Cavalli Pietro, Ronda Elena
Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy.
Int J Endocrinol. 2017;2017:5846286. doi: 10.1155/2017/5846286. Epub 2017 Jan 15.
The use of folic acid in the periconceptional period can prevent about 70% of neural tube defects (NTDs). In the remaining cases, no medical prevention is available, and those conditions should be defined as folate-resistant NTDs. Rodent models suggest that some folate-resistant NTDs can be prevented by inositol (myoinositol and chiroinositol) supplementation prior to pregnancy. Should folic acid be combined with myoinositol periconceptional supplementation to reduce the overall risk of NTDs even in humans? Hereafter, we discuss the results from the PONTI study that strongly support both the effectiveness and safety of myoinositol periconceptional supplementation in preventing human NTDs. We further report on the largest case series of pregnancies treated with myoinositol and folic acid. At our institution, a sequential study during 12 years involved mothers at risk of fetal NTDs, and 29 babies from 27 pregnancies were born after periconceptional combined myoinositol and folic acid supplementation. No case of NTDs was observed, despite the high recurrence risk in the mothers. Taken together, those data suggest that periconceptional folic acid plus myoinositol can reduce both the occurrence and recurrence risks of NTDs in a greater number of cases than folic acid alone.
在围孕期使用叶酸可预防约70%的神经管缺陷（NTDs）。在其余病例中，尚无医学预防措施，这些情况应被定义为叶酸抵抗性NTDs。啮齿动物模型表明，某些叶酸抵抗性NTDs可通过在怀孕前补充肌醇（肌醇和手性肌醇）来预防。围孕期补充叶酸时，是否应与肌醇联合使用，以降低人类NTDs的总体风险？在此，我们讨论PONTI研究的结果，该研究有力地支持了围孕期补充肌醇预防人类NTDs的有效性和安全性。我们还进一步报告了使用肌醇和叶酸治疗的最大规模的妊娠病例系列。在我们机构，一项为期12年的序贯研究纳入了有胎儿NTDs风险的母亲，27次妊娠中的29名婴儿在围孕期联合补充肌醇和叶酸后出生。尽管母亲复发风险高，但未观察到NTDs病例。综上所述，这些数据表明，与单独使用叶酸相比，围孕期补充叶酸加肌醇可在更多病例中降低NTDs的发生和复发风险。
