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Surveillance survey of family history in children with neural tube defects
Esther B Dupépé1, Daxa M Patel1, Brandon G Rocque1,2
1Department of Neurosurgery and.
Insights
A family history of neural tube defects (NTDs) was found in 16.9% of children diagnosed with NTDs. This suggests a significant role for genetics and epigenetics in NTD development, even with folate supplementation.
Area of Science:
- Medical Genetics
- Developmental Biology
- Public Health
Background:
- Neural tube defects (NTDs) are serious birth defects with known risk factors.
- The contribution of family history to NTD development remains understudied.
- Understanding genetic predispositions is crucial for NTD prevention and management.
Purpose of the Study:
- To investigate the prevalence and patterns of family history among patients diagnosed with NTDs.
- To explore the association between family history and NTD occurrence in a specific patient cohort.
- To identify potential genetic and epigenetic factors contributing to NTDs.
Main Methods:
- Surveys were administered to 254 mothers of patients with diagnosed NTDs at a Spina Bifida Clinic.
- Data collected included family history of NTDs, central nervous system (CNS) disorders, and other birth defects.
- Maternal and paternal lineage histories were analyzed for NTDs and related conditions.
Main Results:
- 16.9% of children with NTDs had a family history of these defects, with 3.1% in first-degree relatives.
- For myelomeningocele patients, 17.7% reported a family history of NTDs (3.8% in first-degree relatives).
- Family history of other CNS disorders, Down syndrome, cerebral palsy, clubfoot, cardiac defects, and cleft lip/palate were also documented.
Conclusions:
- A significant family history prevalence (16.9%) for NTDs was observed in affected children.
- No substantial difference was found between maternal and paternal lineage in family history of NTDs.
- The high rate of positive family history underscores the potential importance of genetic and epigenetic factors in NTD pathogenesis, even amid folate supplementation efforts.
Abstract:
OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.