MODY screening criteria. Of these, 41 were offered MODY screening, 34 participated and 1 woman was identified with MODY (MODY 8–CEL variant). Conclusion: The current Danish GDM screening guidelines do not apply with recommending the use of pre-pregnancy BMI <25 kg/m² and fasting glucose ≥5.5 mmol/L as criteria for identifying women with GCK-MODY among women with GDM in the Danish population.

Originalsprog	Engelsk
Artikelnummer	e70021
Tidsskrift	Diabetic Medicine
Vol/bind	42
Nummer	5
ISSN	0742-3071
DOI	https://doi.org/10.1111/dme.70021
Status	Udgivet - maj 2025

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10.1111/dme.70021

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Knorr, S., Knudsen, L. L., Madsen, A. L., Madsen, L. R., Mortensen, L., Thomsen, H. H., Sørensen, L. P., Ovesen, P. G., Fuglsang, J., & Kampmann, U. (2025). Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes. Diabetic Medicine, 42(5), Artikel e70021. https://doi.org/10.1111/dme.70021

@article{293f7da027bc46b98103c49a804bb5e5,

title = "Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes",

abstract = "Aims: Pregnant women are occasionally misdiagnosed with gestational diabetes (GDM) when they may have glucokinase monogenic diabetes (GCK-MODY). Differentiating between GCK-MODY and GDM is critical due to the distinct treatment strategies required during and after pregnancy. Since pregnancy often elicits the first glucose tolerance test, it provides a unique opportunity to identify individuals with GCK-MODY. However, testing all pregnant women with GDM for GCK-MODY is expensive, and the use of clinical criteria is warranted. An Irish study suggested using a combined criteria of a pre-pregnancy body mass index (BMI) <25 kg/m2 and fasting glucose ≥5.5 mmol/L to differentiate GCK-MODY from GDM. Therefore, we aimed to identify women with GCK-MODY during pregnancy using these combined criteria in a Danish population of women with GDM. Additionally, we aimed to screen for other MODY subtypes. Methods: We recruited women from the Central Denmark Region diagnosed with GDM between April 2019 and December 2022. Women meeting the criteria of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L were offered screening for MODY (17 known genetic variants) using Illumina's Next Generation Sequencing. Results: Of the 1270 women with GDM, 46 met the MODY screening criteria. Of these, 41 were offered MODY screening, 34 participated and 1 woman was identified with MODY (MODY 8–CEL variant). Conclusion: The current Danish GDM screening guidelines do not apply with recommending the use of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L as criteria for identifying women with GCK-MODY among women with GDM in the Danish population.",

keywords = "diabetes mellitus, gestational diabetes mellitus, MODY (maturity-onset diabetes of the young), pregnancy, screening",

author = "Sine Knorr and Knudsen, {Laura L.} and Madsen, {Anne L.} and Madsen, {Lene R.} and Lene Mortensen and Thomsen, {Henrik H.} and S{\o}rensen, {Lars Peter} and Ovesen, {Per G.} and Jens Fuglsang and Ulla Kampmann",

note = "Publisher Copyright: {\textcopyright} 2025 The Author(s). Diabetic Medicine published by John Wiley & Sons Ltd on behalf of Diabetes UK.",

year = "2025",

month = may,

doi = "10.1111/dme.70021",

language = "English",

volume = "42",

journal = "Diabetic Medicine",

issn = "0742-3071",

publisher = "Wiley-Blackwell Publishing Ltd.",

number = "5",

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Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes. / Knorr, Sine; Knudsen, Laura L.; Madsen, Anne L. et al.
I: Diabetic Medicine, Bind 42, Nr. 5, e70021, 05.2025.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

TY - JOUR

T1 - Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes

AU - Knorr, Sine

AU - Knudsen, Laura L.

AU - Madsen, Anne L.

AU - Madsen, Lene R.

AU - Mortensen, Lene

AU - Thomsen, Henrik H.

AU - Sørensen, Lars Peter

AU - Ovesen, Per G.

AU - Fuglsang, Jens

AU - Kampmann, Ulla

PY - 2025/5

Y1 - 2025/5

N2 - Aims: Pregnant women are occasionally misdiagnosed with gestational diabetes (GDM) when they may have glucokinase monogenic diabetes (GCK-MODY). Differentiating between GCK-MODY and GDM is critical due to the distinct treatment strategies required during and after pregnancy. Since pregnancy often elicits the first glucose tolerance test, it provides a unique opportunity to identify individuals with GCK-MODY. However, testing all pregnant women with GDM for GCK-MODY is expensive, and the use of clinical criteria is warranted. An Irish study suggested using a combined criteria of a pre-pregnancy body mass index (BMI) <25 kg/m2 and fasting glucose ≥5.5 mmol/L to differentiate GCK-MODY from GDM. Therefore, we aimed to identify women with GCK-MODY during pregnancy using these combined criteria in a Danish population of women with GDM. Additionally, we aimed to screen for other MODY subtypes. Methods: We recruited women from the Central Denmark Region diagnosed with GDM between April 2019 and December 2022. Women meeting the criteria of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L were offered screening for MODY (17 known genetic variants) using Illumina's Next Generation Sequencing. Results: Of the 1270 women with GDM, 46 met the MODY screening criteria. Of these, 41 were offered MODY screening, 34 participated and 1 woman was identified with MODY (MODY 8–CEL variant). Conclusion: The current Danish GDM screening guidelines do not apply with recommending the use of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L as criteria for identifying women with GCK-MODY among women with GDM in the Danish population.

AB - Aims: Pregnant women are occasionally misdiagnosed with gestational diabetes (GDM) when they may have glucokinase monogenic diabetes (GCK-MODY). Differentiating between GCK-MODY and GDM is critical due to the distinct treatment strategies required during and after pregnancy. Since pregnancy often elicits the first glucose tolerance test, it provides a unique opportunity to identify individuals with GCK-MODY. However, testing all pregnant women with GDM for GCK-MODY is expensive, and the use of clinical criteria is warranted. An Irish study suggested using a combined criteria of a pre-pregnancy body mass index (BMI) <25 kg/m2 and fasting glucose ≥5.5 mmol/L to differentiate GCK-MODY from GDM. Therefore, we aimed to identify women with GCK-MODY during pregnancy using these combined criteria in a Danish population of women with GDM. Additionally, we aimed to screen for other MODY subtypes. Methods: We recruited women from the Central Denmark Region diagnosed with GDM between April 2019 and December 2022. Women meeting the criteria of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L were offered screening for MODY (17 known genetic variants) using Illumina's Next Generation Sequencing. Results: Of the 1270 women with GDM, 46 met the MODY screening criteria. Of these, 41 were offered MODY screening, 34 participated and 1 woman was identified with MODY (MODY 8–CEL variant). Conclusion: The current Danish GDM screening guidelines do not apply with recommending the use of pre-pregnancy BMI <25 kg/m2 and fasting glucose ≥5.5 mmol/L as criteria for identifying women with GCK-MODY among women with GDM in the Danish population.

KW - diabetes mellitus

KW - gestational diabetes mellitus

KW - MODY (maturity-onset diabetes of the young)

KW - pregnancy

KW - screening

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U2 - 10.1111/dme.70021

DO - 10.1111/dme.70021

M3 - Journal article

C2 - 40051305

AN - SCOPUS:86000730902

SN - 0742-3071

VL - 42

JO - Diabetic Medicine

JF - Diabetic Medicine

IS - 5

M1 - e70021

ER -

Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes

Abstract

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