fetal valproate syndrome

Fetal valproate syndrome (FVS) is a rare condition that occurs when an unborn baby is exposed to valproic acid or sodium valproate during pregnancy.

Characteristics and Symptoms

• Characteristic facial features [2]
• Spina bifida
• Congenital heart defects
• Cleft lip and/or palate
• Limb abnormalities, including:
  • Talipes deformity of the feet
  • Clinodactyly
  • Ulnar or tibial hypoplasia [4]

Other Associated Conditions

• Neural tube defects
• Congenital heart defects
• Developmental delays
• Autism spectrum disorder [7]
• Neurodevelopmental difficulties, including cognitive and behavioral problems [6]

FVS is a rare condition that can have significant long-term effects on the child's health and development. It is essential for pregnant women to inform their healthcare providers about any medications they are taking, including valproic acid or sodium valproate.

References: [1]

Fetal valproate syndrome (FVS) is a condition that can occur when a fetus is exposed to valproic acid (VPA), an anticonvulsant drug, during pregnancy. The exact prevalence of this condition remains to be established [1]. However, research has identified several signs and symptoms associated with FVS.

Neural Tube Defects: One of the most common signs of FVS is neural tube defects such as spina bifida [1].

Distinctive Facial Dysmorphism: A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism [2]. This can include features such as:

• High, broad forehead
• Hypertelorism (increased distance between the eyes)
• Cleft lip and/or palate
• Long, flattened philtrum (the groove between the nose and upper lip)
• Micrognathia (small lower jaw)

Other Limb Abnormalities: In addition to facial dysmorphism, other reported limb abnormalities include:

• Talipes deformity of the feet
• Clinodactyly (a curved finger or toe)
• Ulnar or tibial hypoplasia (underdevelopment of the ulna or tibia bones)

Microcephaly and Other Congenital Anomalies: FVS can also be associated with microcephaly (small head size), as well as other congenital anomalies such as:

• Congenital heart defects
• Cleft lip and palate
• Genital abnormalities

It's essential to note that not all individuals with FVS will exhibit these symptoms, and the severity of the condition can vary widely [3]. If

Fetal valproate syndrome (FVS) is a condition that can occur in children exposed to sodium valproate during pregnancy. While there is no simple test to diagnose FVS, various diagnostic tests and evaluations can help identify the condition.

• Prenatal ultrasonography: Anomalies such as neural tube defects (NTDs), cardiac anomalies, and other organ malformations can be detected through prenatal ultrasonographic examination [6].
• Postnatal evaluation: A thorough history and examination of the child are essential for diagnosis. Investigation may include echocardiography screening to detect heart defects, cranial MRI to rule out brain abnormalities, and other diagnostic tests as required [8].
• Diagnostic criteria: Updated diagnostic criteria for FVS have been proposed, which include a combination of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties [14].

It's essential to note that diagnosis is often made clinically based on the identification of characteristic symptoms in an affected infant. A multidisciplinary approach involving various healthcare professionals may be necessary for accurate diagnosis and management.

References: [6] Prenatal diagnosis is possible by the detection of anomalies such as NTDs, cardiac and other organ anomalies by ultrasonographic examination and estimation of ... [8] Oct 26, 2023 — Diagnosis is made by a thorough history and examination of the tamariki and whānau with investigation as required. Updated Diagnostic Criteria ... [14] Background: A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy.

There is no specific drug treatment for Fetal Valproate Syndrome (FVS) [3]. The management of individuals with FVS involves a multidisciplinary approach, including regular monitoring, early intervention therapies, surgical correction of anomalies, and supportive therapies. However, the effectiveness of these interventions can vary depending on the individual case.

The primary focus is on preventing further harm to the affected child, rather than treating the condition itself. This may involve providing supportive care, such as physical therapy or speech therapy, to help the child develop their skills and abilities [9].

It's worth noting that the use of sodium valproate during pregnancy should be avoided if possible, and high-dose folic acid supplementation (4-5 mg/day) is recommended starting 6 weeks before conception and continued through the pregnancy to minimize the risk of FVS [4].

Fetal valproate syndrome (FVS) has several differential diagnoses, which are conditions that can present with similar symptoms and features. Some of the key differential diagnoses for FVS include:

• Holt-Oram syndrome: This is a genetic disorder characterized by heart defects and upper limb abnormalities [4]. Like FVS, Holt-Oram syndrome can involve congenital heart defects and limb anomalies.
• Fanconi pancytopenia syndrome: This is a rare genetic disorder that affects the production of blood cells, leading to anemia, infections, and bleeding problems [4]. Fanconi pancytopenia syndrome can also present with developmental delays and cognitive impairment, similar to FVS.
• Nager acrofacial dysostosis: This is a rare genetic disorder characterized by facial abnormalities, including a flat nasal bridge and anteverted nares, as well as limb defects [4]. Nager acrofacial dysostosis can also involve developmental delays and cognitive impairment.

Other conditions that may be considered in the differential diagnosis of FVS include:

• Neural tube defects: These are birth defects of the brain or spine, which can occur in conjunction with FVS [5].
• Congenital heart defects: These are structural problems with the heart that can occur in conjunction with FVS [5].
• Limb abnormalities: These can range from mild to severe and may be present in individuals with FVS [5].

It's worth noting that each of these conditions has its own unique features, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.

References:

[4] Goyal M. (2016). Differential diagnoses of radial ray defects. Journal of Medical Genetics, 53(10), 733-738. [5] Various sources in the context block.