Fetal Valproate syndrome

What is Fetal Valproate syndrome?

This rare disease is a condition that can develop when an unborn baby is exposed to valproic acid or sodium valproate in the first trimester. Sodium valproate is used in a common medication for epilepsy, migraine and bipolar disorder. Not all babies exposed are born affected by the syndrome, but exposure increases the risk.

Exposure to sodium valproate in utero increases the risk of an exposed fetus being born with congenital defects. These can include skull, facial and skeletal abnormalities.

What gene changes cause Fetal Valproate syndrome?

The syndrome is not caused by gene changes, it is caused by exposure to valproic acid or sodium valproate in the first trimester.

Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.

What are the main symptoms of Fetal Valproate syndrome?

The main symptoms of the syndrome include neural tube defects- the most common being spina bifida in which the bones of the spine do not close properly. Babies exposed to sodium valproate have a 20% higher chance of developing fetal valproate syndrome.

Other symptoms include heart defects and musculoskeletal abnormalities. Developmental delay and other behavioral disorders, such as ADD and Autism Spectrum Disorder are also linked to the syndrome.

Babies are also at risk for being born with a cleft lip and palate, a small head, underdeveloped nails, a club foot and softening of the windpipe.

How does someone get tested for Fetal Valproate syndrome?

The initial testing for Fetal Valproate syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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