Proactive genetic testing

Re: Proactive genetic testing

• wdc*bride

  January 2012

  Oh, one other thing, I guess.  

  4.  For those of you who want to do testing, do you feel at all apprehensive about proactively asking for it because you might be judged?  

  I have this concern.  When the doctor was talking about the NT, she said "Some couples don't want to do this because it won't change anything, but some want to do it because even though it won't change anything, they want full information." She didn't mention the third option of couples for whom a serious question about whether to continue the pregnancy would arise with a genetic diagnosis.  That made me feel a bit odd, but I know I was already sensitive about being judged.  Unfortunately, after many conversations with my husband, I know that we would seriously consider terminating the pregnancy if we got a bad diagnosis.  I don't want a doctor that makes me feel worse about this than I already do.  

  (Really don't want to start a flame war here, as I know this is a sensitive topic, just curious what others are thinking.) 

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• Alauren4 member

  January 2012

  CVS isn't normally done unless something is found in the NT scan. These tests in my opinion aren't for everyone and are usually only done when your baby is of high risk for specific abnormality. I am high risk because I have an older son with special needs. The pamplet she gave you is probably just procedure. CVS can be an invasive test and can cause miscarriage, although the rate is low...

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• TrainMyDogg

  January 2012

  I had a full blood panel done around week 8. Turns out I am a carrier for CF, though DH is not. ( he was tested after mine came back positive.) we are doing the NT, for informational purposes only. We want to be as prepared as possible for any baby that we have. I am a special education teacher and see the struggles that some families endure... It is not a lifestyle that is for everyone. That said, my students are amazing young people who have so many gifts to offer and I wouldn't change them for anything in the world. I adore them. We personally have decided that we will not terminate regardless, but it is a very personal choice. Good luck with everything!

  
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• peeper72

  January 2012

  I am in the minority on this board as I am AMA (39) and have a higher statistical probability of having a genetic anomaly. With our first pregnancy we were aggressive about genetic testing (CVS, cystic fibrosis, fragile X, microarray). DH was a resident then at a third-tier academic facility, which means that he was seeing the rarest and most devastating fetal outcomes on a daily basis. He was pretty freaked out and needed the reassurance that definitive information brings. We are taking the same approach with this pregnancy and, in fact, had the CVS this morning. To answer your questions:

  1. No. If you think you want definitive information rather than odds then ask about CVS or amnio.

  2. See above. Very aggressive with diagnostics. I want definitive answers. The whole odds thing simply wasn't going to work for me.

  3. This time I had to see a midwife/nurse practitioner for my first visit. It's the first time I've ever seen anyone other than my Ob. She assumed I wanted the bloodwork and NT scan. I told her we would be skipping that and moving directly to CVS. I think she was surprised.

  4. Was this a question about being judged? My honest opinion? Do you really care about what some temporary person in your life thinks? Again, not popular, but we too would terminate a pregnancy that would otherwise likely have a poor outcome. In the scheme of trisomies and aneuploidies DS children are pretty functional. There are other genetic disorders that scare me much more. We have no family support and are about to move to a place where we know nobody. I am old enough to know my own limits. If a nurse or doctor wants to judge me, I don't care. They don't have to live my life.

  It's a very personal decision based on a large number of factors and circumstances. I wish you the best of luck.  

  

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• Kayte317

  January 2012

  I think PP said it well.  I have a blood clotting disorder that is pretty rare so my OB is testing me for EVERYTHING under the sun.  She said the only reason to do more than the NT scan was if any of the results came back bad.  None has.  I would only do an amnio or a CVS if anything came back bad.  They are higher risk and more invasive.  Unless you have a reason to do it, like advanced maternal age or some disorders that run in the family, it's not worth the risk to me.  Really, you have to do what you're okay with.  Who cares what other people think when it comes to the health of you and the baby.  Just my opinion.  Good luck!

  

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• calamityeyes

  January 2012

  One thing to consider with the CVS is that, to my understanding, it won't test for neural tube defects, which may be detected by amnio. 

  I had an NT, also I am of AMA.  We also have some family history to consider.  My sister sailed through her NT and bloods until a condition incompatible with life was detected at the anatomy US, very close to the point where termination would have been unavailable in her state.  Due to subsequent legal developments, the procedure safest for women and most likely to preserve fertility is now banned in many states - so-called "partial birth abortion."  I will not risk future fertility and I will not be placed in the position of having to make terrible decisons under a gun because people feel I'm not competent to make a decision about what is best for my, my family, and my fertility.

  In any event, the NT did not reduce my risk below that of my age, and I decided to go with amnio (which will happen in two weeks).  At 36 I'm 1:200 after the NT and for my age - the risk of miscarriage from amnio is far lower than that at my center, and I want the certainty.  People may quote a 1:200 figure for risk on amnio that is woefully out of date. 

  As you may have gathered, I will terminate if there is a condition incompatible with life.  I am likely to terminate if there is a severe disorder.  It is a very personal decision, that is the decision we came to (before we had any testing done whatsoever), and one we feverently hope we don't have to make.

  At my 6 week appointment, I received full information on the range of possible tests available throughout pregnancy - but my OB is a fertility specialist as well that very frequently deals with high risk pregnancies, AMA, and couples with fertility issues.  We are also in a major metropolitan area - I have heard that folks that live farther from such areas may not have the testing available, but that would clearly not be the case in D.C.

   Good luck with whatever you decide.

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• caralck member

  January 2012

  I knew I wanted the NT scan and sequential screening so at my first OB visit, I told him so he just said to schedule it  when at 12 wks on my way out.  I decided very good odds were good enough for me and so if the odds sucked, then we would do cvs if the odds were poor after the prelim results and amnio if anything concerning came up after the 2nd test or anatomy scan.  With how hard it was to get pregnant, I didn't want to do an invasive procedure if I didn't need to.

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