Joó József Gábor, Beke Artúr, Papp Zoltán, Csaba Akos, Rab Attila, Papp Csaba
1st. Department of Obstetrics and Gynecology, Semmelweis University Medical School, Hungary.
Prenat Diagn. 2007 Nov;27(11):1028-32. doi: 10.1002/pd.1827.
The goal of the current publication is to review isolated central nervous system malformations (CSMs) using a database in excess of 75 000 cases, with special regard to the risk of recurrence of these malformations alone or in combination.
In the period between 1 January 1976 and 31 December 2005, among the 75 320 documented cases, consultations were requested due to earlier isolated CSMs in the patients' histories in 3030 cases (4.2%). Processing the data we only considered disorders of genetic origin, and that was why we excluded the cases due to intrauterine infection. Monogenically inherited malformations were also excluded from the analysis. The diagnosis of the malformations was based on the prenatal diagnosis of ultrasonography as well as the findings of the foetopathological examination.
In 65% of the cases, the couples sought counselling because of malformation in a previous pregnancy. In these cases, the risk of recurrence was thought to be 5.2%, while in the case of two affected children this figure stood at 21.9%. Analysing the values for the risk of recurrence in 5-year periods, neural tube defects (NTDs) (particularly anencephaly and spina bifida) showed a detectable decrease, which could be attributed to a growing use of folic acid supplementation around the time of conception and during pregnancy.
There is a clear decrease of risk of recurrence of NTDs, while in the case of the other CSMs in this study, there is no noteworthy chronological change in their risk of recurrence.
本出版物的目的是使用一个超过75000例病例的数据库，对孤立性中枢神经系统畸形（CSM）进行综述，特别关注这些畸形单独或合并出现时的复发风险。
在1976年1月1日至2005年12月31日期间，在75320例有记录的病例中，有3030例（4.2%）因患者既往有孤立性CSM病史而进行了咨询。在处理数据时，我们只考虑遗传起源的疾病，这就是我们排除宫内感染导致的病例的原因。单基因遗传畸形也被排除在分析之外。畸形的诊断基于超声产前诊断以及胎儿病理学检查结果。
在65%的病例中，夫妇因之前妊娠中的畸形而寻求咨询。在这些病例中，复发风险被认为是5.2%，而在有两个患病孩子的情况下，这一数字为21.9%。分析5年期间的复发风险值，神经管缺陷（NTDs）（特别是无脑儿和脊柱裂）显示出可检测到的下降，这可归因于在受孕时和怀孕期间叶酸补充剂使用的增加。
NTDs的复发风险明显降低，而在本研究中的其他CSM病例中，其复发风险没有明显的时间变化。
