Van Allen M I, Fraser F C, Dallaire L, Allanson J, McLeod D R, Andermann E, Friedman J M
Department of Medical Genetics, University of British Columbia, Vancouver.
CMAJ. 1993 Nov 1;149(9):1239-43.
To prevent the recurrence of neural tube defects (NTDs) in families at increased risk of having offspring with NTDs with the use of periconceptional folic acid supplementation.
Genetic counselling and prenatal diagnosis of NTDs.
NTDs cause stillbirth, neonatal death and severe disabilities. The cost for medical care and rehabilitation in the first 10 years of life of a child with spina bifida cystica was estimated to be $42,507 in 1987.
The authors reviewed the medical literature, communicated with investigators from key studies, reviewed policy recommendations from other organizations and drew on their own expertise. A recent multicentre randomized controlled trial showed that among women at high risk of having a child with an NTD those who received 4 mg/d of folic acid had 72% fewer cases of NTD-affected offspring than nonsupplemented women. Two previous intervention studies also demonstrated that folic acid supplementation was effective in reducing the rate of NTD recurrence. Several retrospective studies support this conclusion.
Recommendations are the consensus of the Clinical Teratology Committee of the Canadian College of Medical Geneticists (CCMG) and have been approved by the CCMG Board. The committee believes that primary prevention of NTDs is preferable to treatment or to prenatal detection and abortion.
BENEFITS, HARMS AND COSTS: Folic acid supplementation should result in fewer NTDs among infants in Canada and ancillary savings in medical costs. The recommended dosage of folic acid is not known to be associated with adverse effects. Higher dosages of folic acid may make vitamin B12 deficiency difficult to diagnose and may alter seizure frequency in patients with epilepsy due to drug interactions with anticonvulsants.
A minimum dosage of folic acid of 0.8 mg/d, not to exceed 5.0 mg/d, is recommended along with a well-balanced, nutritious diet for all women who are at increased risk of having offspring with NTDs and who are planning a pregnancy or may become pregnant. Supplementation should begin before conception and continue for at least 10 to 12 weeks of pregnancy.
These guidelines are similar to those of the Society of Obstetricians and Gynaecologists of Canada, the US Centers for Disease Control and Prevention and the Department of Health in Britain.
These guidelines were developed by the CCMG Clinical Teratology Committee and endorsed by the Board of the CCMG. No funding for the development of these guidelines was obtained from any other sources.
通过孕前补充叶酸,预防生育神经管缺陷(NTD)患儿风险增加的家庭中NTD的复发。
NTD的遗传咨询和产前诊断。
NTD可导致死产、新生儿死亡和严重残疾。据估计,1987年患有脊柱裂的儿童在出生后头10年的医疗护理和康复费用为42,507美元。
作者查阅了医学文献,与关键研究的研究者进行了交流,审查了其他组织的政策建议,并借鉴了自身的专业知识。最近一项多中心随机对照试验表明,在生育NTD患儿风险较高的女性中,每日服用4毫克叶酸的女性所生育的受NTD影响的后代比未补充叶酸的女性少72%。此前两项干预研究也表明,补充叶酸可有效降低NTD复发率。多项回顾性研究支持这一结论。
这些建议是加拿大医学遗传学家学院(CCMG)临床致畸学委员会的共识,并已得到CCMG董事会的批准。该委员会认为,NTD的一级预防优于治疗或产前检测及流产。
益处、危害和成本:补充叶酸应能减少加拿大婴儿中的NTD病例,并节省医疗费用。目前尚不知道推荐剂量的叶酸会产生不良反应。高剂量叶酸可能会使维生素B12缺乏难以诊断,并且由于与抗惊厥药物的药物相互作用,可能会改变癫痫患者的癫痫发作频率。
对于所有生育NTD患儿风险增加且计划怀孕或可能怀孕的女性,建议每日补充叶酸的最低剂量为0.8毫克,不超过5.0毫克,并搭配均衡、营养的饮食。补充应在受孕前开始,并持续至怀孕至少10至12周。
这些指南与加拿大妇产科学会、美国疾病控制与预防中心以及英国卫生部的指南相似。
这些指南由CCMG临床致畸学委员会制定,并得到CCMG董事会的认可。这些指南的制定未从任何其他来源获得资金。