BACKGROUND AND OBJECTIVE:
Congenital neural tube defects (NTDs) are the most common central nervous system congenital defect and among the most common congenital malformations of all organ systems. NTDs are the leading cause of neonatal and infant mortality and childhood disability. The objective was to develop risk groups for having children with NTDs among reproductive-age women based on the detection of endogenous and exogenous risk factors and to offer a differentiated approach to fetal NTD prevention.
A retrospective analysis of risk factors in women who gave birth to children with NTD (175 women) and a control group (60 mothers of children without NTD, congenital malformations, or other chromosomal aberrations) and a prospective analysis of the folate cycle metabolic disorders and methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C were carried out.
The inclusion criteria for reproductive-age women in risk groups for fetal NTD should be regarded as the identification of ≥1 of the following risk factors: history of miscarriages or prenatal fetal death (odds ratio [OR] = 3.4); living in polluted areas and using well water for cooking (OR = 2.7); family history of strokes, heart attacks, varicose veins, thromboembolism, and thrombosis (OR = 3.04); family history of gastrointestinal tract or reproductive system cancer (OR 2.9); family history of congenital malformation (OR 3.9); congenital malformations in other children in the family (OR 4.36); and maternal age >35 years (OR = 2.1). When planning a pregnancy, women from the high-risk group are encouraged to identify levels of homocysteine and folic acid in the blood serum. Revealing hyperhomocystinemia alone or in combination with low folate levels in the blood before conception can be considered predictive of fetal NTD formation. The presence of hyperhomocystinemia is an indication for methylenetetrahydrofolate reductase polymorphism identification to determine preventive measures.
Forming risk groups for fetal NTD among reproductive-age women and detecting changes in folate metabolism will facilitate preventive measures by determining the timing and amounts of folic acid supplements and dietary recommendations.
- Copyright © 2015 by the American Academy of Pediatrics