Seeking Advice Regarding Possible Downs and Amnio

Hi S.. I have a little one with Downs so let me start there. My research shows the tests for Downs have many false positives. The abortion rate for potential Downs children is about 80% when the tests are only accurate, I think, 40-50% of the time.

As for Trisomy 18, my friend's daughter with Trisomy 18 just turned 18, finished high school this last year and is working towards obtaining a job. She volunteers at the church and is a wonderful young woman.

Now the realities of both - these kids will need help throughout adulthood. Depending on their functioning level, they can need some intenstive help. Then are those like Chris Burke, an actor with Down, that is leading a very "normal" life. Both syndromes have their potential for medical conditions that can be life threatening. Through their early years there are sicknesses that can be life threatening. Precautions will have to be taken with both and early intervention services must be followed to make sure they are developing to their best ability.

Those were the negatives. But let me tell you, I would not trade my child with Downs for anything. He brings so much joy and unbelievable source of pride to us. He is absolutely amazing. I wish I had a bumper sticker that says, "My child has more chromosomes than your child." Even though it's harder for him to learn things, his since of pride in himself when he accomplishes something it is palapable. You can see it wash over his entire body. I am crying as I'm writing this because he I can not express how special he is.

L.

S.,

Your decision about whether or not to have an amnio is so personal, but I understand your seeking advice/support. I will be 35 when my third child is born, so my own doctor has recomended all sorts of testing that was not offered with my first two. All I can tell you is what my own thinking is for my own situation. I just had my NT ultrasound on Thur, and although all looked fine, they suggested genetic counseling. My husband feels like we are "rolling the dice" this time around, and is worried that "something" will go wrong genetically. He wants to have all the testing we can have, but my feeling is that I don't really want it. When I was discussing an amnio with the doctor, we talked about the pros and cons. For me the only pro would be so that if anything were "wrong" then at birth we could be prepared medically and emotionally. My doctor admitted that most of her patients want amnios so that they could have the opiton of abortion. That is not something I would consider, so I am leaning for not having one. Especially because there is a risk, albeit small, of miscarrage. You have to ask yourself what benefit there will be for you in knowing (i.e.- being better prepared medically/emotionally) versus the potetial risk of an amnio. Do you feel knowing outweighs the small risk? And it may. I have a friend who recently opted no on an amnio at age 39 (2nd baby), and although all the screening came back "normal", their baby was born with Downs. It was a shock, and a bit overwhelming for the first few weeks. They were thrust into it completed unexpectedly, and it was a very difficult time, as it was alot to take in. There was extensive testing right away, with a lot of "worst case scenerios" thrown at them. I think if they had known before brith, they might have been better prepared for the whirlwind of those first few days. Their little boy ended up not having any of the physical defects associated with Downs (heart defects, etc.). He is 6 months old now, and is just as sweet as can be, and healthy. I hope this helps in some small way. You have a big decision to make, and I wish you peace in whatever you decide. Your little Hannah has an amazing Mommy, and I am sure whatever happens, you are not alone. God is with you. I will pray for you and your family to have peace and wisdom, and that when Hannah finally arrives there will be nothing but joy and blessing!

Wouldn't you love the child reguardless?

I had an amnio when I was pregnant due to my age, 37 at the time. There are risks but for me it was peace of mind. I just made sure I was really taken care of for a few days afterwards. They say it's okay to move around the next day but I waited an extra day. If the test does come back positive then I suppose the benefit is knowing and being preparred and educated. I really feel for you though. It must be very stressful for you. But try not to be stressed, that is not good for you or your baby. What you do with the information is completely your and your DH's choice and no one else's. Please let us know what happens. Many happy thoughts going your way!

Hi S.,

I really can not advise on the tough decision you have ahead of you. This is a very personal and life altering decision you and your husband need to make together.

I do think it is important to know though.

Our prayers are with you!

S. -

I'm so sorry for your worries. I'm 37 and expecting my first later this year, so I can relate to the genetic worries. My nuchal translucency test results were good, but when we were talking about doing the NT testing and the genetic counselors were talking to us about amnio, etc. my husband and I wrestled through how we felt about invasive testing, about having a child with a genetic disorder, etc. What we decided was this: we're not going to abort, no matter what genetic flaws our baby may have. Therefore, we're not going to do amnio or CVS because for us, we don't believe the benefit (removing the uncertainty for the parents) outweighs the risk to the baby. It was heartrending and awful to think through and struggle with these decisions, and we DIDN'T have any indications from U/S or the NT test that there might be something wrong, so my heart truly goes out to you for how hard this must be for you emotionally. What it really came down to for us was this: what will we do with the information from the test? Since, in our case, we wouldn't do anything beyond more research and emotional preparation, we decided that wasn't enough reason to do something that added a risk of miscarriage, a threat to our baby's life. What would YOU do with the information? If you'd abort, then that changes the picture enormously. If you would not abort, then maybe doing the research and talking things through with your doctors is enough, without knowing until you deliver what the final outcome is going to be. I asked my doctors whether there would be anything we could do to help or improve the situation, during the pregnancy or at the delivery, in the event of a chromosomal abnormality. They said no, so, for us, that was that.

Regardless of what you do, I think that what makes you a truly good parent is that you care, that you think through these decisions, and that you do what you ultimately feel is best. That may be different than what any other given mother chooses for her child, but it's the best you can do. And doing your best by your child makes you a wonderful, caring parent and a very good mother. Please don't let anyone make you feel guilty for whatever you and your husband decide. My prayers are with you and little Hannah.

Hi S.,

I very much agree with what Sarah G said. Just know there are many false positives. One other thing I would add is that when they do the amnio and the genetic testing as a result, they are not testing for EVERY genetic anomoly. I did not understand that at the time. I thought if you had an amnio, it would conclusively tell you if your child had a genetic disorder or not. That is not the case. The tests run are for the most common genetic anomolies, NOT all anomolies.

Good luck with your decision. I know that is a hard one.