Had NT and CVS testing yesterday - borderline results

epphd

Hi all,

In light of the numerous NT/screening posts, I thought I would share my experience yesterday.  We opted to have an NT and CVS (chorionic villus sampling - similar to an amnio but they pull a sample of the placenta to do genetic testing) since I am 36 and have a history of infertility that was thought to be due to poor egg quality.  Indeed, we used donor eggs to conceive our first child, and never dreamed we'd become pregnant on our own.

At every step of this pregnancy I've been stunned to make it so far - stunned to see a BFP, stunned to see an embryonic pregnancy, stunned to see a heartbeat. So yesterday we were stunned to see a baby looking creature on the u/s, with two arms and legs, a brain, bladder and stomach, squirming around like normal - even measuring a couple of days ahead.

Our NT reading was troubling though - depending on the clinic, some would call it elevated (it was 2.5mm), and some would call it high normal.   However, the nasal bone was seen, and there were no other troubling indications on the scan.

We talked to the genetic counselor and decided to proceed with the CVS.  It was fast and only a bit painful - more unpleasant and weird than anything. We should get preliminary findings on trisomies and sex (T21, T13, and T18, plus sex chromosomes) today or tomorrow.  The full analysis, which will tell us about structural chromosomal concerns such as inversions, deletions, or translocations, will take two weeks.

Ladies - I cannot fathom how long that wait will be!! TWO WEEKS!  Hence, we opted to pay extra for the expedited screening that will give us the prelim results today (if anyone wants to know about FISH let me know).

Anyway, I have a good friend who is a pediatric geneticist, married to a genetic counselor and she's been a great source of advice.  She said that what is troubling about the NT (and it is still most likely 100% fine) is not the increased risk of chromosomal issues.  She said that the bigger concern - which can also be linked to chromosomal issues but doesn't have to be is cardiac defects.  So, our reading may trigger closer monitoring of the heart later on, even if our chromosomal analysis is spotless.  

The reason I mention this is because I feel like we (myself included) get wrapped up in the NT telling us about Down Syndrome or other trisomies.  One key thing it can pick up is an increased risk of a heart defect.  That could warrant close monitoring and even suggest the need for a specialist at delivery.  

This gets back to the "I'd never terminate so why bother screening" argument - I am so glad to know that we should talk to our OB about potential cardiac risks. I want to know as soon as humanly possible whether our baby will need special care.  IMO, that's the best way to be prepared and give our child the best chance at a healthy life.

OK, now I've written a book.  As I sit here waiting for the phone to ring, I just thought I'd share.

 

camdenfaithful

I hope you guys get some good news very soon.

FWIW I had my NT done on Tuesday and they considered anything 2.5 and under to be normal.  Maybe they're just being extra cautious given your past.

Good luck!

BlondeBride123

Thank you for sharing your experience!  Hope you get good results soon!

JKGymnast

Thank you for sharing all this information... I think you made some good decisions - I'd do the CVS as well as pay the expedited fee if I were you.  Fingers crossed for the best results.  PS: What is 'FISH'?

BrittDanX

Thank you so much for writing about your experience. I knew the NT scan picked up a lot of things, but I didn't know heart defects was one of them. Just seals the deal for me on my decision to get an NT scan.

I hope you get wonderful news when that phone rings. You'll be in my prayers!

epphd

JKGymnast:

Thank you for sharing all this information... I think you made some good decisions - I'd do the CVS as well as pay the expedited fee if I were you.  Fingers crossed for the best results.  PS: What is 'FISH'?

Fluorescence in situ hybridization.  In regular chromosome analysis, cells have to expanded and then arrested just before they divide - this is because it is just prior to division that that  chromosomes condense into those nice looking structures we're used to seeing.  During the rest of the cell cycle the chromosomes are floppy and partially unwound and can't be analyzed visually. The whole process takes time.  With FISH, the specific fluorescent probes are used to target chromosomal regions of interest.  The probes bind to the specific chromosomes (say chromosome 21 or 18 or 13), whether they are condensed or unravelled.  So the probes can bind to chromosomes at any point in the cell cycle. Once the probes are fluorescent, so they are like little beacons that allow a scientist (or a machine) to read out how many beacons there are per cell.  There should be two for each chromosome.  Three means trisomy.  One means monsomy.

