Family Planning and Pregnancy: US and Europe Perspectives
14:20-15:59
So changing gears and sort of talking about genetics and heritability. A bunch of people asked prior to the president the, this presentation, "what is the risk of me passing this on to my child?" So most of these conditions are autosomal dominant meaning that there's a 50 chance every time you have a child of passing this on to them. The most important thing if you want to do genetic testing either prior to the embryo or on the embryo during pregnancy or in the child you really want to know what the actual gene mutation or gene change is in this in the family of the affected person, so again that's really important.
ここからは、遺伝学と遺伝可能性についてお話をします。このウェビナーには遺伝リスクについての質問が多く寄せられました。マルファン関連疾患の大部分が常染色体顕性遺伝と呼ばれる遺伝形式です。常染色体顕性遺伝では、生まれるお子さん1人につき50%の確率で病気が遺伝します。遺伝子検査を行う場合に最も重要なことは、着床前診断であれ、出生前診断であれ、お子さんが生まれた後に行う場合であれ、病気をお持ちの方の家系でどのような遺伝子変異が現れているかを理解しておくということです。
And the ways that we can do testing during pregnancy is on the embryo if it's sort of made in a dish. We can take a biopsy of the embryo and then implants an unaffected embryos either into the pregnant person or we can put it into another person, which would be a gestational carrier, and then during pregnancy we can do testing in the first trimester where we under ultrasound guidance take a sample of the placenta and the, or in the second trimester we can do an amniocentesis and we use a needle under ultrasound guidance to take fluid which has cells from the baby.
着床前診断では、体外で受精させた胚を検査し、病気のリスクがない胚のみを母体あるいは代理母の体内に戻します。出生前診断では、妊娠第1期には、超音波を使いながら、胎盤の一部を採取する絨毛検査、妊娠第2期には、やはり超音波を使いながら、胎児の細胞が含まれる羊水を針を使って採取する羊水穿刺を行います。
With these tests during the pregnancy there's a small risk of loss, so with the chorionic villus sampling the risk of loss is about one in 300 and then in the second trimester the risk of loss of the pregnancy is about one in a thousand, and then testing can also be done on the baby after delivery and one of the other speakers is going to talk about that.
これらの検査には、小さいながらもリスクがあります。絨毛検査では300例に1例、羊水穿刺では1000例に1例ほど、流産のリスクがあります。遺伝子検査は出生後も可能ですが、それについては他の先生からお話があると思います。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
