Fetal valproate syndrome

Alternate names

Valproic acid embryopathy; Susceptibility to valproate embryopathy; FVS; Fetal valproic acid syndrome

Definition

Fetal valproate syndrome (FVS) may occur if a developing baby is exposed to valproic acid during pregnancy.

Summary

• Valproic acid, also known as valproate, is a medication that is often used to treat epilepsy, bipolar disorder, and migraines. Many babies who are exposed to this medication during pregnancy are born healthy with normal growth and development.
• However, studies have found that women who take valproate during pregnancy have a greater chance of having a baby with a major birth defect or other health problem.
• The U.S. Food and Drug Administration (FDA) advises that valproate and related products should not be taken by women for the prevention of migraine headaches during pregancy. With regard to valproate use in pregnant women with epilepsy or bipolar disorder, valproate products should only be prescribed if other medications are not effective in treating the condition or are otherwise unacceptable.
• However, it is important to note that women who are pregnant and taking a valproate medication should not stop their medication but should talk to their doctor or other trusted medical professional immediately. S
• topping valproate treatment suddenly can cause serious and life-threatening medical problems to the woman or her baby. For example, the sudden discontinuation of valproate in pregnant women with seizures can result in persistent seizures, which can cause harm, including death, to the mother and/or the unborn baby.

Cause

• Fetal valproate syndrome (FVS) may be caused by exposure of a developing baby to valproic acid when a pregnant woman takes it during pregnancy.
• The risk for the baby to have one or more of the major birth defects associated with FVS is highest if exposure occurs during the first trimester, especially if the mother is taking doses greater than 800 mg/day.
• This is because the brain and spinal cord, heart, facial features, bones, muscles, and genitals all begin to develop in the first trimester.

Signs and symptoms

Many babies who are exposed to valproic acid during pregnancy are born healthy and do not have fetal valproate syndrome (FVS). However, studies have found that pregnant women who take valproic acid have a greater chance of having a baby with a major or minor birth defect. When present, the signs and symptoms of FVS can vary significantly from baby to baby. Symptoms may include:

• Characteristic facial features - such as a high, broad forehead; skin of the upper eyelid covering the inner corner of the eye (epicanthal folds); thin, arched, wide-spaced eyebrows; a small, upturned nose with a wide bridge; a long, shallow midline groove between upper lip and nose (philtrum); and a thick lower lip. These features may become less noticeable over time.
• Spina bifida or other birth defects of the brain, spine, or spinal cord (also called neural tube defects)
• Congenital heart defects
• Cleft lip and/or cleft palate
• Genital abnormalities - most commonly undescended testicles and/or the opening of the urethra forms on the underside of the penis (hypospadias) rather than the tip
• Skeletal abnormalities - most commonly overlapping, long fingers; abnormalities of the feet such as club foot; rib cage abnormalities; stiff or tight joints (joint contractures); and nail abnormalities
• Developmental delay, attention deficit disorder, learning disabilities, behavior problems, autism spectrum disorder, and/or communication problems

Diagnosis

• Fetal valproate syndrome (FVS) is often suspected in an infant who has one or more of the signs and symptoms associated with FVS and whose mother reports having taken valproic acid during the pregnancy.
• There is no test that can confirm the diagnosis of FVS, instead other possible causes of the signs and symptoms seen in the baby must be ruled out.

Treatment

The treatment of fetal valproate syndrome (FVS) is based on the signs and symptoms present in each baby or child. Management often involves a team of medical specialists and may include:

• Birth defects such as spina bifida and other neural tube defects, congenital heart defects, and cleft lip and/or cleft palate may require surgery shortly after birth
• Long-term follow-up to detect and treat early behavioral or developmental issues
• Early speech therapy, occupational therapy, and/or physical therapy
• Extra assistance at school

NIH genetic and rare disease info

• NIH info on Fetal valproate syndrome

Fetal valproate syndrome is a rare disease.

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