(Closed) New Genetic Test Screens Would-Be Parents

posted 7 years ago in Babies
Post # 3
Member
825 posts
Busy bee
  • Wedding: July 2010

Thanks for the article…I’m wondering if there are steps you can take once you find out to avoid your child getting the disease. Otherwise, would it really stop parents from wanting to have children?

Post # 4
Member
332 posts
Helper bee
  • Wedding: February 2010

I just went to a class about Jewish genetic diseases and testing for them since my husband and I are both Jewish. They test for 18 of them now.

 @MacFaniam24: Tay Sachs is a common disease amongst Jews, and I got tested right when I found out that I was pregnant to see if I’m a carrier. (I’m not, thank god!) If our baby were to have Tay Sachs, they wouldn’t live longer then 4 years old, and they’d be suffering their whole life. Many people like to know if their child will have this disease or other diseases that pretty awful like this b/c then you have the option of terminating the pregnancy.

Post # 5
Member
536 posts
Busy bee
  • Wedding: September 2007

@MacFaniam24:  Pre-implantation genetic testing w/ IVF is an option. My cousin and her husband are currently going through this as they are both carriers for adrenal hyperplasia (which their older son has). It’s a rough road, but it’s pretty much the only way to ensure that the biological child of two carriers is unaffected.

Post # 6
Member
2829 posts
Sugar bee
  • Wedding: June 2011

thanks for the interesting link!

My cousins baby was found to have a genetic disorder in utero –due to their circumstances the doctor reccomended pre-term abortion. Though ‘cri du chat’ is usually random, I can imagine in hindsight they would have rather known beforehand through screening if possible.

Post # 7
Member
7975 posts
Bumble Beekeeper

pre-pregnancy screening seems to imply that a couple could take precautions against placing their future unborn children at risk – not just that they wouldn’t be able to have children, or raise their awareness of the risks, but I’m sure in at least some casess (and ideally increasingly more all the time), doctors could probably use invitro style technology to help those couples ensure that their kids are at the lowest possible risk, even though they’re carriers. 

Post # 8
Member
389 posts
Helper bee
  • Wedding: April 2010

Being in a situation similar to the couple in the article, (I’m a carrier for a syndrome that the medical field calls “incompatible with life”– most never make it to birth, 90% that somehow do die within the first year), I think the option to test both partners for genetic disease before marriage is great. I don’t think the idea is that it would stop couples from trying to have children. I think it gives them a better idea of what their options are.  It helps to know what you’re up against so you can plan accordingly, and since some options are crazy expensive (adoption, IVF + PGD), I can imagine that it would be nice to know if you have to start saving for that after saving for the wedding. 

@daydreamwanderer — right now, there is no in utero treatment option for genetic disease as far as I’m aware. i’m no professional, but I do try to stay up on the research in this. From what I’ve found, they’re not advanced enough at this point to “reprogram” the genetic material in the embryo while in the uterus. Once you’re pregnant, the only option when you find out the child you are carrying has a terrible genetic disease is to see the pregnancy through (perhaps you might have a shot at minimizing the effects through medication or in-utero surgery if you’re lucky) or— abort the pregnancy. Unless you were talking about IVF+ pre-implantation genetic diagnosis (PGD) like a PP mentioned. In which case, never mind. 🙂

Post # 9
Member
536 posts
Busy bee
  • Wedding: September 2007

@red_seattle:  I think it’s rare (and this is the only instance that I know of), but the condition that runs in my family DOES have something that you can do during the early weeks of pregnancy to potentially lessen some of the effects of the conditions. You have to start the drug therapy early in your first trimester (before week 6), before you’d know from a CVS or amnio whether the child is affected, so knowing if you’re both carriers is crucial for this. (http://www.ncbi.nlm.nih.gov/pubmed/10411085 if you’re interested)

Post # 10
Member
7975 posts
Bumble Beekeeper

@red_seattle: yes, I meant pre-conception, there may be steps that can be taken. Like, determining which eggs/sperm are high risk and not using those. 🙂

Post # 11
Member
553 posts
Busy bee
  • Wedding: December 2009

I think this test sounds really great. Our son has cystic fibrosis and neither of us had any idea that we were carriers. We obviously wouldn’t change a thing now that we have the child that we do but the time right after the diagnosis was devastating and I wouldn’t want anyone to have to endure that. Plus you can’t help but feel some guilt that somehow you gave this awful disease to your child. 

Now that we know we are carriers we would only have more children through IVF and PGD.

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