Preimplantation Genetic Testing

00:00:03.933 --> 00:00:07.133 There are two types of genetic testing, and they get confused a lot, 00:00:07.200 --> 00:00:10.400 so it's good to talk about that. 00:00:10.600 --> 00:00:14.533 One is genetic testing that are done before embryo creations, 00:00:14.900 --> 00:00:19.567 and nowadays, we test for 200, 300, 400, 500 mutations. 00:00:19.633 --> 00:00:22.500 We wanted to take any type of genetic disease 00:00:22.567 --> 00:00:27.133 that could be potentially harmful to the baby or cause a disease. 00:00:27.300 --> 00:00:32.067 Now, the majority of those condition, both egg and sperm provider 00:00:32.133 --> 00:00:35.767 need to be positive for the baby to be affected. 00:00:35.833 --> 00:00:38.433 But nowadays, as we check more, 00:00:38.600 --> 00:00:40.967 we see that sometimes it's enough to have one condition 00:00:41.067 --> 00:00:42.574 that will pass to the baby. 00:00:42.667 --> 00:00:47.600 Genetic testing is the first layer of safety, 00:00:47.733 --> 00:00:50.800 and absolutely any couple trying to conceive, 00:00:50.867 --> 00:00:54.133 regardless if they come to us or not, should do genetic testing. 00:00:54.200 --> 00:00:57.333 In the past, we used to see families with a lot of cancer 00:00:57.400 --> 00:00:58.667 and didn't know what to do about it, 00:00:58.733 --> 00:01:00.700 and I'm like, "Oh, you're at increased risk." 00:01:00.767 --> 00:01:02.933 Nowadays, we can do cancer screening, 00:01:03.008 --> 00:01:07.033 not only for breast, but for other GI and pancreas. 00:01:07.700 --> 00:01:12.200 Any genetic mutation that we find that could be harmful 00:01:12.800 --> 00:01:16.000 can be prevented to move on to the next generation. 00:01:16.233 --> 00:01:18.814 That comes like, maybe you don't want it for yourself, 00:01:18.900 --> 00:01:20.867 but you definitely want to know it for your children, 00:01:20.933 --> 00:01:22.333 so very important. 00:01:22.400 --> 00:01:23.500 That's the first layer. 00:01:23.600 --> 00:01:27.400 The second is genetic testing on embryos, 00:01:27.467 --> 00:01:31.800 and that's like the PGT or PGTA, nowadays, PGTM. 00:01:32.333 --> 00:01:35.733 PGT, it's testing all chromosomes on the embryos 00:01:35.800 --> 00:01:39.067 and detect things like down syndrome or other chromosome issues 00:01:39.133 --> 00:01:42.333 that are some of the main cause of miscarriages, 00:01:42.400 --> 00:01:44.400 mental retardation, malformation. 00:01:44.867 --> 00:01:47.000 We also get to know the gender, but that's just a plus. 00:01:47.567 --> 00:01:50.367 The way the PGTA is done is throughout the IVF cycle, 00:01:50.433 --> 00:01:52.067 the first part is, of course, 00:01:52.467 --> 00:01:55.400 the woman or egg donor goes through the stimulation, 00:01:55.467 --> 00:01:58.900 takes about two weeks to retrieve the eggs, fertilize them. 00:01:59.000 --> 00:02:00.969 The embryos grows in the IVF lab 00:02:01.100 --> 00:02:03.967 until they reach a stage called blastocyst. 00:02:04.100 --> 00:02:06.633 Those are embryos that have 200, 300 cells. 00:02:06.700 --> 00:02:09.700 At that point, the embryologist very gently 00:02:09.800 --> 00:02:11.400 with laser actually, 00:02:11.533 --> 00:02:16.067 make a tiny opening in the outside shell of the embryo, 00:02:16.167 --> 00:02:19.300 and aspirate about 5-6 cells. 00:02:19.433 --> 00:02:21.300 The embryo get frozen, 00:02:21.367 --> 00:02:25.033 and those cells get sent for the genetic testing. 00:02:25.400 --> 00:02:27.533 Genetic testing nowadays is so advanced 00:02:27.600 --> 00:02:32.700 that they can detect very small changes in the DNA material, 00:02:32.767 --> 00:02:35.500 that in the past would have caused miscarriage or other issues, 00:02:35.567 --> 00:02:37.567 so at the end of this process, 00:02:37.667 --> 00:02:40.700 we get the result for each embryo, boy or girl. 00:02:40.767 --> 00:02:42.300 Is it a normal embryo? 00:02:42.433 --> 00:02:44.567 And if it's abnormal, what's the abnormality? 00:02:44.633 --> 00:02:48.133 A huge advantage of it is to allow us to choose a healthy embryo 00:02:48.233 --> 00:02:51.633 to transfer back, and increase our success rate. 00:02:52.100 --> 00:02:54.867 When it comes to genetic conditions, of course, things like 00:02:55.000 --> 00:02:58.967 any type of severe genetic disease like cystic fibrosis, 00:02:59.033 --> 00:03:04.933 or spinal muscle atrophy and others, you can prevent them altogether.