Handbook of Genetic Counseling/Diabetic Embryopathy
Diabetic Embryopathy
Etiology and natural history
edit- Diabetic embryopathy is a clinical diagnosis based on one or more congenital anomalies or fetal/neonatal complications in a baby that are attributed to his/her mother's diabetes
- Three main kinds of diabetes mellitus; if a mother has any of these three types, there is a significant risk for pregnancy complications and future health problems for mother and her offspring
- Type I
- Insulin dependent
- Juvenile onset
- Prone to ketosis
- Body does not produce insulin because cells that produce insulin are attacked by immune system
- Multifactorial causes, but those with family history are at higher risk
- Tx: daily insulin injections
- Type II
- Non-insulin dependent
- Adult onset
- Not prone to ketosis
- Body does not produce enough insulin or cells cannot use insulin properly
- Inherited as an incompletely penetrating AR trait, but is definitely multifactorial
- Tx: diet, exercise, and sometimes medication
- Type III (Gestational diabetes)
- Onset during pregnancy
- Multifactorial causes, but those with family history of any diabetes are at higher risk
- Tx: consistent monitoring of blood sugar level, diet and exercise; occasionally, insulin is required
- Occurs in 1-4% of all pregnancies (higher in African American and Hispanic populations)
- 20-50% of women who develop gestational diabetes will develop type II diabetes in the next 5-10 years.
- Type I
- High blood sugar levels and ketones (substances that in large amounts are poisonous to the body) pass through the placenta to the baby, increasing the chance of birth defects
- When extra sugar is in a mother's blood during pregnancy, the baby is "fed" extra sugar, too, leading to a bigger baby that is harder to deliver
- It is not well-understood if the administration of insulin has teratogenic effects on the fetus; however, outcomes are definitely better when insulin is used to treat insulin-dependent maternal diabetes than when not
Clinical features
edit- All maternal and fetal features noted here are more severe and/or common when diabetic control is poor during pregnancy; nevertheless, even with good diabetic control, these features are observed
- Maternal morbidity factors in diabetic pregnancies which can increase a baby's risk for birth defects:
- Ketoacidosis
- Polyhydramnios
- Preeclampsia/chronic hypertension
- Preterm labor
- Cesarean section
- Fetal complications and birth defects associated with maternal diabetes
- Cardiac anomalies: most commonly VSD or TGV
- DiGeorge anomaly: due to abnormal neural crest cell migration; affects normal fetal development of the heart, thymus, and parathyroid glands
- NTD's: thought to be due to maternal diabetic factors causing improper embryonic folding; most commonly spina bifida and anencephaly
- Macrosomia: occurs in ~ 1/3 of all diabetic pregnancies; can cause life-long obesity for child
- IUGR: thought to be due to nutrient limitation associated with maternal hypertension.
- SAB: debated somewhat, but appears to be increased in pregnancies with poor diabetic control
- Caudal regression: agenesis of sacrum and lumbar spine, hypoplasia of lower extremities; thought to be due to improper embryonic folding caused by maternal diabetic factors
- Abnormal postnatal neurologic development: thought to be due to effects of ketosis
- Perinatal and neonatal complications associated with maternal diabetes
- Fetal asphyxia: can cause cerebral palsy as well as affecting many other systems such as pulmonary, GI, and cardiovascular
- Preterm birth: can lead to respiratory distress syndrome; occurs in ~ 30% of diabetic pregnancies, even when diabetic control has been meticulous
- Hypoglycemia: can cause seizures, coma, and brain damage if not recognized and treated quickly
- Hypocalcemia and hypomagnesemia: thought to be caused primarily by premature birth and its affects on parathyroid function
- Hyperbilirubinemia: thought to be caused primarily by premature birth
- Cardiomyopathy and/or cardiomegaly: most commonly seen in macrosomic infants of poorly controlled diabetic mothers
Surveillance and Treatment
edit- Preconceptionally
- Counseling recommended for all women with overt diabetes or a history of gestational diabetes
- Severity of woman's disease should be considered
- Woman should be apprised of possible complications to herself and her child
- During pregnancy
- Should be handled by a team of healthcare workers including: perinatologist, endocrinologist, dietician, and social worker
- Patient should be seen every 4-8 weeks, and should be considered "high risk"
- Mother should be closely monitored for diabetic control so that adjustments can be made for insulin, diet, and exercise
- Insulin therapy can be altered in many ways, including continuous subcutaneous infusion if necessary
- Must be careful to not over-insulinize mother and cause hypoglycemia
- Surveillance for health risks to mother should be closely monitored, including: cardiovascular health, renal function, blood pressure, weight gain
- Maternal serum screening should be done at 16 weeks
- Fetus should be monitored regularly via level II ultrasound for detection of macrosomia, IUGR, cardiac anomalies, NTDs, and any other associated conditions
- At birth
- Delaying delivery until term is often contraindicated when baby is macrosomic or when mother is preeclampsic
- Cesarean section rate is about 30-50% in diabetic pregnancies
- Delivery should occur at facility prepared to deal with fetal and maternal complications associated with diabetic pregnancy
- Postpartum management
- Infant should be closely monitored for associated conditions; EKG and serum tests should be run
- Mother's insulin should be closely monitored; many women need less insulin directly following delivery
Psychosocial issues
edit- Guilt on mother's part for risks and complications to her baby
- Anxiety about own health due to having a high risk pregnancy
- Financial concerns over costly prenatal and postnatal care
- Fear about possible outcomes of pregnancy
Sources
edit- Creasy, RK and Resnik, R. 1994. Maternal-Fetal Medicine : Principles and Practice, 3rd ed. Ch. 54 : "Diabetes in pregnancy" (p.934-978). W.B. Saunders Company : Philadelphia.
- American Diabetes Association Homepage-http://www.diabetes.org
- Larsen, W.J. 2001. Human Embryology, 3rd ed. Churchill Livingstone : New York.
Notes
editThe information in this outline was last updated in 2003.