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
Authors' conclusion
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.
Study context
- Population
- Pregnant women with hyperglycaemia due to glucokinase-MODY (GCK-MODY), international cohort; reference standard: directly genotyped offspring sample43 pregnancies in feasibility study
- Participants
- 38 women
- Comparison
- NIPT-GCK vs fetal abdominal circumference on US for predicting fetal genotype
- Outcome
- Diagnostic accuracy (sensitivity, specificity) for predicting fetal genotype
- Follow-up
- 28 weeks' gestation
Methodological detailsinternational cohort, feasibility study, Feasibility: 43 consecutive pregnancies, July 2019 to September 2021
- International cohort
- Feasibility study
- Feasibility: 43 consecutive pregnancies, July 2019 to September 2021
Performance
As reported in the abstract
Prediction of fetal genotype
| Test or model | Sensitivity | Specificity |
|---|---|---|
| NIPT-GCK | 100% | 96% |
| Fetal abdominal circumference | 53% | 61% |
Sensitivity
NIPT-GCK100%
Fetal abdominal circumference53%
Specificity
NIPT-GCK96%
Fetal abdominal circumference61%
Further findings
Feasibility: valid fetal genotype (≥95% probability) reported
- Pregnancies with an amenable variant with a valid NIPT-GCK fetal genotype reported (repeated samples when needed)
- all 38
Feasibility: time to report
- Median time to report
- 5 weeks (IQR 3-8 weeks)
- 43 consecutive pregnancies, July 2019 to September 2021
Feasibility: samples received before 20 weeks' gestation (n=25)
- Median gestational age at result report
- 20 weeks (IQR 18-24)
- Reported before 28 weeks
- 23/25 (92%)
Original publication
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. Diabetologia. Published 31 August 2023. doi:10.
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