Neural tube defects: A need for population-based prevention program
نویسندگان
چکیده
through spinal defect and histopathological fi ndings.[2] Majority of NTDs are isolated/non-syndromic and are not associated with other congenital malformations. However in about 10% of the cases, NTD can be a part of genetic syndrome hence may follow Mendelian inheritance. The syndromes associated with neural tube defects include Walker-Warburg syndrome, Jarcho-Levin syndrome, Robert syndrome and Meckel-Gruber syndrome. Rarely, NTD can be associated with chromosomal abnormalities including trisomy 13 and 18, triploidy and other chromosomal rearrangement.[2] Association of these genetic syndromes are important to assess as fi nal outcome and risk of recurrence in these families depends upon the individual syndrome. In syndromes with autosomal recessive inheritance, risk of recurrence in the siblings of affected individual is 25% while isolated NTD follow multifactorial inheritance pattern. Risk of recurrence in the siblings of isolated cases of NTD is 2%-5% after one affected child and 10% after the birth of two affected children.
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