In recent years, the healthcare community has made significant strides in understanding the impacts of prenatal exposure to sodium valproate (VPA), particularly its association with Fetal Valproate Spectrum Disorder (FVSD). A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability has provided comprehensive guidelines on diagnosing and managing FVSD. This blog aims to help practitioners improve their skills by implementing the outcomes of this research or encouraging further investigation.
FVSD is characterized by a range of congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments. These effects can vary significantly, necessitating a multidisciplinary approach to care. Here are key takeaways and recommendations from the consensus statement that practitioners can integrate into their practice:
Diagnostic Criteria
- Confirmed exposure to VPA during pregnancy.
- No other recognizable diagnosis that would explain the phenotype.
- Normal microarray-CGH and Fragile X studies.
- Exclusion of other teratogenic disorders with clinical overlap, such as fetal alcohol syndrome.
Practitioners should be vigilant in identifying the characteristic facial dysmorphism associated with VPA exposure, including a flat philtrum, thin upper lip, and broad nasal root. A developmental and neuropsychological assessment is crucial in the diagnostic process, focusing on cognitive, speech, and motor development.
Management Recommendations
Given the multisystem involvement in FVSD, a coordinated, multidisciplinary model of care is essential. Here are some specific recommendations:
Preconception and Pregnancy
- Women taking VPA should receive preconception counseling and be advised to use effective contraception.
- Folic acid supplementation should begin 2-3 months before conception and continue until 12 weeks of pregnancy.
- Ultrasound scans should be performed at around 13 and 20 weeks to check for congenital anomalies.
Neonatal Period
- A thorough neonatal check should be performed, focusing on visualizing the palate, checking for limb defects, and noting any dysmorphic features.
- Arrange a renal ultrasound and a cardiac echocardiogram after birth.
- Encourage breastfeeding, as it has been shown to have no adverse effects on cognitive outcomes.
Childhood Surveillance
- Regular health checks should be carried out to monitor growth, development, hearing, and vision.
- Screen for autism spectrum disorder and social communication difficulties at 18 months.
- Neuropsychological assessments should be performed to tailor educational support and interventions.
Adolescent and Adult Care
- Ensure a smooth transition from pediatric to adult care, with coordinated efforts between health and social care service managers.
- Annual health checks should be conducted, focusing on weight, dietary advice, and any ongoing medical issues.
Practitioners are encouraged to stay updated with the latest research and guidelines to provide the best care for individuals with FVSD. Continuous professional development and collaboration with multidisciplinary teams are crucial in achieving optimal outcomes for affected individuals.
To read the original research paper, please follow this link: Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
