Our expert says:
Thanks for your question. I am sorry to hear that your daughter has Marfan’s syndrome.
Marfan’s syndrome is generally inherited as an autosomal dominant, in other words, if one parent has the condition then 50% of children will also be affected. However, about 25% of patients with Marfan’s syndrome do not have a family history of the condition, but have it as a result of a spontaneous mutation in a gene known as FBN-1. This presumably is how your child got the condition.
This also means that if neither parent is affected, as in your case, the chance of a second child having Marfan’s syndrome is very low, probably of the order of 1%. Unfortunately it is not possible to guarantee that a second child will not have the condition, but the chance is very low. If you badly want a second child I would first have yourselves checked, to make double sure neither of you have the condition, and then go ahead.
Pre-natal diagnosis is available overseas, but unfortunately not yet in South Africa. The test would involve taking a small sample of foetal tissue or amniotic fluid and then testing for the presence of the mutation in the FBN1 gene. However the test may soon be available in South Africa through private pathology services, such as Pathcare, and I have been told the cost will be about R18000.00.
You might like to contact the South African Marfan’s syndrome organization, SAMSO at www.marfan.org.za.
I hope things go well for you.
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