CF Carrier and thicker NT at almost 13 weeks......

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CF Carrier and thicker NT at almost 13 weeks......

Postby tjmurray1012 » Fri Apr 18, 2014 6:37 pm

Hi there, well after spending six months to conceive we were elated to find out we were pregnant with our third child. Due to all my miscarriages the doctor did a panel on my blood when she sent it to the lab she also ordered a cystic fibrosis test as well, I was unaware of this. The test came back that I was a CF carrier so I was told to go to the high risk doctor. Today was my appointment where my husband had his blood drawn to see if he is also a CF carrier to rule out the baby having CF. If that wasn't enough the ultrasound showed that the babies nuchal translucency (NT) at the base of the neck showed a measurement of 3.05. Normal measurements are between 1mm and 3mm so we were out of the normal range. They said that means that baby is at risk for Downs Syndrome, two chromosomal abnormalities that would result in death and heart defects as well as CF. I wasn't told any other measurements came back abnormal so I am going to assume the doctor would tell me if something else on the scan showed anything abnormal. Has anyone else had this measurement come back outside the normal range and the baby been fine? I am totally freaking out after this appointment. I have two other children and they are completely fine. We never did genetic testing with them so this one really threw us for a loop. Everyone is telling me not to get too worried about this but it is really hard after hearing this to not go overboard. I now have an appointment for a 20 week anatomy scan in 7 weeks and a 22 week fetal echo to check for heart issues. The doctor also drew my blood at the appointment to send to a lab to have a "panorama" blood panel done which I was told is 99% effective in diagnosing downs syndrome and will let us know if anything else is wrong. Has anyone had this test done? I really am just looking for some help to calm the nerves down as these tests take 2 weeks to come back. I am praying for the best but of course thinking the worst :-( Thanks for listening.....
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Re: CF Carrier and thicker NT at almost 13 weeks......

Postby Mand8301 » Sat Apr 19, 2014 12:48 pm

I did a lot of research leading up to my NT scan! As for the CF carrier, my doctor did this one for me as well. You need two carriers to have a CF child, so let's pray your hubby isn't a carrier as well! Even if he is, I think that only gives you a 25% chance of having a child with CF because I believe CF is a recessive trait!

As for the NT scan, you are JUST OVER the NT high range!! Just a smidge!! 0.05 less and you would've been in normal range. And btw, measurements are VERY hard to do sometimes! Often times, the sonographer is a smidge or two off of the actual measurement because of the baby's position/movement/etc! The panorama will be able to give you a specific answer, but please just try to rest assured that the NT measurements are often false positive!!!!! *HUGS* I'm sorry you are going through this!
Me: 33 yrs old
DH: 37 yrs old
DSD: 18
DSS: 15
DD: 2 (born 9/8/14)

Expecting number two around April 23, 2018!
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Re: CF Carrier and thicker NT at almost 13 weeks......

Postby funobulaks » Mon Apr 21, 2014 4:57 am

I have also heard of several women who have gotten NT scans over normal and who ended up with perfectly healthy babies. And as Mand said, it is so easy to get the measurements a tiny bit wrong and when you are talking mm, realize that it really freaking small and hard to get right. So, I wouldn't even think about it until you get the results of your blood work. Good luck, it is likely nothing !!
Me (Henriette)- 34, DH - 34
Married in Denmark May 2005
TTC since April 2012, 3 failed medicated IUIs......
....then finally a BFP after IUI #4 w/Menopur
Beta #1 =19, Beta #2 = 200,
It's TWINS!!
It is a boy AND a girl!!

Blog: http://www.elusivejewell.blogspot.com

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Re: CF Carrier and thicker NT at almost 13 weeks......

Postby tjmurray1012 » Mon Apr 21, 2014 1:04 pm

Thank you both for the responses..I called the doctor's office I just had so many questions so she told me what you both have said that the baby must be in a good position to accurately get the NT measurement as well as see the nasal bone. The baby was all over the place so she did have a hard time and took the NT measurement twice, with that being said she did reassure me that every other measurement was normal. She did see the nasal bone and said at this stage she doens't see anything that looks discouraging. I guess that should give me some sort of reassurance. The babies heart beat was in the 160's as well which is good. I also found out the my husband and my blood work should be back this friday for the CF test and 1st trimester screening which should give us percentages on how at risk the baby is of having downs, the trisomy 13 and 18 abnormalities and turner syndrome. I am hopeful that nothing is wrong and this is just a crazy experience that we will look back at and laugh at how much I freaked out. The panorma blood test will take another week to come back so I should know by next friday with 99% certainty if something is wrong. She also said that the panorma blood test can predict the baby's gender since it uses the DNA which I have never heard about before. I never did these tests with my previous two children has anyone had this test donea nd predicted the gender accurately? I am just curious I dont want to put to much faith in the gender results of this test but at this point I am just praying for a healthy baby in there :-)
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Re: CF Carrier and thicker NT at almost 13 weeks......

Postby funobulaks » Wed Apr 23, 2014 2:21 pm

I am glad that you were able to get some reassurance. As far as the prediction abilities of the test, I think is ~99%. We did the test and I just found out that there is circulating Y chromosomes, so now I know that we are having at least one boy - if it is accurate...we'll just have to wait and see. I am sure other mommies out there have tried done it and can tell you.
Me (Henriette)- 34, DH - 34
Married in Denmark May 2005
TTC since April 2012, 3 failed medicated IUIs......
....then finally a BFP after IUI #4 w/Menopur
Beta #1 =19, Beta #2 = 200,
It's TWINS!!
It is a boy AND a girl!!

Blog: http://www.elusivejewell.blogspot.com

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