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Mothering › Groups › February 2013 Due Date Club › Discussions › prenatal genetic screening - which, if any, tests are you considering?

prenatal genetic screening - which, if any, tests are you considering?

post #1 of 49
Thread Starter 

With DD I had the quad screen. I might get the materniT21...we'll see. I am a little older these days.

post #2 of 49

I'm undecided. I'll be 31 this week. I was surprised at how much more at risk I am for certain things than I was during my first pregnancy at 24!

post #3 of 49
I don't even know what tests are available, because I've always declined them in the past. But now I am pregnant after two losses, and I am currently on two different medications for debilitating back/sciatica pain (was dealing with it before pregnancy but has gotten worse in the past few weeks), so that makes me nervous. I really don't know what I'll do. I am 7 weeks tomorrow, so I am still waiting to see and hear a heartbeat.
post #4 of 49

I'm going in for the first trimester maternal serum test this Friday, which obviously means I'll be going in for another in the second trimester. It's just a blood test, so it really doesn't make any impact on the little bean and I'd like the piece of mind. If there are strong odds that it has a genetic disorder then I'll get the ultrasound to check for markers, but I wouldn't do the amnio test.


I'm only 26, so I'm not necessarily worried, but I really like numbers so I'm curious to know my odds.

post #5 of 49

I think I am doing what is called sequential integrated screening which includes nuchal translucency ultrasound, they measure the back of the fetus' neck ( screen for down syndrome and trisomy 18) Then they do 2 blood tests.  I am not going to do CVS or amnio because of the risk of miscarriage.  The us and blood tests pose no risk to the fetus.

post #6 of 49
We are getting the nuchal scan at 13 weeks. It measures the nuchal folds on the back of the babies' neck and the thickness helps determine the risks for Trisomy 13 and 18 as well as congenital heart defects. I'm not high risk in any of these departments, but after losing a child, I'd really like to know what we are dealing with. This scan is also coupled with a sample of my blood. The false positive rate is about 5%, which is relatively low. I've never had any tests done before other than the quad screen.
post #7 of 49
I don't think we are doing any tests at all. I talked with midwife today and it all seems ok for me to get the results from my last homebirth so she can have my blood type on file. I am debating the big us at 20 weeks, mostly because of cost but we may opt for a quick gender us at 15 weeks. Still going back and forth.
post #8 of 49

I will be doing the 20ish week anatomy scan and if that goes well, that is probably it.  last time, my 20 wk scan (which was scheduled at 17wks) was more of a level 1 quick sort of thing with my midwife's back up doctor and a horrible old u/s machine so i got another u/s at a private u/s place 32 weeks to check on things... I don't do any of the genetic testing it would just make me worry and i wouldn't do an amnio because of the risks .. I mainly do the ultrasound to be sure there isn't any obvious reason we shouldn't have a homebirth.

post #9 of 49

I decline the bloodwork. We will do the 20ish week anatomy scan for obvious reasons - like gender LOL - and also to check baby's position and placental position. I'm a VBAC so those last 2 are important. If this baby is like my previous 2, there will be more scans at 40 weeks + for BPP (my 2 other babies were both born at 41+6).


I decline because mostly, I don't like bloodwork that merely gives you a risk factor, and also, for something like Down's, I would not terminate. I honestly don't know what I would terminate for, so rather than freak myself out, I just skip it.

post #10 of 49

A couple of pieces of information for you ladies to consider.  Not meant to pressure anyone, just to inform.


I was 27 when I conceived my first baby.  My risk of having a child with Down syndrome was 1 in 1061.  The chances of false positives and miscarriage from genetic testing were higher than actually getting a positive, so I declined all testing, except the 20 week anatomy scan.  There were issues with his scan, which resulted in me going for a repeat.  No one told me that the items that came up were soft markers for Down syndrome.  When I received my son's diagnosis at birth, it was the most horrible, heart breaking thing I have ever experienced in my life.  I wouldn't wish it on anyone.  My goal was to have children before 30, because I didn't want ANY chance of having a child with a disability.  


However, we recovered, and I LOVE my son to the moon.  He is AMAZING.  Had I received his diagnosis early in my pregnancy, I probably would have terminated.  9 out of 10 women do.  Yes, you read that correctly - 90% of babies diagnosed with Down syndrome in the womb are terminated.  For every little guy like mine that you see, there are 9 you don't.


