CF and Early Downs Syndrome Testing??

posted 3 years ago in Pregnancy
Post # 3
Member
1029 posts
Bumble bee
  • Wedding: January 2010

The testing is optional, but strongly encouraged by medical professionals. We did do the testing, not because it would have changed anything for us, but because forewarned is forearmed. If we had found out there was a genetic issue with our child we would have started doing research, building up a support network of other parents with similar children, etc.

Basically, the CF test was just part of a panel of bloodtests. The testing for Downs is both a blood panel and a nuchal translucency exam (ultrasound where they take some measurements).  It was nice to be able to see the baby and see that she was developing well, etc. For us that was important because we struggled to conceive and had suffered a prior miscarriage.

Good luck with whatever you decide!

 

Post # 4
Member
545 posts
Busy bee
  • Wedding: June 2013

@lazybee123:  We did not test for CF since our risk was low and we did opt to do the first trimester screening (blood test and ultrasound) for Down syndrome and the other trisomies. If we found out we were having a baby with DS, we would want to meet with a developmental pediatrician (someone who specializes in caring for children with disabilities) and a pediatric cardiologist (children with DS are at risk for heart issues). The other trisomies are generally not considered compatible with life so that would definitely change how we’d handle the rest of the pregnancy. 

We met with a genetic counselor before deciding to get the tests to talk about our health histories and family backgrounds. Because of my age, 28, I’m already considered in the low risk category for DS but the genetic counselor said plenty of young couples choose to get the testing done for the reasons I described above. I was happy to have the ultrasound to get a first look at our baby. The tech took measurements of the space behind the babies neck and the whole thing took about 15 minutes. We got our results (normal) from the genetic counselor about 5 days later. 

Post # 5
Member
6273 posts
Bee Keeper
  • Wedding: October 2013

testing wasn’t pushed on me, but i asked about it.  i am 32.

i am jewish and my brother has spina bifida.  i am not a carrier for tay-sachs so it doesn’t matter if DH is.

my gyn told me about the ashkenazi panel which tested for CF, tay-sachs, and about 31 other things.  i called the genetic counselor, she told me all the information i needed.

then i discussed it with DH and asked a couple recently pregnant friends what they did.

DH and I decided not to get it done.  TTC is stressful enough and we didn’t want any added stress, it wasn’t going to stop us from trying.

i know they test for all the gentic stuff around 12 weeks (i think) so i figured if something was really wrong,i could figure things out then.

 

Post # 6
Member
308 posts
Helper bee
  • Wedding: July 2013

We opted out of the NT scan and bloodwork, I am a worrier, and glad we didn’t do it.

Post # 7
Member
3718 posts
Sugar bee
  • Wedding: August 2013

We had it done because of my age – I’m 39. But I would have done it anyway for the same reasons as many PP. It would have given us information and we could seek of specialists and be prepared for when baby arrives. 

Do check with your insurance though – many won’t cover the testing unless you are over 35 Or you’ve had some other indicator of a possible problem. Out of pocket is around $800 I think. 

Post # 8
Member
2783 posts
Sugar bee

I got the testing because I would probably abort if I was given a 100% diagnosis and even if you don’t want to abort on diagnosis I think it’s good to know ahead of time so you can prepare and educate yourself.

Post # 9
Member
3119 posts
Sugar bee
  • Wedding: August 2012

We’re low risk and did the testing. I don’t think downs or CF would have changed anything but my test also looked for other trisomies that are much more severe and difficult to survive. If we had shown something, I would have had the time to prepare and gather up all the support I could. We’re in between the first and second parts of the testing, but so far all looks good, and it gives me a sense of comfort as I get into the second and third trimesters.

Post # 10
Member
261 posts
Helper bee
  • Wedding: April 2012

We didn’t do the Downs testing because that would apply only to the baby I was carryingand we would not abort.  Also,  I struggle with anxiety and I didn’t want to have something to worry about.

 

I did do the CF testing, as that might have changed our plans for conceiving future children.  Thankfully, I’m not a carrier, so DH didn’t have to get tested.

