Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
Diabetes Care. 2012 Sep;35(9):1832-4. doi: 10.2337/dc12-0151. Epub 2012 Jul 6.
In women with hyperglycemia due to heterozygous glucokinase (GCK) mutations, the fetal genotype determines its growth. If the fetus inherits the mutation, birth weight is normal when maternal hyperglycemia is not treated, whereas intensive treatment may adversely reduce fetal growth. However, fetal genotype is not usually known antenatally, making treatment decisions difficult.
We report two women with gestational diabetes mellitus resulting from GCK mutations with hyperglycemia sufficient to merit treatment.
In both women, DNA from chorionic villus sampling, performed after high-risk aneuploidy screening, showed the fetus had inherited the GCK mutation. Therefore, maternal hyperglycemia was not treated. Both offspring had a normal birth weight and no peripartum complications.
In pregnancies where the mother has hyperglycemia due to a GCK mutation, knowing the fetal GCK genotype guides the management of maternal hyperglycemia. Fetal genotyping should be performed when fetal DNA is available from invasive prenatal diagnostic testing.
对于因杂合子葡萄糖激酶（GCK）突变导致的高血糖女性，胎儿基因型决定其生长情况。如果胎儿遗传了突变，在未治疗母体高血糖的情况下，出生体重正常，而强化治疗可能会不利地降低胎儿生长。然而，通常无法在产前确定胎儿基因型，这使得治疗决策变得困难。
我们报告了两例因 GCK 突变导致的妊娠糖尿病，高血糖足以需要治疗。
在这两名女性中，绒毛取样的 DNA 经过高风险三体筛查后，显示胎儿遗传了 GCK 突变。因此，未治疗母体高血糖。两个后代的出生体重均正常，无围产期并发症。
在因 GCK 突变导致母亲高血糖的妊娠中，了解胎儿 GCK 基因型可指导母体高血糖的管理。当可从有创性产前诊断性检测中获得胎儿 DNA 时，应进行胎儿基因分型。
