Women with a pregnancy affected by a neural tube defect (NTD) are encouraged to take folic acid prior to a subsequent pregnancy, but it is unknown whether organized attempts to identify and counsel such women to prevent recurrent NTDs are cost effective.
Data from the South Carolina recurrence-prevention program for October 2001-September 2002 were analyzed between October 2002 and December 2003 to calculate costs. Cost-effectiveness modeling of the program during 1992-2006 was conducted during 2007. Results were calculated for three scenarios based on recurrence risk, supplement use, and the effectiveness of folic acid in preventing recurrences. For each scenario, quality-adjusted life years (QALYs) were calculated separately using prevented NTD-affected live births; prevented NTD-affected births (including fetal deaths); and all prevented NTD-affected pregnancies.
The prevention program cost approximately $155,000 per year in 2003 dollars to protect 35 pregnancies and prevent approximately one NTD. The direct costs associated with an NTD depend on type and outcome, but are approximately $560,000 in 2003 dollars for a live birth with spina bifida. The base-case cost-effectiveness ratio was $39,600 per QALY gained from avoided NTD-affected live births and stillbirths, and $14,700 per QALY gained from the avoidance of all NTD-affected pregnancies. The baseline NTD recurrence risk and the use of folic acid supplements by women who are at high risk for an NTD-affected pregnancy were influential parameters.
The South Carolina NTD recurrence-prevention program appears comparable in cost effectiveness to other preventive services. Other states might consider including NTD recurrence prevention in birth defect-prevention programs.
"As a result of major advances in medical care, the majority of babies born with SB survive to adulthood with varying degrees of morbidity (Centers for Disease Control, 1992). Spina bifida represents a significant burden for those affected and their families with an estimated $806,000 in 2007 dollars for lifetime medical care costs when living up to 65 years of age (Grosse et al., 2008). This financial burden based on medical costs alone does not even begin to account for the societal costs or the emotional impact on the affected individuals and their families. "
[Show abstract][Hide abstract] ABSTRACT: Neural tube defects (NTDs) are congenital anomalies caused by a combination of genetic and environmental influences. A defect below the head region resulting in protuberance of meninges and nervous tissue is termed myelomeningocele (MM). MM, the most common NTD compatible with survival, occurs in approximately 1 in 1000 births worldwide. Maternal preconceptional and periconceptional folate supplementation reduces the risk of NTDs by up to 70%. A key enzyme in folate metabolism is 5, 10-methylene-tetrahydrofolate reductase (MTHFR).
Sequence the 12 exons of the MTHFR gene among 96 subjects with MM to identify variants potentially contributing to the disease trait.
Exons were amplified by polymerase chain reaction, and the products were sequenced with the Sanger method to reveal sequence variants compared to MTHFR reference sequences. Association of variants was examined by Fisher's test.
A novel variant c.171+3G>T was identified in intron 1 in one affected subject. The variant was not found in the subject's unaffected mother's DNA, and the unaffected father's DNA was unavailable. We found significant differences in allele frequencies for seven SNPs in MM subjects compared with ethnically matched reference populations reported in the single nucleotide polymorphism database.
We identified a novel variant c.171+3G>T in the MTHFR gene that potentially affects splicing in an affected subject. In addition, we observed five SNPs (rs13306561, rs2274976, rs2066462, rs12121543, and rs1476413) in the MTHFR gene not previously shown to associate with MM. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with MM.
Birth Defects Research Part A Clinical and Molecular Teratology 02/2012; 94(2):84-90. DOI:10.1002/bdra.22884 · 2.09 Impact Factor
"Very few studies have evaluated the cost-effectiveness of prevention strategies for NTDs. In the 10 identified economic evaluation studies of folic acid for the prevention of NTDs, 8 evaluated the cost-effectiveness of folic acid fortification in foods [4, 18, 23, 25, 30, 36, 44, 45], and 2 evaluated the cost-effectiveness of periconceptional supplementation of folic acid [22, 41] (Table 2). Nine of the studies included direct medical costs only; indirect costs and benefits were included in only one study . "
[Show abstract][Hide abstract] ABSTRACT: Neural tube defects (NTDs) are the second most common group of serious birth defects. Although folic acid has been shown to reduce effectively the risk of NTDs and measures have been taken to increase the awareness, knowledge, and consumption of folic acid, the full potential of folic acid to reduce the risk of NTDs has not been realized in most countries. To understand the economic burden of NTDs and the economic impact of preventing NTDs with folic acid, a systematic review was performed on relevant studies. A total of 14 cost of illness studies and 10 economic evaluations on prevention of NTDs with folic acid were identified. Consistent findings were reported across all of the cost of illness studies. The lifetime direct medical cost for patients with NTDs is significant, with the majority of cost being for inpatient care, for treatment at initial diagnosis in childhood, and for comorbidities in adult life. The lifetime indirect cost for patients with spina bifida is even greater due to increased morbidity and premature mortality. Caregiver time costs are also significant. The results from the economic evaluations demonstrate that folic acid fortification in food and preconception folic acid consumption are cost-effective ways to reduce the incidence and prevalence of NTDs. This review highlights the significant cost burden that NTDs pose to healthcare systems, various healthcare payers, and society and concludes that the benefits of prevention of NTDs with folic acid far outweigh the cost. Further intervention with folic acid is justified in countries where the full potential of folic acid to reduce the risk of NTDs has not been realized.
European Journal of Pediatrics 05/2011; 170(11):1391-400. DOI:10.1007/s00431-011-1492-8 · 1.89 Impact Factor
"Subsequently, most westernized medical administrations, such as the United States Public Health Services, has recommended that women of childbearing age should consume 400 µg of folic acid daily during the periconceptional period (Fohr et al., 2002) due to its ability to alleviate congenital abnormalities (from 30 to 70%) (Fohr et al., 2002; Houcher et al., 2009). Furthermore, one study has reported that NTD-affected pregnant mothers who did not receive any folic acid supplementations exhibited a 2-3% recurrence during pregnancy (Grosse et al., 2008). "
[Show abstract][Hide abstract] ABSTRACT: Neural tube defects (NTDs) are severe but common congenital malformations. Neonates who suffer from NTDs may experience long-term complications throughout their lives. These NTD complications which have been reduced worldwide are primarily due to environmental and genetic factors. Multicenter NTD studies conducted in Malaysia report a prevalence ranging from 0.79 to 1.29 per 1000 live births based on NTD etiologies, such as anti-epileptic drug consumption and maternal folate levels. In addition, intervention studies concluded that daily consumption of 400 µg of folic acid effectively reduced NTD risk; however, this data has not been robustly tested on the entire population due to the inefficiency of the three interrelated folate transport mechanisms and autoantibody generation. In this review, we evaluated the studies indicating that folic acid supplementation may not be the sole factor in reducing NTD incidence and that autoantibodies may have an important role in the NTD etiological pathway.
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