遺伝カウンセリング
What are the considerations for pregnancy in Marfan syndrome? I get asked that question a lot when people come into clinic, like, what's the percentage of people that do prenatal diagnosis or maybe terminating a pregnancy with Marfan syndr…
What if my diagnosis is unclear? That's really challenging for patients because they want to know yes or no that they have it and sometimes as kids are growing older, their features are evolving that they might not have the scoliosis or cu…
What is the most important thing to do after receiving the diagnosis? After getting a diagnosis of Marfan syndrome, the most important things are to develop your healthcare team. マルファン症候群の診断を受けた後にすべきことは、自分専用の医…
What is the role of the genetic counselor? My name is Gretchen Oswald and I'm a genetic counselor at Johns Hopkins. I've been here for about nine years and I work in the connective tissue clinic. グレチャン・オズワルドと申します。ジョンズ…