遺伝カウンセリング
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
ACC Aortic Disease Guidelines: Pregnancy 0:00-4:02 Hello, my name is Julie De Backer. I am a cardiologist and clinical geneticist working at the Ghent University Hospital in Belgium and it is my pleasure to present to you today the topic o…
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…
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…
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…
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…
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…
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 …
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…
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 …
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 …
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…
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…
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…
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…
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…
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…
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…
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…
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…
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 …
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…
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 …
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…
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…
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…
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…
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…
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…
