CVS and other screenings

jandd2014

Hi ladies! I apologize if this is a repeat thread. I tried searching and didn't find anything in our group.
Have you thought about if you will do all the prenatal screenings yet?
My doctor mentioned them at my first appointment yesterday, but specifically said they do not recommend one way or another. I don't think DH or I have any family history of anything that we need to be worried about. 
What are you considering when making the decision to do the screening or not? I'm going back and forth about getting them done or not, because as DH said, what would we do with that information anyways?

ashcakes921

We didn't do them last time and probably won't this time. We didn't have any risk factors and didn't want to do any procedures that carried any risks. Even if super minor.

deeerfauxm

I didn't do a cvs with my S14 baby, but being AMA was able to do a non invasive free cell DNA test (mine was Verifi, just a blood draw) in addition to the other standard screenings. For me, having peace of mind that he didn't have any obvious health concerns was worth it, and if my son had had abnormalities flagged that could be monitored during pregnancy / help us prepare for complications at birth, I would've wanted to have my team ready. I live in a large medical community; if I did not and knew we'd likely need extra help at delivery, having that knowledge would affect where I'd deliver. 

Sugargirl1019

We are not doing any tests.
#1 My parents had it done, and they are not carriers for anything, so I am not.
#2 If we did do a test and it was positive, we wouldn't do anything. So if you have no plans to terminate, there's no reason to make yourself worry during the pregnancy.

Morgan400

Even if you would never terminate, I think there would be value in knowing. For me I think getting a 1st trimester screen will cause less stress during my preganacy. If it is clear I can worry about 1 less thing, but if it is not I have time the prepare and research. That being said I think there are several non invasive screens you can do now like a blood test or an NT scan. Then if something comes backed flagged you can do the CVS.

penelope4612

I agree with @Morgan400 - there is a lot of value to knowing that your child has a genetic issue even if you don't plan to terminate.  Some genetic issues can cause problems with the baby's development that may need to be addressed at or even prior to birth (for example, with Down's syndrome).  One would hope the ultrasounds would pick up on this but they don't always.  Also, there is a devastatingly sad thread on one of the trimester boards of a mother who had a late term stillbirth.  It turns out that her child has Trisomy 18 and they never picked it up on ultrasound.  If I had a higher than normal chance of a stillbirth, or there was a strong possibility that my child would pass away shortly after birth, that is definitely something I would want to know and prepare myself and my family for ahead of time.

DiFazette

Sugargirl1019 said:

We are not doing any tests.
#1 My parents had it done, and they are not carriers for anything, so I am not.
#2 If we did do a test and it was positive, we wouldn't do anything. So if you have no plans to terminate, there's no reason to make yourself worry during the pregnancy.

@Sugargirl1019 - I don't know much about genetic mutations, but I believe Your H's genes play a 50% role.  You are creating new DNA with him for this child.   I totally understand if you'd rather not do the testing, but it's not just a matter of whether your parents for the all clear, his ability to be a carrier/DNA can impact this stuff too, from what I understand.  Anyone with more knowledge feel free to chime in on that. 

I I recently read this that points to somewhat recent research that abnormalities/defects are contributed more by the father than ititally assumed:  https://www.nytimes.com/1991/01/01/science/research-on-birth-defects-shifts-to-flaws-in-sperm.html?pagewanted=all 

Don't mean to tell you how to live, but thought you might want to know this info to make an informed decision. 

Gizmo1231

@deeerfauxm I have a S14 baby!

we will probably do the quad screen at 20 weeks and that's it. 

DiFazette

I did not do the testing with DS.  I think we will this Pg, but it really depends on the OOP costs.  One of my close friends had a baby recently with Down Syndrome and there was no evidence in any of the scans/US.  They of course love her with all of their heart, but her first few weeks of life were filled with stress, confusion and hard to accept diagnosises.  She has a hole in her heart (common with DS) and will need multiple surgeries.  Being there for my friend has made me realize that I'd rather know and be informed on the risks, support options and endless therapy needs a special needs child will require in the first years.  

Sugargirl1019

@DiFazette I know Father's DNA has a big part. I think you're right about the 50%, and the sperm DNA quality may still have a bigger play in how cells divide.  Still, for me, I don't know that I would get any tests (but I've never had an undiagnosed stillbirth). DH's family doesn't have any known chromosomal abnormalities, and we don't feel at this time it is necessary to do tests. I know lots don't agree, but those are my thoughts and reasons why I am not getting tested. 

I may be influenced by my friend who had tests done and false positived for Down Syndrome - she spent her whole pregnancy wondering if she should actually terminate even though she wanted the baby. Baby girl was born perfectly healthy, thankfully. I don't want that kind of stress. I have enough every day!

DiFazette

Sugargirl1019 said:

@DiFazette I know Father's DNA has a big part. I think you're right about the 50%, and the sperm DNA quality may still have a bigger play in how cells divide.  Still, for me, I don't know that I would get any tests (but I've never had an undiagnosed stillbirth). DH's family doesn't have any known chromosomal abnormalities, and we don't feel at this time it is necessary to do tests. I know lots don't agree, but those are my thoughts and reasons why I am not getting tested. 

