Genetic counseling: preconception, prenatal, perinatal

Published on June 29, 2022   42 min

Other Talks in the Category: Clinical Practice

0:00
Welcome to this Henry Stewart talk. The focus this time is on genetic counseling: pre-conception, prenatal and perinatal. My name is Aubrey Milunsky. I am the Founder and Director of the Center for Human Genetics in Cambridge, Massachusetts. Previously, I was a Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology and Pathology at Boston University School of Medicine. Now, I am at Tufts University School of Medicine as an adjunct Professor. This talk is focused on the issues of trying to avoid catastrophes that could otherwise have been prevented.
0:42
The first slide has to do with the issues that occupy genetic medicine. As you'll notice, this is a very important slide showing that there are more than 7000 rare genetic disorders that we know about. About 1 in 12 people worldwide on average are carriers of a genetic disorder. There are now known more than 4331 genes and their mutations with actual clinical phenotypes. You'll notice also in the next line that there are some 6739 clinical phenotypes. You might ask, why is that the case when there's only that number of genes? The obvious answer is that there are some genes that cause more than one single clinical appearance or phenotype. There are also more than 2000 congenital malformations syndromes, not all of which are simply genetic in the sense of being inherited or transmissible. Also, there are more than 1000 different carrier tests, mostly genetic carrier tests.
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Genetic counseling: preconception, prenatal, perinatal

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