- Pregnancy
- Baby & Toddler
- Parents
- Getting Pregnant
- Baby Names
- Product Reviews
-
Registry
- Community
-
More
Want a personalized experience?
Download the free app
May 2011 Moms
bryanandkatrina
member
Will you do the optional genetic screenings?
bryanandkatrina
member
Had my first "official" prenatal appointment yesterday, it was just a meeting with the nurse and she gave me a boat load of info.
One thing we talked about (and I had been thinking about prior to getting pg) are the optional genetic screenings - 1st Trimester NT Screening, 2nd Trimester AFP+ Quad Screening, and the Cystic Fibrosis test.
I know there are a thousand different ways to look at this (i.e. does insurance cover it, if not can we afford it, would we want to know if there was something wrong, would that change anything, etc.), but this is more so just to get an idea of what you ladies are thinking.
- does your insurance cover the optional genetic screenings?
- if so, do you plan to take advantage and have them done?
- if not, do you plan to pay out of pocket to have them done?
- if you don't mind sharing, what is the reasoning behind your decision?
ETA: Clarification - 1st Trimester Screening = NT Scan
* PAL/PgAL Bumpie & NBC-Twi Nestie *
Bloggity Blog
BFP #1 in 2001 ? natural m/c @ 9w4d
? TTC our first since 2009 ?
BFP #2 on 8/25/2010 ? natural M/C @ 7w6d on 9/25/2010
Clomid cycle #1 @ 50mg = BFP #3 on 1/1/11 ~ EDD 9/14/2011!!!
Bloggity Blog
BFP #1 in 2001 ? natural m/c @ 9w4d
? TTC our first since 2009 ?
BFP #2 on 8/25/2010 ? natural M/C @ 7w6d on 9/25/2010
Clomid cycle #1 @ 50mg = BFP #3 on 1/1/11 ~ EDD 9/14/2011!!!
This discussion has been closed.
Re: Will you do the optional genetic screenings?
Missed m/c 11.09 | Missed m/c 3.10 | We miss you & love you so.
~ ~ ~
Formerly toddandjulie
I don't know what my insurance will cover this time. Last time it covered the quad screen but not the NT scan, so that is what we did. I will talk to my doctor and see what is covered this time and decide from there.
The quad screen has a fairly high false "positive" rate, necessitating further testing:
Out of 1,000 pregnant women, approximately 50 will have quad marker screen results that indicate an increased risk for having a baby with a birth defect. Of those 50 women, only one or two will actually have a baby with an open neural tube defect. About 40 women will have quad marker screen results that show an increased risk for having a baby with Down syndrome and one or two will actually have a baby with Down syndrome.
https://www.webmd.com/baby/guide/quad-marker-screen?page=2
We will have the NT scan again. It checks for far more than Trisomy (18/16/21/etc.). I have a family history of anencephaly (baby had no brain) and my DH has a second cousin with Down Syndrome (T21).
It doesn't necessarily mean we would terminate, I just like to be prepared. Two girls I was on the tri boards with first time around had babies with T21 the second time around. One knew ahead of time, one did not. They both love their babies but I can't imagine not knowing.
My insurance does cover it, because of family history.
There are no false positives from prenatal testing. There are elevated risks. People don't terminate based solely on a Quad screen or NT scans. They go for more testing which leads to amnio/cvs/other testing.
I assume you also won't be doing any ultrasounds? Those are also prenatal diagnostic tools that don't have a 100% accuracy rate.
Missed m/c 10/25/10 @ 11.5 weeks
If a quad screen or NT scan indicates something might be wrong, an amniocentesis is done. An amnio is over 99% accurate because it looks at the actual chromosomes from the baby's cells.
If it shows three of a certain chromosome, the diagnosis is certain. Unless you are hallucinating an extra chromosome, I find it hard to imagine a false positive for trisomy.
So I doubt that "plenty of healthy babies are killed needlessly." That sounds like pro-life propaganda.
Also, you do know that they look for genetic markers during your big ultrasound, right?
I am not going to find out or take the tests, my other half doesn't have a say in this matter. I am a worry wart and if I did the testing and it came back with concerns I would just worry myself to death. None of us need that.
As there isn't a history of problems in either of our sides, I guess that calms me down too.
I don't think any one can be prepared for a child with disabilites, as every child and disabilites is so different.
Good luck with your discision!
I have a high deductible insurance policy right now, so I'm essentially paying for any testing out of pocket.
I got the impression from my midwife that she doesn't see the need to have the NT scan, but she said it was available if I want it. I have to read up more about it, but as of right now we're leaning towards skipping it.
I don't think I'll be doing any testing but then again, I have no clue what any of them are. ( I know I know, I need to read up on them)
My older brother has severe MR but it's not genetic so I'm not really worried. It was a mistake on the Dr's, which could have caused a HUGE lawsuit but my parents were too heartbroken to do anything about it.
Yes, I would want to know but then again I wouldn't. My parents didn't know until my brother was around 2 years old. It was REALLY hard for them to digest.
But then again, my very close friend is pregnant right now and they think her baby has a Wilms Tumor and won't know for sure until she's born. My friend is devistated and terrified, which cannot be good for the baby. So, I don't know if finding out is the better of the 2 options.
