World Down Syndrome Day: Understanding Trisomy 21
The PedsDocTalk Podcast: Child Health, Development & Parenting—From a Pediatrician Mom
Dr. Mona Amin
4.9 • 1.5K Ratings
🗓️ 24 March 2021
⏱️ 20 minutes
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| 0:00.0 | You were listening to episode 57 celebrating World Down Syndrome Day, understanding Trissome 21. Welcome to this episode. I am now welcoming Dr. Segal Lala who is a geneticist and we're |
| 0:21.8 | going to be talking more about the data and more about the |
| 0:25.4 | management of children with Trissomey 21. So thank you so much for joining me |
| 0:29.4 | Dr. Lala. Thanks for having me. This is so exciting and so nice to be able to talk to you today about something that I see really commonly. |
| 0:38.0 | Thank you so much. I'm so happy we were able to connect through Instagram and Sajel is actually on |
| 0:44.0 | Instagram at Lala Genetics. She is going to be building that platform and using this as a |
| 0:49.2 | way of hopefully building that more, but we're just so excited to have her and |
| 0:52.3 | share her expertise. |
| 0:53.7 | So tell me more about what you do as a geneticist. |
| 0:56.7 | Yeah, of course and that's a very good question because not many people know even when they're |
| 1:02.0 | in my office. |
| 1:03.0 | So geneticists do pretty much anything. |
| 1:06.5 | They're kind of like abnormal physicians, |
| 1:09.8 | like they're abnormal pediatricians, |
| 1:11.6 | they're abnormal maternal medicine specialists, anything that deviates |
| 1:16.0 | from expected development or expected progression of milestones or expected anything that doesn't go as we expect that it would and you know and the |
| 1:35.8 | testing is just getting better and more intricate and you know we are just able to obtain so much information from doing genetic |
| 1:47.1 | testing that it is valuable in so many individuals. |
| 1:53.0 | Well, I want to have you back on again to talk about genetic testing. |
| 1:58.0 | I'm sure we can talk about that in so much detail because yes, I have families who want genetic testing when maybe it's not |
| 2:04.3 | warranted and then obviously sometimes it is warranted so I think a whole episode |
| 2:08.7 | in the future about when genetic testing may be warranted or maybe a visit to geneticist may be warranted would be a really good topic. |
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