海外マルファン情報

米国マルファン症候群患者団体The Marfan Foundationからの情報を中心に、マルファン症候群や関連疾患についての海外情報を翻訳して発信します。

遺伝カウンセリング

大動脈基部の拡張がなければ、マルファン症候群ではないのか?

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 50:09-52:26 Q:My daughter aged 37 was clinically diagnosed with Marfan syndrome. The only geneticist she could find was a pediatric Marfan geneticist. She told my daughter, s…

遺伝カウンセラーの役割 ~こんな要望にもお答えしました~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 47:19-48:27 Alright, so if you're wondering what else your genetic counselor is able to help you with, my most important piece of advice is to just ask. Next slide. 遺伝子カ…

遺伝カウンセラーの役割 ~遺伝子カウンセラーを受診する前にすべきこと~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 44:47-47:17 Okay, so if you have yet to see a genetic counselor and you're wondering how you could best prepare to see one, here are my best pieces of advice. 遺伝子カウンセ…

遺伝カウンセラーの役割 ~遺伝カウンセラーが必要な理由~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 42:30-44:44 So that's we've been talking about all of this. If you found yourself wondering, you know, "Doctors could do genetic testing. Why should I even work with a geneti…

遺伝カウンセラーの役割 ~症例⑧ マルファン症候群の8歳男児 医療過疎地のケース~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 37:39-39:55 All right, so our last case of the day involves an 8-year-old boy, who is very recently diagnosed with Marfan syndrome. He and his family are from a very small ru…

遺伝カウンセラーの役割 ~症例⑦ マルファン症候群の17歳女子 着床前診断と出生前診断・出生後診断~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 35:57-37:39 So one of these options is called pre-implantation genetic diagnosis or PGD for short and this option is best for parents who wish to prevent passing their known …

遺伝カウンセラーの役割 ~症例⑦ マルファン症候群の17歳女子 両親の願い~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 34:06-35:56 So our last set of case examples. Here we'll cover how genetic counselors support their patient's emotional needs and psychosocial concerns. ご紹介する症例も残す…

遺伝カウンセラーの役割 ~症例⑥ 16歳男子 COL3A1遺伝子におけるVUS~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 29:43-34:04 So our next case, we have a 16-year-old boy, who is very tall, very slim. He has notably long fingers and toes and he also has a very mild curvature or scoliosis …

遺伝カウンセラーの役割 ~症例⑤ 15歳女子 FBN遺伝子におけるVUS~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 25:12-29:42 So for our next case, we have a 15 year old girl who has been followed by a cardiologist since birth after she was found to have a heart murmur. The heart murmur …

遺伝カウンセラーの役割 ~遺伝子検査からわかること~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 24:01-25:11 So the next very crucial role for many genetic counselors is the interpretation and disclosure of genetic testing results. 多くの遺伝カウンセラーの非常に重要な役…

遺伝カウンセラーの役割 ~症例④ 発達障害を伴う症例~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 22:22-23:57 All right. For our next case, we have a five-year-old little boy with aortic root dilation again and mitral valve prolapse. So he also has very loose joints, whic…

遺伝カウンセラーの役割 ~症例②・③ 検査対象とすべき遺伝子の違い~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 19:18-22:20 So now we'll move on to our next most common rule for genetic counselors. We've already covered this a little bit in the previous case example, but I want to disc…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(4)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 16:46-19:12 We talked about, when we discussed, cascade testing or follow-up testing for his relatives. So in this case, we recommended that both of his children as well as h…

遺伝カウンセラーの役割 ~優性遺伝~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 15:53-16:45 So now that we know that there's a genetic diagnosis, it's also very important to review the inheritance of that diagnosis. 遺伝性疾患ということになれば、遺伝につ…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(3)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 14:25-15:49 So now we're back with our family tree and as you see here, with the change in shading in the father, we've done genetic testing and he's tested positive for a mu…

遺伝カウンセラーの役割 ~遺伝子検査のメリットとデメリット~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 13:16-14:24 So once we've explained what genetic testing is, who should have the test done, the next important step in the discussion is to explain the benefits and limitatio…

遺伝カウンセラーの役割 ~遺伝子パネル検査~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 11:56-13:15 And another really important part of this process is explaining exactly what this testing panel does, which takes us back to a quick high school biology lesson in…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(2)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 10:37-11:56 All right so now that I've finished out drawing out the family tree for this family, what do I usually do next? The very first thing I usually do is review the fa…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(1)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 8:00-10:35 All right. Now into a real case example. So the patient we have for case one is a five year-old male, who was referred to our clinic by a pediatrician. His doctor …

遺伝カウンセラーの役割 ~家系図~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 6:06-7:59 So now we'll work our way down that list of genetic counseling roles by running through some specific case examples that help illustrate exactly how genetic counsel…

遺伝カウンセラーの役割 ~遺伝カウンセラーの仕事~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 3:20-6:05 So first to give you a little background on how genetic counselors fit into the medical team, so we're, we're healthcare professionals with a specialized education …

遺伝カウンセラーの役割 ~はじめに~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 2:00-3:18 Hi, everyone and thank you for joining us this evening. So as Susan mentioned, I work with the cardiovascular genetics team at Texas Children's Hospital, which incl…

遺伝子検査とマルファン症候群

はじめに マルファン症候群の遺伝のしくみ 遺伝子検査の方法 遺伝子検査が推奨されるケース マルファン症候群の遺伝子検査における制約 マルファン症候群の関連疾患 まとめ はじめに フィブリリン-1(FBN1)やその他の遺伝子の変異を調べる遺伝子検査は、マ…

単一遺伝子検査と多重遺伝子パネル検査の違いは?

Q: 単一遺伝子検査と多重遺伝子パネル検査の違いは何ですか? A: マルファン症候群の特徴の中には、他の結合組織疾患でもみられるものがあります。そのため、臨床評価のみで診断が確定しない場合には遺伝子検査(単一遺伝子検査、多重遺伝子パネル検査)を行…

子供がマルファンになったのは私のせいですか?

Did I do something to cause my child to have Marfan syndrome? So when parents come in and their child is the first person in the family to have Marfan syndrome, they start replaying in their head every drink they had, you know, what they d…

子供を治療に参加させるには?

How can a child participate in their treatment? The one thing that I think that parents should take into consideration is letting their child be an active participant in the session. ご両親が考えておくべきことは、積極的に子供を治療に関わら…

子供にマルファン症候群であることを伝えるべきか?

Should I tell my child that he or she has the Marfan syndrome? I'm surprised when a parent doesn't want to use the word Marfan syndrome. We've had some instances where parents come in and before they've prepped us that they don't use the w…

出産について

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…

診断が確定しない場合はどうするか?

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…

診断確定後にすべき最も重要なことは?

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…