Pathology
Images
Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
Index
Contents
Authors
Up
Next
Back
×
+ Introduction
+ Support
+ Atlas of fetal pathology
Diabetic embryopathy
Introduction

The incidence of congenital malformations in infants of diabetic mothers is increased 2 to 4 times compared to general population. These malformations are frequently multiple.

Macroscopic appearance

Typical congenital malformations reported in diabetic embryopathy:

  • heart defects: double outlet right ventricle, transposition of the great vessels, tetralogy of Fallot
  • skeletal defects: caudal regression anomaly  —  agenesis/dysgenesis of caudal vertebrae, hypoplasia of lower limbs. (see caudal regresion syndrome); caudal regression has the strongest association with diabetes (occuring more than 200 times more frequently in infants of diabetic mothers than in other infants):
    • femoral hypoplasia
    • upper limb defects
    • amelia
  • neural tube defects (anencephaly, spina bifida)
  • VACTERL association (see VACTERL)

Acrania (73619)

Etiology

Teratogenic effect of diabetes occurs during the critical 2 to 6 weeks after conception. The exact cause of the teratogenic effect is not known. Specialized preconceptional and prenatal care with strict glycemic control reduce the likelihood of congenital defects. There is close correlation between the incidence of congenital malformations and glykosylated hemoglobin HbA1c values. If optimal glycemic control is achieved prior conception and maintained during the gestation, the malformation rates decrease similar to those in the healthy population.

This risk is the same for diabetes mellitus of type 1 and 2.

Peroral antidiabetics are contraindicated during pregnancy.

Pictures

Acrania, mother with type I. diabetes: Acrania, diabetic mother, Macro, autopsy (73619) Acrania, diabetic mother, Macro, autopsy (73620)

Case study
Diabetic embryopathy
Marta Ježová
History

37 — year old woman with type 2 diabetes mellitus, obesity and hypertension. There was no preconceptional and prenatal care. The mother continued on peroral anditiabetics. Second trimestr ultrasonography revealed multiple congenital malformations of the fetus. The aborted fetus was macerated.

Final diagnosis: diabetic embryopathy.

Macroscopic appearance

Macerated 17-week male fetus.

  • caudal regression anomaly, phocomelia of the lower limbs
  • polydactyly of the left lower rudimentary limb
  • cleft palate
  • micrognathia
  • microtia
  • heart defect: double outlet right ventricle with ventricular septal defect

It was not possible to examine the brain and kidneys because of severe maceration of the fetus.

Pictures

Macerated 17-week fetus with phocomelic diabetic embryopathy: Diabetic embryopathy, Macro, autopsy (72753)