Marfan Syndrome | Testing and Diagnosis

How is Marfan syndrome diagnosed?

There’s no single test to diagnose Marfan syndrome, and the condition can be especially hard to diagnose in children because most symptoms don’t appear until the child is a teenager or young adult. Usually, a child with suspected Marfan syndrome will be carefully monitored, so that any symptoms can be detected and treated as soon as possible.

Tests for Marfan syndrome can include:

Can prenatal testing detect Marfan syndrome?

If you have Marfan syndrome and you want to know whether your unborn baby also has the condition, you can have prenatal testing at about 10 to 12 weeks using chorionic villus sampling, which involves taking and examining a small sample of placenta from the womb.

Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking and examining a small sample of amniotic fluid (the fluid that surrounds the fetus in the womb).

While these tests can show if your child has the gene defect, they can’t indicate how severe the Marfan syndrome will be. The severity of Marfan syndrome in a parent also doesn’t predict how severe the syndrome will be in the child.