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Genetics (Expert Forum)
Pregnant, dad has marfan syndrome
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Pregnant, dad has marfan syndrome
by jupitersmoons, Sep 06, 2007 08:43PM
Hi...I am 8 weeks pregnant and my child's father has Marfan syndrome. I know it is hereditary, except in his case it was a mutation. I was wondering if anyone knew what kind of a chance our baby has of getting it, and if we are going to have to see geneticists, or what we should expect as far as having a healthy pregnancy and baby. I know it is a rare disease, but I am really hoping there is someone out there that knows something about it, or can refer me to someone that can help...Thanks!
Jess
Jess
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 10, 2007 08:43AM
, Sep 10, 2007 08:43AM
Although Marfan syndrome is rare, there are definitely specialists who can help you and your family to learn more about Marfan syndrome. It may help you to see a medical geneticist who is familiar with Marfan syndrome, and also to meet with a genetic counselor to talk about what to expect during pregnancy and chances that your pregnancy has also inherited Marfan syndrome. When you mentioned that the baby’s father was “a mutation”, I am assuming what you meant was that he was the first in his family to be diagnosed with Marfan syndrome, and that he has Marfan syndrome as a result of a “new mutation”.
Marfan syndrome runs in families in an autosomal dominant manner. This means that someone with Marfan syndrome has 50% chance of passing this condition on to each child he or she has. Inheritance is not affected by gender. Given that your child’s father has Marfan syndrome, your pregnancy has a 50% chance of having Marfan syndrome, and a 50% chance of not having Marfan syndrome.
If you are interested in learning more about Marfan syndrome and the impact that this may have on your pregnancy, it would be best to meet with a medical geneticist and a genetic counselor. You can find a medical geneticist through the American College of Medical Genetics, and a genetic counselor can be located through the National Society of Genetic Counselor. Another good source of information about Marfan syndrome is the National Marfan Foundation (1-800-8-MARFAN ext 10).
Marfan syndrome runs in families in an autosomal dominant manner. This means that someone with Marfan syndrome has 50% chance of passing this condition on to each child he or she has. Inheritance is not affected by gender. Given that your child’s father has Marfan syndrome, your pregnancy has a 50% chance of having Marfan syndrome, and a 50% chance of not having Marfan syndrome.
If you are interested in learning more about Marfan syndrome and the impact that this may have on your pregnancy, it would be best to meet with a medical geneticist and a genetic counselor. You can find a medical geneticist through the American College of Medical Genetics, and a genetic counselor can be located through the National Society of Genetic Counselor. Another good source of information about Marfan syndrome is the National Marfan Foundation (1-800-8-MARFAN ext 10).
just to let you know, my baby is perfectly healthy and doing great. she is wonderful and shows no signs so far of anything. but it can also take up to 5 years to detect if your baby has it if you dont get testing done. my parents never knew I had it till I was 5 years of age cause i showed no signs of it. My eyes started to go bad and the eye doctor actually detected the possible marfans. but I was never positively diagnosed with it cause no testing was available then and i had only one sign of it, you have to have 3 signs to positively be diagnosed with it... unless you have testing done. and they still arent sure i have the actual Marfans itself. cause there are 3 mutations on themutated gene (FBRN1 gene) and marfans is just one of them... since I dont have but one sign of marfans its hard to say i have full blown marfans... i was never tested for it ether cause back then there was no genetic testing for it... I jsut recently in the past few months was tested and it came back positive for a mutation on the FBRN12 gene. i have boarder line Marfans, not full blown marfans. i currently go to the leading hospital in the country for marfans and that is Standford University.I live in the area. i am seeing the leading marfans specialist cardiologist for the decease in the nation I strongly recommend them, to anyone,.. I also see one of the worlds best high risk OB in the nation too at Standford and geneticist that deal with marfans. If you live in California or in the area I can give you numbers and such to get started!... Good luck with the baby and god bless!! I hope this helps and sorry to make this so long...