Regardless, I'll be having the MaterniT21 screen this time because my risk is now 1 in 100, and I'm scared of Trisomy 13 and 18 more than Trisomy 21.  I have no idea what I will do if it comes back positive.  That's a personal choice that I see both sides of.  However, I'm going into it MUCH more informed this time, and I want others to make informed decisions, too. :)

post #11 of 49
Thanks Akchicks. I know that saying you would have terminated if you had known is a hard thing to do, so I appreciate your honesty.

Im having this testing done because I feel like I need to be totally prepared for things not being perfect. I was all about thinking positively, and looking at statistics and thinking that something would never happen to me- until it did. Im not planning on doing an amnio unless these results come back with problems. I cant really seem to find any info on maternit21 screening. There website doesnt really outline what exactly it is that they are doing. Is it just a sample of blood? What are the typical outcomes? False positives?
post #12 of 49
Thread Starter 

I agree, Adaline'sMama. Knowing beforehand would be important to me. My DW is a special education teacher and she has a few students with spina bifida who got surgery in utero/immediately after birth. I'd want to make sure that I was giving birth in place that could support specific needs (as opposed to at home or a smaller birthing center).


From what I've read about the maternT21, it's a blood test. They extract fetal DNA from your blood and screen for fragments of chromosome 21. Supposedly the accuracy is close to 99%, since a mama without Down's Syndrome would have no fragments of 21 - the only way they would get into your blood is if they came from the fetus' DNA.


AKChix - 100% agree. Trisomy 13 and 18 are WAY more scary than trisomy 21. And thanks for your honesty. My DW works with the Deaf/HOH community. It's been thought-provoking to hear folks with disabilities talk about whose life is "worth living" and who gets to make decisions like that. I honestly don't know what I'd do with the results of a screening, but I think it's really important to hear different communities talk about their feelings about it.

post #13 of 49

I haven't decided yet.  I'm high risk to begin with and downs does run in my family.  One uncle and 3 cousins with downs.  Downs I could handle anything else... I'm not sure.  It's hard to think about isn't?

post #14 of 49
Originally Posted by Imakcerka View Post

I haven't decided yet.  I'm high risk to begin with and downs does run in my family.  One uncle and 3 cousins with downs.  Downs I could handle anything else... I'm not sure.  It's hard to think about isn't?

yep. And I totally agree. Downs I could deal with, but the chances of a child surviving are so low.
post #15 of 49

AKChix, like others have said, I appreciate your honesty and advice. I would personally continue a pregnancy if the baby had downs, but other things are scarier and I'm not sure that I would. My sister is a special ed teacher and my stepmom was a professor of learning disabilities education, so I've heard many stories/all sides of the outcomes of genetic defects.


I'm definitely having the scan at 20 wks. Still undecided about other tests, but am considering the MaterniT21.  

post #16 of 49

I agree with you all re: Down's Syndrome. When I was a home care nurse, I had many DS patients that I followed. They were the happiest, most-loving children I ever saw. I think it is important to know ahead of time - not necessarily to terminate the pregnancy, but just to be fully informed and prepared. AKChix0r- I'm so sorry that you found out so late. I admire your strength and your honesty. So sad to hear that 9 out of 10 DS pregnancies are terminated! 


Soooo...my OB is strongly recommending CVS testing. Being childless at 41, with a history of miscarriages, she feels that it is best. I was reading about it last night and was literally dry-heaving (although it doesn't take much to make me dry-heave these dayspuke.gif) I am absolutely terrified to have the procedure done. It's mega-invasive, although the risk of complications is relatively small. Thank God I live near Yale, so I would be having it done there, but still...


This pregnancy was completely unplanned and has really blind-sided my husband. He hasn't really warmed up to the idea at all. Had another U/S last night and my OB is 95% sure that we are having a boy. I thought my husband seeing his son "live" and moving sround on the U/S would help, but it didn't. I am trying not to stress, but it is so hard shake.gif

post #17 of 49

I declined all testing with my previous children and plan to decline all testing with this one as well.

post #18 of 49

What's the reason for some of you ladies declining testing? Are you low risk?

post #19 of 49

For me, I declined testing with the first two because the false positive rates were higher than my risk. I did have the 20 wk scans, though.

post #20 of 49
Originally Posted by Imakcerka View Post

What's the reason for some of you ladies declining testing? Are you low risk?

For me, I declined testing because I didn't want to be faced with the moral dilemma of abortion. And there was really no cause for concern anyway.

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