genetics

Teo813 · May 2012

Hi Everyone - newbie here as far as posting goes, but I figure its time to jump in. My wife and I are just about ready to try our first round of IUI's (she will be carrying) - and last night we got ourselves worked up about all the things that could go wrong...which led us to wonder if there was any worth in her being screened for CF and SMA and all of the other testable genetic things that are out there (ok, not ALL).

The rational side of us knows that the odds are in our favor based on family history, and that using a donor means at least he has been screened, which is more than most strait couples do. But then there's the side of our brains saying, yes but if we can do anything to make sure future baby is health, shouldn't we do it?

Did anyone get screened for genetic carrier traits prior to conceiving? I know you can also be screened once your pregnant but then there is a much different mindset in decisions.

ClickerishReturns · May 2012

What would you do if you found out what your genes had to say is a fairly important consideration? Would you stop having a child?

Genes are not determinative in most cases. There might be probability, but that is different.

Take that as you will.

ssg73 · May 2012

I don't quite get what you mean by not being determinative but a probability. Yes it is just a probability but unlike screening for downs and other chromosomal abnormalities if you are a carrier of autosomal or sex linked traits you are looking at very different numbers 25% if the donor is also a carrier (for autosomal) and 50% regardless of donor genotype for sex linked. I believe the pp was referring to getting screened pre pregnancy which depending on the results might influence donor choice. My take on this is. If you have a family history of cf or other autosomal or sex linked recessive diseases I would get tested. Donors are screened for most of these traits but not all. We did not have a family history and I was not screened. If I did I would have been screened and that would have influenced our donor choice.

Our bank tested for the following

genetic testing for all donors:

Cystic Fibrosis
Chromosome Analysis (karyotype)
Hemoglobinopathies including sickle cell and thalassemia (for all donors joining the program as of 10/26/07)
Tay Sachs (for all donors joining the program as of 4/28/08)
Spinal Muscular Atrophy (for all new donors joining the program as of 12/10/08)

Additional genetic testing is performed depending on the ethnic background of donors (African-American, Jewish, Mediterranean):

Sickle Cell
Thalassemia (alpha and beta)
Canavan
Gaucher
Fanconi Anemia (Jewish)
Familial Dysautonomia (Jewish)
Niemann-Pick (Jewish)

ClickerishReturns · May 2012

In that, if you have a family history, it makes sense to check. But if not, it does not (your case being an example). I also feel like it depends what you're hoping to find--because some probabilities are not exactly causative such as in the case of potential links to mental illnesses.

Perhaps I read the OP wrong in that I felt like she was talking about the women getting tested despite having no family history, not the donor. If I am spending money to get donor sperm that has also received payment to be there, of course I would be getting testing!

maryoosa · May 2012

My RE mandates genetic testing before anything else. My insurance covered most of it. It was a standard battery of genetic tests.

Teo813 · May 2012

yes, i was talking about getting tested prior to insemination, even though there is no family history. we are using a donor from TSBC, which tests for most of those things, including CF, but not SMA, which i'm curious about why that is. I know the odds are in our favor, but its just one of those nagging obsessive thoughts in my mind, so i thought i'd see what anyone else has done.

the article in the NYT about sperm donors this week didnt help - even though I had heard of each of those completely random cases before.

Kershnic · May 2012

I don't really see the point of being tested yourself. What are you going to do differently if you're a carrier for something? The donor sperm is tested for what it's tested for, you have no further control other than to chose not to have a biological child.

tdmklm · May 2012

I wasn't tested. I asked our (known) donor to be screened for thalassemia since I have thalassemia trait. That's all I cared about.

Seagull2012 · May 2012

For all my IUIs last year i did no genetic testing but now that i'm gearing up for IVF my clinic strongly recommends it. Turns out i'm CF & CMV-. Good news is that most donors from sperm bank are CF- and SMA-. And you need + of both bio parents to come up with a higher possibility of a child with CF or SMA. Soooo like what many others said, check w/ your donor/sperm bank first. If he is negative then it doesn't matter if you are + (besides the fact then your child might be a carrier, but you can test him/her later!)

As far as the other testing, i can see both sides. no family history = *probably* no worries; but it doesn't hurt to check, you dont know what can pop up. And i think it's better to know that not, esp. when it comes to TTC.

I'm getting testing for Fragile X and other chromosomal issues, plus Thesslamia (sp), b/c i was diagnosed with DOR and am Mediterranean descent.

It's all a relatively easy & inexpensive in the grand scheme of TTCing, esp. if it eases your mind!

Seagull2012 · May 2012

oh i forgot to add you should get tested for CMV. if you are negative, you probably want a donor that is CMV- as well (it's about 50/50 that some are and some aren't). Even if you are + and he is - or vice versa, there is still an extremely low chance of the fetus contracting the virus but if you are going down the 'better safe than sorry route' i'd add that to your list. that influenced our donor choice the most since some we liked were CMV+ and i'm CMV-.

mrl02 · May 2012

I have some Jewish heritage and I am adopted (so I don't have a ton of history). So the midwives I worked with did advise having an Ashkenazi panel done that tests for being a carrier of certain conditions that occur at a higher rate in the Ashkenazi Jewish population. All came back fine and my insurance covered it. So it was nice to have the peace of mind.

I am also CMV- so only selected donors that were.

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