Ania Shanmugham MS Genetics, explains the general facts about genetics
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Learn About Genetics – Overview Male: The very common question of people today, they get married and they had related risk, they would put of having a baby in their 35 and 36 years old and they came for some genetic advice. First they might go to a genetic concept. First, what would you tell them and what would you recommend that they should do. Female1: Well, where I work, we see a lot of patients for that indications, women who are 35 and older and well, basically what we will do is you know, of course take a family history just to make sure there is not anything else that we need to test for the pregnancy but we also talk about chromosome abnormalities that you will see more commonly in women who are 35. Why, we see the risk increases women get older and kind of talk about testing options that are available to them and they can do in the pregnancy to see if the risk of their having a baby with a chromosome problem. Male: If they were really concerned, what could they do during a pregnancy to alleviate some of the concerns and what would be recommended? Female1: There are a couple diagnostic testing that you can do to rule out a chromosome problem. You can do testing as early as 10 weeks in the pregnancy which is CVS or chorionic villi sampling which tests a little bit of the placenta or you can do an amniocentesis which a lot of people are more commonly familiar with which takes some of the fluids surrounding the baby. They can also check the cells for chromosome abnormalities. So you can get information pretty early in the pregnancy in terms of any chromosome abnormalities that maybe present. Male: So in other words, you can at least lay a little bit better and found that there is a greater or lesser risk but you can not see with the absence of certainty, you are not going to have a problem indicator. Female1: Well the amniocentesis or the CVS are limited in terms that they only check for chromosome abnormalities, unfortunately it would be great that we have to check for everything so we are not yet at the point for that but if the chromosomes come back normal from either test they are almost a 100% accurate. So these results are pretty definitive but their normal great news is very reassuring we tell them to continue with the pregnancies have their sonograms to monitor growth and development and go from there. Male: If for some reason, they have a kid borne with say Down syndrome, what would you tell them about their risk of getting a subsequent pregnancy? Female1: Well, a lot of the more recent studies they found that if the couple has had a previous pregnancy in your chart with the chromosome abnormality. The risk is for recurrence has doubled the women’s age related risk. So if the woman is you know 38 and had a baby with Down syndrome, it is about a 1% risk that we quote. So if she does have a baby or pregnancy that is affected, in the next pregnancy, you know, we would quote, she is still 38, we could say like a 1 in 50 chance or 2% in the subsequent pregnancy. Male: Is there a greater risk? Why not that the—on the older mother, what about the younger mother? Is there any risk with a younger mother having this chromosomes? Female1: For chromosome abnormalities, because it is just an error that just happens spontaneously, it is mistaken when they got the sperm and that any women is at risk for a chromosome abnormality but with tendency that risk increases women are older because, you know, they are born with older eggs was women get older their eggs also get older, so that risk is there. We actually find that women under 35 are definitely at risk and it is interesting because they do not routinely get offer a diagnostic testing because they are not on the age related risk. So a lot of times you see in terms of the incidence of Down syndrome or chromosome abnormality tends to be higher in terms of live births for women under 35 because they were never offered testing in their pregnancy. Male: Alright, you probably got

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