Fetal valproate syndrome (FVS)

What is it?

A rare congenital syndrome caused by exposure of the fetus to valproic acid (an anticonvulsant used to treat some types of seizures) during the first three months of pregnancy. The most common consequences of such exposure are the presence of spina bifida, congenital heart defects and facial dysmorphism. Valproic acid appears to be able to cross the placenta and act as a teratogen. The severity of the effects may be related to the dose taken. It should be remembered, however, that the mother's seizure alone is five times the overall risk of fetal malformation.

Causes and risk factors

Men and women can be affected in the same way. There are no precise data on the incidence and prevalence of this syndrome; however, it is believed that fetal valproate syndrome in various clinical manifestations affects approximately 14% of newborns exposed to the drug in the womb.

Which are the symptoms?

Children with fetal valproic acid exposure syndrome may have spina bifida, heart disease, or myelomeningocele. At the level of the face, the following are obvious: - epicanthus - a small nose with a flat root and an upward tip - a microstomy - a long and thin upper lip - the edge of the lip facing downwards - minor anomalies of the auricles. Occasionally, other abnormalities may be found, such as poor growth, neuromotor retardation, impaired fingernail and toenail development, hip dislocation, arachnodactyly, rectus abdominis diastasis, rib abnormalities, postaxial polydactyly, hypospadias, and behavioral abnormalities.

How is it diagnosed?

The diagnosis of the disease is exclusively clinical. However, the determining factor for diagnostic purposes remains the determination of the drug intake by the mother in the first three months of pregnancy.

Suggested exams

How is it treated?

Surgery can be helpful in correcting any malformations that may be present. Additional therapies are symptomatic and supportive.

Where do we treat it?

Within the San Donato Group, you can find Fetal valproate syndrome (FVS) specialists at these departments:

Are you interested in receiving the treatment?

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