That tumor is more than likely something that was found at a regular anatomy ultrasound, NOT any of the earlier screenings.
We will do all available screenings, even if we have to pay out of pocket. It annoys me to no end when people say they don't want to do screenings because it doesn't matter whether they'll keep the baby or not. That is not the only reason screenings are done. If my child is going to have a potential health issue at birth, I want to be sure I am in the appropriate surroundings when he/she is born. A friend of mine had the screening and found out her daughter had a heart defect. She delivered in a hospital with a pediatric cardiologist, who saved her daughter's life with an immediate surgery after birth. If she had delivered at her regular hospital, this most likely wouldn't have been the case.
Genetic screening does not = abortion decision.
wow this is quite a heated discussion, I see people getting fiesty:) I suppose I am in a bit of a different situation My DH and I both have an eye condition that is pretty severe. In my case it has been diagnosed as genetic but in his case it has been diagnosed as caused by his mother having Measles during pregnancy. IT means we are both legally blind ( I have enough vision to read etc..my DH uses a cane and reads Braille but has a little bit of usable vision) We have known from the start that we have a 1 in 4 chance of having a baby who is blind. I must admit now that it is real and inside me I worry a little because I want the best of EVERYTHING for this baby. On the other hand I know my life has been FULL, AMAZING and PASSIONATE. I have had opportunities that most people haven't, I am educated and blessed in so many ways. The only reason I would worry about genetic testing is because I think it would make me begin to think the worst...With that being said we will have an extra U/S done to measure eye size. If my baby is going to be blind I want to make sure that I have all services set up the day he/she is born. That is my only concern. A woman once asked my mother in a grocery store why she didn't just have an abortion, I remember I was about five, this memory has had a profound impact upon me, it has made me realize I don't ever want to judge another person's quality of life.
Please don't think I am judging ANYONE. I think this is a very personal and individual decision, it is just my opinion
Wow, that's truly horrible.
Would you be able to catch potential genetic issues at the 20 week ultrasound? Or is the only way through the NT-scan and subsequent early testing (amnio, etc.)?
ETA... that second comment was to the group. Not only to Soontobemrspaulding.
Yes, it was. I was just saying, I don't know if it's better to know or not to know until the baby is born because she's worrying so much, it can't be good for the baby.
I'm going to get on my soap box here re: cystic fibrosis screening.
It's important. I didn't have any family history. I'm a carrier. DH's family had no family history - and he has CF. It's a recessive trait - you can carry it for generations in a family and not know it. It's a nasty disease - the sooner no one has to deal with it, the better.
Carrier rate in caucasians is 1 in 25 - more information here - I know most OBs don't do it - but if one partner tests positive on a panel screening, the second should have more in depth testing. (My gene, and one of my DH's do not show up on panels). If you have a family member with CF - find out what gene mutations and be sure they are included when you are tested.
When two carriers have a child - it's a 25% chance the child will have CF, 50% chance they will be a carrier and a 25% chance they will not have either gene. As a carrier, I have a 50% chance of passing my CF gene on. Any child of mine will be tested - that way they will know if they are a carrier or not when they grow up.
Even if you would not abort - it's important information to have. Not just for your current pregancy, but future ones. IVF/PGD can be used to select non-CF embryos.
Infants with CF (fortunately, infant screening picks up a lot of cases now) need treatment ASAP. The sooner medications are started, the better. It can lead to pneumonia, lung infections, and failure to thrive if untreated. A decent percentage of CF infants fail to pass the meconium, and require surgery. It would be important to deliver at a facility that would be able to handle that. Having a CF doctor already lined up before birth... also important.
*steps off soapbox*
The elevated risk is commonly referred to by doctors as "false positives". When you are faced with a 1 in 8 risk of Trisomy 18 - believe me, you look at it as a fact, or a result, until you rule it out. Therefore, I totally back the term "false positive".
I will NOT be doing any screening this time around. I did the NT Scan and bloodwork at 11 weeks - all looked great. My quad screen results came back not so great - with my risk for Trisomy 18 as a 1 in 8. It should have been 1 in 3200 or less for my age. It was HORRIBLE going through that. By 16 weeks I had felt baby kick and was bonding already. We had a level 2 u/s that showed no markers so after meeting with the genetic counsler we opted to not get the amnio - not worth the risk of m/c if it was a False Positive. I was monitored closely (weekly with NST from 28 weeks) to make sure my placenta was operating okay. DD was born with NO genetic defects.
I had done the screening because I had wanted to see the baby at 12 weeks. But the anxiety that 1:8 result gave me was brutal for 10 weeks of my pregnancy and I refuse to go through that again.
aCg 3.1.07 | hCr 5.5.11
With my DS, I had no choice to get it done (the screen for Downs syndrome, trisomy 18, and spina bifida), my doctor did it anyway, without telling me all the risks and how the screen usually always comes back positive (it has a 80% false positive rate) when my husband and I got the results we were so scared since it came back positive with Downs. We went and did the second screen, and saw the genetic counceler and turns out the second test came back negative, Owen was born a healthy 7lbs 1oz
With this pregnancy, we have already decided against it. it caused us unecessary stress, knowing the false positive rate. I'm not sure where you live, but in Canada its already included in our health care ,and I never had to pay for anything.