Screening topic at doc appointment got me thinking...

[Orglethorp]

I had a checkup with my regular doctor today, and she said I'll be given the opportunity to do some basic screening at my next appointment in 4 weeks. I also have my first ultrasound in 2 weeks. (I'll be 10 weeks tomorrow based on LMP, but I'm probably only 9 due to having a 35 day cycle.)

The screening option will be a blood test to determine my odds of trisomy & spina bifida disorders.

I told OH about it when he got home and asked if he wants to do much screening. I've been trying to get an opinion out of him on screening and the possibility of finding things wrong with the baby, since we're coming up on the window to discover these things in a couple weeks now. He's never had a reason to research any of this, so he doesn't really have an opinion.

I'm 29, he'll be 28 later this year, so while we're not old enough to expect higher risks, we're also not the youngest first time parents. There's no history of serious birth defects in either family.

I asked him "would you be okay with [insert broad strokes issue here]" a couple times and it sounds like although he doesn't know much about potential birth defects, we're on the same page. We would not abort a Down's, SB or similarily disabled child, but we would consider it for something like severe microcephaly. We don't mind the thought of raising a disabled child who has a decent shot at living a good life. (Blind, deaf, Down's, autistic, missing a foot, etc. all fine.) On the other hand, if they're always going to have the mental capacity of an infant (severe microcephaly, etc.) we'd rather not. I feel a little horrible for admitting that, but we agree, and it's something we have to consider, right?

Anyone else letting their brains go crazy worrying about what'll be discovered in weeks 12-16?

 

[MindUtopia]

The tests that happen around 12 weeks are usually for the various trisomy disorders, so Down's and trisomy 18 and 13. Anything else they will see on ultrasound anyway (they'll also see signs of abnormalities related to trisomy as well but not til 20 weeks). We don't have it done. I didn't last time and won't this time. Mostly because it wouldn't really matter as we wouldn't choose a termination based on that and we're comfortable with that choice. But also they testing we have here just gives you a risk level (so you have a 1 in 200 chance that baby has Down's) and then you have to go on and do an amnio or CVS to confirm those results. I wouldn't choose to do those since they carry a risk of miscarriage and that's too much risk just on a 1 in 200 chance. I was just more comfortable not even going down that road. If you have access to the harmony test and you would definitely choose a termination based on that information then it's something I'd have done because they it would be telling you something you actually need to know to make a decision. I don't think it will tell you anything about spina bifida or microcephaly though as those are generally structural rather than genetic conditions (anyway you should be able to see that on ultrasound, though I wouldn't 100% trust even that, I know someone who was told baby had severe microcephaly and they should end the pregnancy, but baby was born perfectly healthy and all the scans were just wrong).

That said, my husband didn't really have an opinion about whether to do the tests either (and I imagine most don't) with our first. He just said, it's your body, so do whatever you feel comfortable with. I explained what I want to do and he agreed that made the most sense and now this time around he definitely doesn't want it either. So I would say just decide what you feel comfortable with and as long as doesn't fully oppose the idea just do that. If you do the tests and anything shows up then you can do your research and talk about it in detail then.

 

[amzliane]

I always have the screening done. This time I had harmony test done after my last 2 pregnancies being Trisomy 13. I had a miscarriage with the first and termination at 15 weeks with the 2nd (after a CVS to confirm as my risk was 1 in 5). My reasoning is I would always terminate trisomy 13 or 18 as the chances are baby would be lost during pregnancy, at birth or shortly after birth. None of these options I felt were fair on the baby, me or my exsisting children. If my baby had Down's syndrome I would want to know so I could be prepared before birth.
I always thought I would never be able to terminate a pregnancy, easy words to say until you are faced with the reality. All just my personal opinion though.
Good luck with your pregnancy whatever you decide xx

 

[Ragnhild]

Hi... a similar thread was posted some weeks ago.. See if you can find it. There were lots of helpful replies and discussion there.

 

[Orglethorp]

In this board? I just searched the threads all the way back to ones that haven't had a reply since February 26th and all I found was 2 separate threads where the OP was wondering if harmony/mother's bloodwork screening would reveal the baby's gender.

 

[Ragnhild]

Ya was in this board im quite sure. Sometimes the title is a bit strange but i remember the discussion was about different kinds of genetic testing.. Ill look again and see if i can find it.

 

[Feronia]

You're thinking of the IPS, offered between 11 and 13+6 and then 15-20. It screens for open neural tube defects, trisomy 21, trisomy 18, and trisomy 13 and gives you an odds ratio based on your age, the NT measurement, and the biochemical markers found in your blood. It's non-diagnostic, just a screen.

