Hamizah Mohd Yunos1, Andrew Green2. 1. Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland. hamizahyunos@yahoo.com. 2. Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland.
Abstract
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge. Four (13.7%) had cleft palate, three (10%) had neural tube defect, four (13.7%) with cardiac malformation, 15 (52%) experienced developmental delay including six (40%) with speech delay, 11 (38%) with limb defects, four (13.7%) reported with neurodevelopmental disorder and two (7%) had hypospadias. CONCLUSION: FVS is still seen in the Irish population even though the teratogenicity of the VPA has been known for over 32 years. It is very important to create public and professional awareness to prevent FVS whenever possible.
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge. Four (13.7%) had cleft palate, three (10%) had neural tube defect, four (13.7%) with cardiac malformation, 15 (52%) experienced developmental delay including six (40%) with speech delay, 11 (38%) with limb defects, four (13.7%) reported with neurodevelopmental disorder and two (7%) had hypospadias. CONCLUSION: FVS is still seen in the Irish population even though the teratogenicity of the VPA has been known for over 32 years. It is very important to create public and professional awareness to prevent FVS whenever possible.
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