Post # 11
Member
227 posts
Helper bee
  • Wedding: September 2013

@lazybee123:  I was worried since the tests are never 100% that the results would cause me unnecessary worry. I would never abort and generally do better dealing with things in the moment (if I worry too much ahead of time I become overwhelmed and shut down and get nothing productive done). We have discussed several possible issues that could result and I am confident in our ability to handle it in the moment. It was a very personal choice for us, but I 100% understand why so many people feel better having it done. 

Post # 12
cherrypieBee
1059 posts
Bumble bee
  • Wedding: September 2008 - A tiny town just outside of Glacier National Park

CF is part of a blood test (genetic carrier screening) they’ll give both of you to see if you are carriers. Depending on your ethnicity, there is something like a 13-24% chance that each of you is a carrier of the gene. It’s rare that both people are, and even if you are both carriers, it just increases your kid’s chance of having the disease but doesn’t guarantee it. It does mean they can keep an eye out and do futher screening and tests in utero. I recommend the genetic carrier test because 4 out of 5 infants born with genetic disorders come from families with no history (asymptomatic carriers). It’s also neat data to know for future pregnancies!

Down’s syndrome can’t be screened for until you’re pregnant (IIRC). In that case, what they’ll do is look at the baby’s Nuchal Translucency (space at back of neck) at 12 weeks and draw your blood to measure certain protein and hormone levels. This assesses low/high risk. You can also have more expensive, more accurate blood tests run, which your insurance MAY cover, because you are older. Both are non-invasive tests but would require a CVS or amnio to confirm a positive diagnosis.  

Post # 13
cherrypieBee
1059 posts
Bumble bee
  • Wedding: September 2008 - A tiny town just outside of Glacier National Park

Oh, and the genetic carrier testing typically looks at like 80 different genetic conditions you could potentially carry. It’s pretty cool! Shouldn’t cost more than $99 out of pocket for most people. 

Post # 14
Member
260 posts
Helper bee

I got it done both times, and both times my chances were very low. It definitely gave me peace of mind. I hate suprises, and like to take every precaution, so that I can plan. 

Post # 15
Hostess
3787 posts
Honey bee
  • Wedding: June 2011

We are opting out. I’m low risk and I’ve seen two many people get flagged falsely and I believe the my worrying would probably cause more harm to the baby than necessary. It’s also not diagnostic. If something comes up in the 18 week scan, we’ll consider other diagnostic Testing. Seeing as how we would keep the baby on non fatal instances, I don’t think early testing is for us.

Post # 16
Member
9529 posts
Buzzing Beekeeper
  • Wedding: August 2013

The American College of Obstetrics and Gynecology recommends CF carrier testing for all caucasian couples and Down syndrome screening for all couples, regardless of age (this was updated from 35 to all ages in 2011). So these are official recommendations, which is why your OB is offering them. That being said you don’t have to do them. They just have to give you the option – you get to decide if you want to do them.

You say that knowing wouldn’t change anything and I have to disagree. Just because you wouldn’t end the pregnancy or do any in-utero treatments, doesn’t mean that it wouldn’t change anything. I’ve worked with many, many couples who found out at birth that their child had a serious diagnosis like Down syndrome. It is often quite devastating. Emotions are already high from the delivery and new baby and then you have to deal with this diagnosis and then you have to tell all the friends and family and find doctors and read up about the condition. It can be very overwhelming on new parents. On the other hand, I know couples who found out about their child’s diagnosis during the pregnancy. They were able to go through the grieving process associated with the diagnosis during the pregnancy. They told friends and family about the diagnosis. And then they were able to have their happy, joyful birth and birth announcements. It’s never easy, but from personal experience, it’s much easier on the parents who know during the pregnancy. 

That being said, there is the risk for maternal anxiety if parents are found to be CF carriers or the pregnancy is found to be at an increased risk for Down syndrome. So you have to balance out how much you would be freaked out if you got a false positive vs how beneficial it would be to know about a diagnosis during a pregnancy. And that’s a personal decision. What does your husband think?

Leave a comment


Sent weekly. You may unsubscribe at any time.

Find Amazing Vendors