Martínez-Frías M L
Estudio Colaborativo Español de Malformaciones Congénitas, INSALUD, Facultad de Medicina, Hospital Universitario San Carlos, Universidad Complutense de Madrid, Spain.
Am J Med Genet. 1990 Oct;37(2):277-82. doi: 10.1002/ajmg.1320370224.
The present study includes 28 patients prenatally exposed to valproic acid (VPA) monitored by the Spanish Collaborative Study of Congenital Malformations (ECEMC), from April 1976 to December 1988. Among the 28 cases, 15 (53.6%) were exposed only to VPA and 13 (46.4%) to VPA plus other anticonvulsant drugs. The clinical manifestations observed in those prenatally exposed only to VPA, are compared with the abnormalities observed in those with prenatal exposure to VPA plus other anticonvulsant drugs. To better define the spectrum of clinical manifestation of the prenatal exposure to VPA we used, besides our clinical observations and those from the literature, all available epidemiological data. We consider that a "valproate embryofetopathy (VPEF)" could exist, because different anomalies have been observed in children prenatally exposed to VPA in monotherapy. A facial phenotype of VPA exposure has been reported, and epidemiologic studies have shown an increased risk for congenital defects. However, from a review of published cases as well as those in the present study, it appears that the spectrum of VAE in monotherapy may not include oral clefts.
本研究纳入了1976年4月至1988年12月期间由西班牙先天性畸形协作研究（ECEMC）监测的28例产前暴露于丙戊酸（VPA）的患者。在这28例病例中，15例（53.6%）仅暴露于VPA，13例（46.4%）暴露于VPA加其他抗惊厥药物。将仅产前暴露于VPA的患者所观察到的临床表现，与产前暴露于VPA加其他抗惊厥药物的患者所观察到的异常情况进行比较。为了更好地界定产前暴露于VPA的临床表现谱，除了我们的临床观察结果和文献中的观察结果外，我们还使用了所有可用的流行病学数据。我们认为可能存在“丙戊酸盐胚胎病（VPEF）”，因为在接受单药治疗的产前暴露于VPA的儿童中观察到了不同的异常情况。已有报道称存在VPA暴露的面部表型，并且流行病学研究表明先天性缺陷的风险增加。然而，从对已发表病例以及本研究中的病例的回顾来看，单药治疗的VAE谱似乎不包括腭裂。
