Surveillance survey of family history in children with neural tube defects

Abstract

<jats:sec> <jats:title>OBJECTIVE</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>METHODS</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>RESULTS</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>CONCLUSIONS</jats:title> <jats:p>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.</jats:p> </jats:sec>

Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara (Jalisco, Mexico)

“…We found that positive history of another relative with NTDs confers up to 68‐and 22‐times greater risk of having anencephaly or OSB, respectively, and together with consanguinity, that confers a 14‐fold increased risk of having OSB (Table 3), constitute a robust indicator of genetic susceptibility for ONTDs, despite the fact that they have infrequently been included in other epidemiological studies 34 . Patterns of transmission in most families with NTDs fit with a multifactorial model, although with a low degree of familial aggregation 1 .…”

“…Consanguinity raises the risks because increases the number of genes in common related to NTDs, such as those implicated in metabolic pathways of folate or glucose, among others 18 . Thus, members of these families are recognized as less responsive to prevention with FA supplements, highlighting the role of genetics in the pathogenesis of ONTDs, 34 although it should not be forgotten that they also share the same adverse environmental conditions.…”

Association of Location of Cyst with the family history and Mutated Gene among patients of Myelomeningocele

“…The association of cyst with the family history was statistically significant but due to limited number of samples can't be conclusive. Dupepe 29 et al in2017 found that among patients of NTDs the general prevalence of family history was 16.9% of which 3.1% were seen in first degree relatives. The prevalence of MMC among all NTDs in terms of family history was 17.7% with 3.8% in first degree relatives.…”

Detection of Novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele

“…In our study we found that among the fifty cases, only one patient showed the positive family history. Dupépé etal stated that there is relatively strong association of family history in neural tube defects 23 . It is quite possible that due to small sample size our results differ from them.…”