I may be influenced by my friend who had tests done and false positived for Down Syndrome - she spent her whole pregnancy wondering if she should actually terminate even though she wanted the baby. Baby girl was born perfectly healthy, thankfully. I don't want that kind of stress. I have enough every day!

I totally understand and support whatever makes sense to your family.  It can absolutely become a cause of unnecessary stress.  Just thought I'd share some recent reading in consideration of the conversation.  

cgss11

I've mentioned in other threads that I'm a Fragile X carrier, so my husbands genes don't matter for that. Basically, we have a 50% chance of a boy being affected. We know a girl will likely just be a carrier like myself. 

We're planning to do the non-invasive blood draw first, rather than cvs. I just am not comfortable with the risks. If baby is a boy, we will then have an amnio to check for fragile X. If baby is a girl, we'll just test her for her repeat numbers after birth. 

We just want to be informed and prepared. Early intervention is key, so the sooner we know, the sooner we can get things in place. 

juliehollz13

I got tricked yesterday into ordering the Panorama kit, it's 100 something dollars if your insurance won't cover it. And if I wind up not using it I can mail it back and not get charged, so i'll be asking my Dr. about it today because she has to sign the "permission slip" for me to use it. I'd like to do a non invasive test first before a CVS test, i'd only do the invasive tests if there is a good chance something is wrong. 

Jennys9

No testing for my baby.  I absolutely was not doing any the first time. I contemplated this time but am not for a few reasons: 1. I really liked what my OB said, there is no point doing the tests unless there is the possibility I would terminate a pregnancy, and he knows I would not.  2. Practically everything else can be determined through ultrasound later.  3. I have more than one friend who were given false positives of chromosomal disorders and spent the rest of their pregnancies stressed out.  4. The tests are expensive and I'm personally not wanting to pay or buy into that industry, particularly when the results aren't always accurate.

That said, it is a very personal decision and I don't think there is anything wrong with having the tests if you so choose.  However, they aren't required, you don't have to, and plenty of people do not do it.

Jennys9

Sugargirl1019 said:

@DiFazette I know Father's DNA has a big part. I think you're right about the 50%, and the sperm DNA quality may still have a bigger play in how cells divide.  Still, for me, I don't know that I would get any tests (but I've never had an undiagnosed stillbirth). DH's family doesn't have any known chromosomal abnormalities, and we don't feel at this time it is necessary to do tests. I know lots don't agree, but those are my thoughts and reasons why I am not getting tested. 

I may be influenced by my friend who had tests done and false positived for Down Syndrome - she spent her whole pregnancy wondering if she should actually terminate even though she wanted the baby. Baby girl was born perfectly healthy, thankfully. I don't want that kind of stress. I have enough every day!

My friend had a false positive for downs and because she contemplated termination, she wouldn't even look at her baby during their ultrasound for fear of getting attached and was miserable for some time.

Now me, I actually love downs kids.Of course I want a healthy baby, but there are a lot of misperceptions about children with downs.  I worked in special needs for some time and they are sweet, funny, and most of the time are higher functioning than the children with autism or emotional disorders.  Now, I realize not everyone is cut out to parent a child of special needs, but there are waiting lists a mile long of people hoping to adopt children with downs, because they are usually so joyful.  Regardless, they are still cute little cuddly babies to love and snuggle and sing to.
There are plenty of options post tests.
Downs aside, there are medical conditions the tests can detect.  Tests are typically the start of other decision making, more tests and questions, and it is important to be prepared for that.

penelope4612

My SIL initially didn't get any chromosomal testing and then her anatomy scan came back positive for a "marker for Down's".  That stressed her out a lot but she did not want to terminate.  Eventually she ended up getting the cell free DNA testing which confirmed a normal healthy pregnancy.  It think the likelihood of getting false positive results for something really depends upon what type of testing you're getting, but an ultrasound can cause anxiety just as much as any of the testing....

H4aPartyof5

I'm AMA, so provided one of the NIPT tests is covered by our insurance, I believe we will opt to take it.  We would only pursue further testing if it's indicated based off those results.  My mindset on prenatal screening tests is forewarned = forearmed.  

Gizmo1231

Jennys9 said:

Sugargirl1019 said:

@DiFazette I know Father's DNA has a big part. I think you're right about the 50%, and the sperm DNA quality may still have a bigger play in how cells divide.  Still, for me, I don't know that I would get any tests (but I've never had an undiagnosed stillbirth). DH's family doesn't have any known chromosomal abnormalities, and we don't feel at this time it is necessary to do tests. I know lots don't agree, but those are my thoughts and reasons why I am not getting tested. 

I may be influenced by my friend who had tests done and false positived for Down Syndrome - she spent her whole pregnancy wondering if she should actually terminate even though she wanted the baby. Baby girl was born perfectly healthy, thankfully. I don't want that kind of stress. I have enough every day!

My friend had a false positive for downs and because she contemplated termination, she wouldn't even look at her baby during their ultrasound for fear of getting attached and was miserable for some time.

