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 genetic condition on to their children. So, to kind of explain this process very simply, several of the mothers eggs are fertilized by the father's sperm in a laboratory and then the resulting embryos are tested to and evaluated to see if they carry the mutation.
1つ目の選択肢としては、着床前診断があります。着床前診断は、事前にわかっている遺伝性疾患が子どもに遺伝するのを防ぎたいと思っているご両親に最適な方法です。手短に説明すると、母親の卵子を父親の精子とを実験室で受精させ、できた受精卵に変異があるかどうかを調べる検査方法です。
So for conditions like Marfan syndrome we find that about 50% of the embryos will have the mutation and 50% will not and once the embryos are tested, only the embryos without the mutation will be implanted into the mother.
マルファン症候群のような遺伝性疾患では、50%の確率で受精卵に変異があります。検査の結果、変異がみられなかった受精卵のみが母親の体内に戻されます。
Again this type of testing can only be done when one of the parents has a genetically confirmed mutation, so having that genetic test for our patient was important if she would like to plan her family in this way in the future. On the next slide.
この種の検査を実施できるのは、ご両親のどちらか一方に遺伝学的に確認された変異がある場合に限られます。そのため、この患者さんが将来、子どもを持ちたいと考えるのであれば、遺伝子検査は重要になります。
So we have for parents who don't feel that pre-implantation genetic diagnosis is right for them. It's also possible to do prenatal testing while the mother is pregnant or have the baby tested immediately after birth so that we can confirm or rule out a genetic diagnosis right away.
着床前診断を望まないご両親であれば、妊娠中の出産前検査や、出生したばかりの新生児に行う出生後検査があり、遺伝性疾患を直ちに確認したり、除外したりできます。
These are really great options for parents who might worry less about passing a genetic condition on to their children as long as they can at least be made aware of the diagnosis as early as possible in order to prepare for that.
これらの検査は、なるべく早く病気に備えることができるのであれば、子どもに遺伝することを気にかけないご両親には非常に適した検査です。
After reviewing this information with my patient and her mom they were both really happy to hear that there were different options that would allow her to plan a family in a way that was really best suited to her and her needs.
このような情報を娘さんと母親に説明したところ、娘さんに適した方法で出産の計画を立てられる選択肢が他にあるということを本当に嬉しそうに聞いていらっしゃいました。
So she opted to have genetic testing that day and we were able to confirm her diagnosis of Marfan syndrome and identify her exact fibrillin mutation, which she can then use later on to plan her family in the future. Next slide.
来院した当日に娘さんは遺伝子検査を受け、マルファン症候群が確定し、フィブリリン遺伝子の正確な変異についても同定できました。彼女は将来、この情報を用いて出産の予定を立てることが可能になります。
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。
