Wiedemann Katharina, Stüber Tanja, Rehn Monika, Frieauff Eric
Neonatology, University Children's Hospital, Würzburg, Germany.
Obstetrics and Gynecology, University of Würzburg, Würzburg, Germany.
Z Geburtshilfe Neonatol. 2017 Oct;221(5):243-246. doi: 10.1055/s-0043-107619. Epub 2017 Oct 26.
Fetal exposition to valproate can lead to a cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report we describe 2 cases of fetal valproate syndrome. In the first case, the gravida had a valproate medication before and during pregnancy with additional folic acid. She delivered a male premature infant at 25+2 weeks of gestation due to preterm labor and rupture of the membranes. Physical examination showed even in the premature infant typical signs of fetal valproate syndrome with trigonocephaly, epicanthal folds, broad root of the nose, low-set ears, thin upper lip and anteverted nares. In the second case, the gravida was under antiepileptic therapy with valproate and lamotrigine before and during pregnancy without any prophylaxis with folic acid. Sonographic examination during pregnancy diagnosed a spina bifida, Chiari II malformation and clubfeet. A female newborn was delivered at 39+4 weeks of gestation. Besides the prenatally detected anomalies, facial dysmorphism including microcephaly, low-set ears, thin upper lip and shallow philtrum were seen after birth. Valproate, a widely used anticonvulsant medication, is known for its teratogenic effects. The risk of congenital anomalies is even higher in combination with other antiepileptic drugs. Therefore, the avoidance of valproate or at least supplementation with a high dose prophylactic folic acid before and during pregnancy is highly recommended for women with epilepsy.
胎儿接触丙戊酸盐可导致一系列面部畸形、先天性异常和神经发育迟缓。在本报告中,我们描述了2例胎儿丙戊酸盐综合征病例。第一例中,孕妇在妊娠前及妊娠期间服用丙戊酸盐并额外补充叶酸。她因早产和胎膜破裂于妊娠25+2周时分娩出一名男婴早产儿。体格检查显示,即使是早产儿也有胎儿丙戊酸盐综合征的典型体征,如三角头畸形、内眦赘皮、鼻根部宽阔、耳朵低位、上唇薄和鼻孔前倾。第二例中,孕妇在妊娠前及妊娠期间接受丙戊酸盐和拉莫三嗪的抗癫痫治疗,未进行任何叶酸预防。孕期超声检查诊断出脊柱裂、Chiari II型畸形和马蹄内翻足。一名女婴于妊娠39+4周时出生。除了产前检测到的异常外,出生后还发现了面部畸形,包括小头畸形、耳朵低位、上唇薄和人中浅。丙戊酸盐是一种广泛使用的抗惊厥药物,以其致畸作用而闻名。与其他抗癫痫药物联合使用时,先天性异常的风险更高。因此,强烈建议癫痫女性在妊娠前及妊娠期间避免使用丙戊酸盐或至少补充高剂量预防性叶酸。