Now me, I actually love downs kids.Of course I want a healthy baby, but there are a lot of misperceptions about children with downs.  I worked in special needs for some time and they are sweet, funny, and most of the time are higher functioning than the children with autism or emotional disorders.  Now, I realize not everyone is cut out to parent a child of special needs, but there are waiting lists a mile long of people hoping to adopt children with downs, because they are usually so joyful.  Regardless, they are still cute little cuddly babies to love and snuggle and sing to.
There are plenty of options post tests.
Downs aside, there are medical conditions the tests can detect.  Tests are typically the start of other decision making, more tests and questions, and it is important to be prepared for that.

Unfortunately this is the most stereotypical conception of what "having a child in with Downs" is. The reality is most babies diagnosed with Downs have some form of congenital heart disease (about 40%) which depending on the severity could lead to multiples surgeries right after birth or even death. Even then, 4-12% of Downs related births end in early death because of heart or gastrointestinal disease. 
The Individuals were are lucky to see today are babies who survived these odds but still have a long road before them and shouldn't be categorized like a group of dogs as "loving and cuddly". They are children who need specialized care and love, and grow into adults who will still need that specialized care and love. 

FiancB

It bothers me that people say it's pointless unless you'd terminate. You do you but I'd  want the time to come to terms with the situation and to educate myself rather than be totally overwhelmed at birth. And if there are people that would choose to do that, I don't think they should be made to feel like lesser people.

Plus like a PP said, these problems go far beyond mental disabilities. There are also other disorders that are much scarier than Down's. ETA: I'm not one that is scared by disabilities; I work with them regularly so I am just realistic. There are some disorders that are screened for that would only cause the baby an extremely short life with a lot of pain and I wouldn't hesitate to terminate in that case- so it doesn't suffer, not because I'm not prepared to commit to raising this baby or something like that. I've read stories about these kinds of cases and they're always heartbreaking and always the last thing the parent wants to do.

We'll do genetic testing and go from there if it flags anything. Besides, the more likely scenario is that instead of it flagging something and stressing me out, it's more likely that nothing will come up and I can stop stressing. 

Zygodactyl

I have no idea. I don't want to do CVS or amnio due to the risks, and since I'm not AMA, I doubt my insurance would cover cell-free DNA testing. We might opt for the cell-free anyway and pay it out of pocket, but all the birth defects in my family have been just that: Defects, nothing congenital, nothing that appeared on a screening or would appear on a screening. DH's side has a lot of depression/anxiety, but again, no history of anything that would show up. Really, it would just allow us to be prepared ahead of time. I'm not sure if knowing or not knowing would make my anxiety worse; I hate the unknown.

FiancB

Zygodactyl said:

I have no idea. I don't want to do CVS or amnio due to the risks, and since I'm not AMA, I doubt my insurance would cover cell-free DNA testing. 

I was told that if it isn't covered by insurance, I could get the trio carrier screen and the verifi test from Progenity for $100 done together, or $100 each separately. 

bakerstreetboys

I will be getting the Panorama test done at around 9 weeks.  It's non-invasive, and although it isn't covered, for us it's worth the cost. 
I'm 38, but would still probably have it done if I were 10 years younger.  I feel the same way some other posters do; I wouldn't terminate but would definitely want the time to do my research and be prepared if we were to have a child with a disability.  Bringing home a newborn is enough of a shock...I don't want to add another one. 

Zygodactyl

JessCL said:

I will be getting the Panorama test done at around 9 weeks.  It's non-invasive, and although it isn't covered, for us it's worth the cost. 
I'm 38, but would still probably have it done if I were 10 years younger.  I feel the same way some other posters do; I wouldn't terminate but would definitely want the time to do my research and be prepared if we were to have a child with a disability.  Bringing home a newborn is enough of a shock...I don't want to add another one. 

That's kind of how I feel. I'm a project manager by trade and I like to manage risks, expectations, etc. I want a plan in place if baby needs additional care.

CMarie9980

I am a carrier of a balanced translocation between 3 and 12. Just found out because I requested testing after my second miscarriage.  I am probably going to have the testing so I can know whether this child is a carrier also. I don't believe I will make it out of the first trimester if the translocation is unbalanced but just in case it did I would want to know. 

dmontgo

I would want to know, although I would prefer a non-invasive test. I'm not at risk for anything, and to my knowledge DH isn't either, but I think I would rather know so I can grieve and prepare as best I can for any challenges.

 I do want to keep in mind that sometimes doctors don't get it right, though. With my mom, they told her my brother would have DS, and this caused a lot of stress for my parents before he was born. He got here perfectly healthy...and now he's a genius.

On the other hand, my friend who had her son a few years ago was told there were no problems, only to find out when he was born that there were significant issues. 

So I want to be informed, but also cautious. I'm still a super n00b so I have more research to do.

mimi603107

We are going to do the NIPT since it's nonevasive. We've talked about it and we'd want to know if there was chromosomal abnormality just so we can research and be prepared after birth.
My 7 year old is Autistic and if there were any way to have known that while I was pregnant, I think things would have been easier in the sense that we could have done all the research and been more prepared and knowledgeable about the things we needed to do to get him the best help at a early age.