Here is a picture of a cell with FISH probes to chromosome 21 and to 13 - there are three chromosome 21s(in this case, pink) - so trisomy 21, or DS.  There are two chromsomes 13 (in this case, blue), which is normal.  There are endless variations on the types of probes that can be used - so they can detect not just whole chromosomes but also copies of genes of interest, etc.  

 

 In contrast, this is the type of information that one uses for the full chromosome analysis - a chromosome spread, or karyotype:

 

 

For the full analysis, at least 15 cells are profiled individually.  In the FISH analysis at least 50 cells are profiled.  This is to rule out mosaicism or contribution from maternal cells.

 (and thanks for the good wishes!!)

Geekchick921

Oh, epphd, I'm so sorry you're dealing with that.  I hope the preliminary results are good and can give you some peace of mind while you wait to get the more detailed results back.

PurplePanda83

Thank you for the info. I hope you  get amazing results soon!

We plan on having the NT scan done because my DH has a heart condition and they had mentioned that it can pick up on heart defects. My DH, his father, and his grandfather all had heart troubles, but none of them were the same condition. DH's condition, even though it is rooted in a slight defect did not present itself at all until he was 19. His sister (who is 23) is starting to have some issues now as well that may be similar. So heart health is very important to us!

sadiesauce

Sending good thoughts!

Temp123197812503460

I hope you get good news! I also had a less than super test with a measurement of 2.8, we are doing the amnio in 4 weeks.

shanna82

I'm sorry you are going through this and hope everything turns out perfect.

Just so you can hear some happy outcomes, 2 girls over on PgAL recently had a high measurement also and thei CVS results came back perfect.

ChrissyLonghorn

Thank you so much for sharing.  I too am opting for the CVS. I'm sorry you are having to worry.  I've heard of many women that have had higher than average numbers and they're babies were perfectly heatlhy.

I hope you get great results very soon!!

spower5

Thank you for sharing.  I hope you get very positive results soon!  Good Luck.

siren0076

Thank you for sharing. I am going to be 35 before our little one is born and we decided we will have genetic testing done. Not overly thrilled with the idea of a huge needle in my belly. We will speak with the doctor about cvs in the next few weeks. Best wishes on your results.

TeacherVicky

Thank you for sharing. I hope you get a phone call very soon. Keep us updated.

julygal

Excellent point about the fluid also being an indicator of heart defect.  DS had a thickened nuchal fold in the second trimester and the specialist was 1st concerned about downs and second about heart defects.   Anyway, we did the amnio to rule out downs and a fetal echocardiogram to rule out heart defects.  Everything turned out fine, but it was important to have it looked into.  It would have changed the hospital we delivered at, etc.

ETA:  I hope you get good results.  You are lucky that they have FISH results available in your area,   

epphd

Hi everyone,

I don't want to start a new thread, but did want to update in case anyone wants to know.  We got the FISH results today and they were not good.  We are scheduling a D&E for next week. We are heartbroken and so sad, but I think I knew from the scan -from even earlier - that something was wrong. While they say that 9/10 pregnancies with thickened readings go on to be healthy, someone has to be the 1/10.  We are the one.  We've been that one before with IF, so we're kind of used to bad news.

I wish you all the very best.

duchess0727

Thanks for sharing the experience.  Even waiting for FISH results can be difficult but certainly much easier than waiting two weeks!  It's great that you pointed out on the benefits of the NT scan.  I completely agree.  My daughter has a congenital heart defect that was diagnosed in utero and she was monitored by a cardiologist through the pregnancy and delivery.  She also has an undiagnosed genetic issue that was not detected on the NT scan or on an amnio.  So I'm a firm believer in testing and I will get every test I can to be prepared.  I already have a kid who requires additional help and is monitored by a bunch of doctors.  If that's going to happen again, then knowing earlier would be a big help.  Good luck with your results!

camdenfaithful

I am so incredibly sorry.  I was thinking about you yesterday when I didn't see an update yesterday afternoon.  My heart is breaking for you right now.

((((HUGS))))

duchess0727

So sorry to hear your news.  Sending hugs your way. 

BrittDanX

I am so so sorry you are having to go through this. I will pray for peace for you and your family.