Scientists at UCLA (a fine institution) have identified one of the mutations which lead to Short-rib Polydactyly Syndrome. We haven't been able to access the actual article yet, as it will be published in the American Journal of Human Genetics in a few days, but we have read the news piece that UCLA released on the discovery.
The good news is that they will be able to identify SRPS earlier in pregnancy. Currently the process is to ultrasound around week 12 and count fingers and toes and measure the ribcage and limbs. Ten and ten is a good sign, but not definitive. With ten and ten you would schedule more ultrasounds and monitor the baby's growth, to make sure that the chest and limbs were progressing normally. Now that a genetic marker has been found they could offer us genetic testing that would give us a definitive answer by week 12.
The bad news is that the carrier rate appears to be much higher than we were told (1 in 300). However, this is still pretty rare if you think about what that means: Jeff is a carrier, I am a carrier, we each have a carrier parent, a carrier grandparent, and probably one carrier sibling each. That is eight carriers, which means 2,392 people get to not be carriers. If you add in the likelihood that we both also have carrier Aunts, Uncles, and cousins, it is possible (although not likely- you meet a lot of people over the course of your life) that the geneticist was right that we don't know anyone outside our family circles with this gene mutation.
The discovery they made is only one piece of the puzzle. They believe that their are multiple mutations involved in SRPS, so they will continue to search for those. I am thankful that we will have access to answers earlier in pregnancy, but this isn't a cure. It is just early notification.
We found out about this discovery when my mom happened to click on an article in Bruin link. I have to admit I was a little irritated that we found out that way, since I am fairly sure this was the research team we gave DNA samples to. In exchange for my genetic code I had hoped for a little information.
For those of you who are related to us: we don't know yet how much testing will cost. Because it is not common, the test might be expensive. We shall see. I will post information as soon as I find out more.
The good news is that they will be able to identify SRPS earlier in pregnancy. Currently the process is to ultrasound around week 12 and count fingers and toes and measure the ribcage and limbs. Ten and ten is a good sign, but not definitive. With ten and ten you would schedule more ultrasounds and monitor the baby's growth, to make sure that the chest and limbs were progressing normally. Now that a genetic marker has been found they could offer us genetic testing that would give us a definitive answer by week 12.
The bad news is that the carrier rate appears to be much higher than we were told (1 in 300). However, this is still pretty rare if you think about what that means: Jeff is a carrier, I am a carrier, we each have a carrier parent, a carrier grandparent, and probably one carrier sibling each. That is eight carriers, which means 2,392 people get to not be carriers. If you add in the likelihood that we both also have carrier Aunts, Uncles, and cousins, it is possible (although not likely- you meet a lot of people over the course of your life) that the geneticist was right that we don't know anyone outside our family circles with this gene mutation.
The discovery they made is only one piece of the puzzle. They believe that their are multiple mutations involved in SRPS, so they will continue to search for those. I am thankful that we will have access to answers earlier in pregnancy, but this isn't a cure. It is just early notification.
We found out about this discovery when my mom happened to click on an article in Bruin link. I have to admit I was a little irritated that we found out that way, since I am fairly sure this was the research team we gave DNA samples to. In exchange for my genetic code I had hoped for a little information.
For those of you who are related to us: we don't know yet how much testing will cost. Because it is not common, the test might be expensive. We shall see. I will post information as soon as I find out more.
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