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Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and
Raymond Wang1, Maria Luísa Martínez-Frías, John M Graham
1Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.
Insights
Infants of diabetic mothers (IDM) have an increased risk of oculoauriculo-vertebral spectrum (OAVS) and associated malformations. Early screening for hearing loss, cardiac, renal, and skeletal anomalies is recommended for IDM with OAVS features.
Area of Science:
- Developmental biology
- Medical genetics
- Pediatric endocrinology
Background:
- Maternal diabetes mellitus is a known risk factor for congenital anomalies.
- The oculoauriculo-vertebral spectrum (OAVS) is a complex congenital disorder affecting craniofacial structures.
- Infants of diabetic mothers (IDM) may have an increased risk for certain birth defects.
Observation:
- A case series and birth defects registry analysis were conducted.
- Data from 30 IDM with dysplastic ears and a Spanish birth defects registry were analyzed.
- Odds ratios (OR) for OAVS and ear anomalies in IDM were calculated.
Findings:
- Gestational diabetes mellitus showed a statistically significant increased odds ratio for OAVS (OR 2.28, P=.03).
- IDM with OAVS exhibited high rates of hemifacial microsomia (50%), hearing loss (46.7%), and cardiovascular defects (36.7%).
- Associated anomalies included vertebral, renal, and limb malformations, as well as DiGeorge sequence.
Implications:
- IDM with OAVS features require comprehensive workup including hearing, cardiac, renal, and skeletal evaluations.
- The findings suggest a potential link between maternal diabetes and neural crest cell development.
- Early detection and management of associated conditions in IDM are crucial for improved outcomes.
Objectives:
To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS).
Study Design:
Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in Spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals.
Results:
Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85).
Conclusions:
Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.