Pregnancy outcome with maternal gene mutations and 17q12 deletions.

There is an increasing body of literature regarding monogenic diabetes, particularly the more common forms of glucokinase and mutations (MODY2 and MODY3). There is relatively little published literature regarding rarer mutations. mutations and 17q12 deletions may be associated with a broad range of organ dysfunction, renal disease and diabetes in particular resulting in high-risk pregnancies. This manuscript describes pregnancy outcomes in a woman with an mutation and 2 women with an /17q12 deletion and reviews the previously published literature. It highlights the significant rate of adverse maternal and fetal outcomes, and the maternal features suggestive of the diagnosis which should be considered in preconception counselling.