First Trimester Combined Screening *Possible Sensitive Topic*

posted 2 years ago in Pregnancy
Post # 16
Member
9157 posts
Buzzing Beekeeper
  • Wedding: October 2013

both my son and current pregnancy are IVF.  i was 34 when pregnant with my son, and 36 now (though with my 33 yo embryos).

for #1, i did the NT scan (ultrasound) at 12w.  pretty standard.

for #2, my ob didn’t understand IVF and said because I am AMA ( i was 35 at the time), i needed to do genetic counseling.  i tried to explain my embryo is still 33 but whatever.  we made the appt with the genetist and even she was shocked we were sent.  but since we were there, i decided to do everything.  the said the ultrasound was a little more comprehensive than the NT scan.  and then i did the cell free DNA test and since it was noninvasive and not harmful to the baby, i was ok with it. 

sometimes knowledge is power.  it can prepare you for things or help you to make a decision if there really is going to be a terrible outcome.  but it is not required, just recommended, so if you don’t want to do it, you don’t have to.

 

Post # 17
Member
1800 posts
Buzzing bee
  • Wedding: July 2015

My pregnancy story:  Was pregnant with my rainbow baby at 31 years old, following a miscarriage.  Started off with SCH bleeding, was told I was probably miscarrying again, but it turned out I was not.  Was offered NT scan and bloodtest, accepted because I wanted the ultrasound to see my baby. Baby looked great on the ultrasound.  Got a phone call fron the dr office and they left a message saying to call back right away.  Couldn’t get through so I drove to the office because I could tell something was wrong from the dr’s voice on the message.  She told me my bloodwork screened positive for down syndrome (1/4) and trisomy 18 (1/80).  They wanted me to see a genetic counselor asap.  My husband took off work and we went the next day.  I refused an amnio because I didn’t want to hurt my baby, but I got the NIPT blood test.  We knew we would not terminate a baby for Down syndrome, but I was not sure what to do if the baby had trisomy 18.  We figured if the NIPT screened positive for Trisomy 18, then we would go for the amnio.  Held my breath for a week waiting for the NIPT results.  Everything looked fine on the NIPT!!! and I learned my baby was a little girl.  Seriously most amazing test ever, and best feeling in my life.  Then I was told I should get a fetal echo of my baby’s heart since my little brother has a heart defect.  Got echo.  Was told they thought they saw my baby had a heart defect.  Had to come back and get an echo when my baby was 1 week old.  No heart defect.  My baby was totally fine.  My daughter is 15 months old now and the light of my life.  Next time I get pregnant, I am getting the NIPT test again.  If insurance won’t cover it, I will pay for it myself.  I don’t know if I would do the NT scan again.  I will probably discuss with my husband.  It was a lot of stress for nothing, but it did make it so insurance covered the NIPT when we screened positive.  And I do like seeing my baby on ultrasound.  But ugh that was a stressful time.

 

FYI I was told you are more likely to screen positive the older you are, because of the way they calculate baseline risk.  So a 35 year old might screen positive who has the same numbers as a 20 year old who screens negative.  Just know that going in.

Post # 18
Member
1498 posts
Bumble bee
  • Wedding: September 2015

I don’t see having more information as a bad thing.  

For me it was like, I obviously know that the trisomies and other genetic abnormalities exist, so I will be worried about the possibility regardless, test or no test.  So the tests were actually to put me more at ease.  In my situation the cell free fetal DNA test showed that my baby had a 1/1000 chance of having DS, which is lower than the baseline risk for my maternal age.  I just can’t handle not knowing stuff and that’s on me.     

Also lack of family history is not proof that one is “low risk”for trisomy 21.  According to the NIH: https://ghr.nlm.nih.gov/condition/down-syndrome#inheritance

Most cases of Down syndrome are not inherited<strong style=”font-style: italic;”>. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent.”

It’s more like a random cell mutation than an inherited genetic condition.  

Post # 19
Member
1227 posts
Bumble bee

Yes we did the testing. I’m in the UK and virtually everyone does it here. You can opt out if you choose to but it’s scheduled as a matter of course for everyone. 

I’m not sure what I would have done with a high risk result, but either way I wanted the information. 

You’ll get people commenting that they may have chosen not to because they had no family history, so assumes that makes them low risk, but the fact is that the vast majority of tri 18 and Downs are not inherited. 95% of Downs cases are randomly occurring, so, to me, that shouldn’t be part of the decision making process. 

Post # 20
Member
1322 posts
Bumble bee

We did, I didn’t think we would terminate but I liked the thought of being prepared if something were wrong. Luckily, he’s fine! We also had the blood work for spinabifida done. Again, just wanted to prepare as much as possible. As long as the test are non invasive, I’m all for knowing!

Post # 21
Member
408 posts
Helper bee
  • Wedding: November 2014

We did NIPT. We weren’t high risk for anything, but I am generally anxious about stuff like this, so it really helped give me peace of mind. Plus, we got to find out the baby’s gender early so that was super exciting 🙂

Post # 22
Member
1383 posts
Bumble bee
  • Wedding: February 2011

We didn’t do the testing with our first two children but did with our current pregnancy however it was mainly for peace of mind after we lost a pregnancy earlier in the year.

Post # 23
Member
7910 posts
Bumble Beekeeper

I did the standard first tri blood screening with ultrasound, but I didn’t do the more detailed Panorama. If the basic screening had been bad, I don’t know if it would’ve changed our approach with the baby, but it was still reassuring. Plus, the associated ultrasound was fun! 

I passed on the Panorama because there would likely be a significant out of pocket cost, which I didn’t think would be worth it (see above). Plus, I didn’t feel a burning need to find out the sex of the baby so early either. 

Post # 24
Member
96 posts
Worker bee
  • Wedding: June 2015

I was 38 so we did ALL the tests. Not because I would have terminated if the baby had downs syndrome, but because I thought we would need time to plan and learn about disabilities if we were going to have a disabled child.

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