Ultimately, you have to decide what you would do with that information, and even if you wouldn't terminate, some people prefer to know their odds to know whether they should pursue diagnostic means and/or genetic counselling. It also may indicate checking more thoroughly for soft markers on the anatomy scan.

IPS does not tell you fetal sex, but the NIPT does (which is usually not offered to low-risk people for free). NIPT also is non-diagnostic but it's much more accurate.

 

[Dana_Scully]

Personally we refused all those tests. Even if something is wrong with baby I want to let nature run its course. I want to keep this baby in me as long as I can. Even if we only get a few minutes with baby it will have been worth it.

 

[Orglethorp]

See, my concern isn't as much having a child who won't live long (although I think that would be absolutely heart breaking, and a selfish part of me wouldn't want to name that child our selected first born names because we won't have that child forever) - I'm more concerned about the child that would live into adulthood, but would never be independent and wouldn't even be very self aware. The extreme cases of microcephaly, etc. I want to be a mother to a child who will grow up and find a place in the world, not a human-shaped goldfish. That may sound harsh, but again, I'm talking about the extreme cases. I wouldn't be able to handle parenting a child like that, and I don't think it's fair to ask someone else to raise it in my place.

 

[Scout]

I had the tests done back when pregnant with daughter. I was 46 (a surprise blessing!) and had odds of 1:11 for trisomy 13, 18 and 1:17 for Down Syndrome; all that based on age alone. I opted for the MaterniT21 blood test since, well, at the time it was the only free cell dna test available, and I didn't want to risk miscarriage with an invasive test such as the amnio or cvs. My OB wanted me to make a decision on what I'd do before the test was done bc after it's done you're so full of emotion it might be hard. So it's good that you're already making decisions that will be right for you and your family. For me, I knew I couldn't terminate (based on personal beliefs) no matter, but I wanted to be as prepared as one could be. Plus, I would want my doctors prepared as well just in case something needed to be done at birth or shortly after.

These tests are not 100% though, and neither are scans. There is a local new anchor here who was in her mid to late 20's as was her husband. Everything with the pregnancy seemed fine. Her daughter was born with Down Syndrome. She's now 5, cute as can be, and is doing well with signing to communicate. But her mom and dad had no idea the baby would have any issues at all. And it was her story that made me realize I'd want to know before hand, if possible. She said that when the baby was born, she didn't get to spend time just loving her newborn. Instead, she was scared and in search of any information she could get. She said it was stressful. She said that all her family and some close friends had gathered at the hospital for the birth, and afterwards it was awkward bc nobody knew what to say, the right thing to say, and she didn't want to talk to any of them anyway as needed time to grieve what she lost; the dreams she had for her daughter. She's also very clear in her blog that she wouldn't change a thing. Her daughter is perfect just the way she is and has brought so much to their lives, and she now has new dreams for her daughter. But I think I'd be the same as her if baby had something wrong, so I'd want to know beforehand if possible.

I had the MaterniT21 test right after getting my odds from the genetic counselor. It took 10 days to get the results. 10 days of unbelievable stress. I was in WalMart when I got the call with the results. My mom was with me and said when the phone rang and I looked at it (I knew who it was from caller id) that I turned white as a ghost. The results were good (typical chromosomes) and I burst out crying with relief right there in the chip aisle. Congratulations and best of luck to you.

 

[MummaBear16]

I had a son with sb last year.. severe sb. It won't be tested for with a blood test and we didn't know until 19 weeks at our anatomy scan (generally when it's picked up) and we had no family history of it.. You truly won't know your decision until you are in the particular situation with each situation being unique and sometimes more complicated than you'd realise. So there is a chance you will find out something serious at a routine scan, even if you decide not to have the 12 week screening. I, personally, will always want to know as much as I can to prepare, but it is a very personal choice.

Only you and your husband can decide if he doesn't mind, then it's completely up to you.

 

[Bumpontherun]

With my first two pregnancies when I was 28 and 29 we didn't have any screening other than the 20 week anomoly scan.

Husband and I are both doctors so fully understood what we were passing up on. Our rationalisation was that we would be given an odds ratio. Neither of us would have been willing to risk CVS or amnio because of the attendent risk of misscarriage therefore there was no point in taking the first step.

Things are very different now. I am 36 and we already have two daughters. I don't want them to end up having to care for a disabled sibling once we are no longer around to do it.

It's going to be tough because I've had two early miscarriages and we've been TTC for a year for this one but if this baby sticks we will have the 12 week ultrasound and bloods. If they are high risk then we will pay for the harmony test which will assess for trisomy 21, 13 and 18. It's more accurate and less risky than CVS or amnio. My feeling at the moment is that we wouldn't go ahead with the pregnancy in the case of any of these but we will see what happens. I don't believe I can fully know my own mind until I'm placed in that position. At the moment though my priority is my existing kids.