Martínez-Frías M L, Félix Rodríguez V, Hernández Ramón F, Martín Bermejo M, López Soler J A, Ayala Garcés A, Bermejo Sánchez E, Rodríguez Pinilla E
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid.
An Esp Pediatr. 1996 Sep;45(3):276-80.
We present, from an epidemiological perspective, the analysis of syndromes which present neural tube defects (NTD). Although there are many epidemiological studies on NTD all over the world, most of them are on isolated NTD; that is, when the infant only has NTD as the only anomaly.
The methodology is based on the review of hospital records of infants with congenital anomalies. This permitted the analysis of the prevalence.
The results show that the frequency of syndromes with NTD is 27.5 time higher among stillborn infants than among liveborn infants. Nevertheless, there are not many syndromes in which the NTD are present more or less frequently. In fact, only 1.93% of the total cases with syndromes presented NTD, with the majority (43.4%) with genetic etiology. We also analyze the specific types of syndromes with NTD.
我们从流行病学角度对出现神经管缺陷（NTD）的综合征进行分析。尽管世界各地有许多关于NTD的流行病学研究，但其中大多数是针对孤立性NTD；也就是说，婴儿仅将NTD作为唯一异常情况。
该方法基于对先天性异常婴儿的医院记录进行回顾。这使得对患病率的分析成为可能。
结果显示，死产婴儿中伴有NTD的综合征发生率比活产婴儿高27.5倍。然而，NTD或多或少频繁出现的综合征并不多。实际上，在综合征总病例中，只有1.93%出现了NTD，其中大多数（43.4%）病因是遗传性的。我们还分析了伴有NTD的综合征的具体类型。
