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Holoprosencephaly in infants of diabetic mothers
Insights
Infants born to diabetic mothers have a significantly increased risk of holoprosencephaly. This finding highlights the critical need for preconception diabetes management to prevent birth defects.
Area of Science:
- Developmental biology
- Pediatric neurology
- Endocrinology
Background:
- Maternal diabetes is a known risk factor for various congenital anomalies.
- Holoprosencephaly is a severe brain malformation with significant morbidity.
- Previous studies suggest a link between maternal diabetes and certain birth defects.
Purpose of the Study:
- To investigate the association between maternal diabetes and holoprosencephaly.
- To quantify the risk of holoprosencephaly in infants of diabetic mothers.
- To emphasize the importance of diabetes control during pregnancy.
Main Methods:
- Case series analysis of infants with holoprosencephaly born to diabetic mothers.
- Literature review and data compilation from personal communications.
- Comparison of incidence figures with other known birth defects.
Main Results:
- Seven cases of holoprosencephaly in infants of diabetic mothers were identified.
- An additional 15 cases were compiled from literature and personal communications.
- The risk of holoprosencephaly in infants of diabetic mothers is comparable to that of caudal regression malformations.
Conclusions:
- Holoprosencephaly is specifically increased in infants of diabetic mothers.
- The embryologic timing of these defects underscores the importance of pregnancy planning.
- Improved diabetes control before and during pregnancy is crucial for preventing these malformations.
Abstract:
We report seven infants of diabetic mothers, affected with holoprosencephaly malformation sequence. An additional 15 cases assembled from personal communications and the literature indicate that holoprosencephaly, like neural tube, cardiac, and caudal defects, is specifically increased in children of diabetic mothers. Incidence figures from newborn surveys demonstrate a risk for holoprosencephaly in infants of diabetic mothers comparable to the 1% risk for caudal regression malformation sequence. The embryologic timing of cranial, cardiac, and caudal defects emphasizes the need for pregnancy planning and diabetes control.