NT Scan Results (and ? about Texas Peri nat al Group) *long*

funkymonkeyohyeahhh

We had our NT scan yesterday and they found an elevated NT measurement (3.6mm). The doctor said there was no point in doing the blood work because the measurement would skew my results so much, and they almost always see the odds come back really "grim". He said there's a 50% chance our baby has a heart defect, trisomy disorder, or something else like Turner's Syndrome.

I asked about the nasal bone because I'd read that was another marker. He said it was present (and I must say our baby has the most adorable nose) but that it doesn't discount the measurement. 

They repeatedly told us the only way to get a diagnosis was further testing, which we knew going in, but we kept saying we were not interested. They kept pushing for an amnio. My husband had a daughter in a previous relationship that had suspected Downs and they chose to do an amnio. The baby passed away shortly after and my husband struggles deeply with that. So, we kept explaining that further testing that even slightly risks miscarriage is just not something we are open to. (FWIW, at the time my husband was told his daughter's Downs was not the genetic form and the chance of anything happening again was 1 in a million. I feel terrible for him though because he is convinced something is wrong with him and this is his "fault".)

We scheduled our anatomy scan which they said can be used to check for other markers, but it wouldn't tell us much. We also scheduled an echo-cardiogram for late December to check for heart problems.

We left there feeling devastated about the results we were given. I got home and started Googling and found that our measurement isn't ideal but it isn't terrible. I found a few stats that at 3.5mm, 9 times out of 10 the baby is born perfectly healthy. Ours is just 0.1mm over that so I find hope in that. And apparently, the nasal bone being there is a good sign as 3 out of 4 babies with something "wrong" don't have it. I really feel like I'm grasping for straws here.

I seem to remember someone posting a while back on here about Texas Peri nat al Group being really pro amnio at their appointment too. Are they just like this or is our situation really serious and they're doing what they think is best? I felt like they were nice at the appointment but since getting home, the more I research and think about it the more I feel like we were given a huge kick in the gut with no sense of hope. Yeah, 50% is not terrible odds, but from what I've researched the odds shouldn't be that "bad" based on our measurement.

Does anyone has experience with this practice? Opinions?

Anyone have experience with an elevated measurement? Outcomes? 

If you made it this far, thank you. 

rssnlvr

Oh FunkyM, I'm so sorry. And so sorry for your husband and the way he's feeling. I don't think you're grasping at straws, I think you're looking for hope. I don't have any experience with that practice, but I will pray for you, your DH, and the babe, and I hope your anatomy scan gives you the peace of mind you need. (((hugs)))

amyliisa

Oh wow, I'm so sorry you received such shocking news, and my heart goes out to you and your DH.  I can't imagine.

I don't have any experience with that practice.  We went to Austin Peri natal Assoc iates and really like them, if you think you might like a second opinion.  We had genetic counseling before our NT scan and told the counselor we most likely would not opt for further testing, even if the outcome of the NT was less than favorable, and she left us alone about it.  Fortunately, we were comfortable with our NT resulst and did not have to reconsider further testing, so I'm not sure how that practice would have handled suggesting an amnio, etc.

I will say that I think 50/50 are good odds.  If I were in your shoes, I'd make the same choices that you are making.  It would be hard, no doubt, but ultimately I'd rely on my faith and believe that no matter what happens, this is the baby I was meant to have. 

Hugs to you and your hubby, and continued prayers for a healthy baby and pregnancy.

misjenn

I am so sorry. I am sure your brain is swirling. I can't say anything about TPG but I would suggest a second opinion. I can't recommend Austin Perinatal- Dr. B e r r y. IMHO he is the only peri I would go see. I have had to see him with all my pregnancies (sometimes weekly) and he is incredibly supportive in what you want to do (didn't push amnio) but gives you the information straight in a caring way. I would see if you can go in and have them check for different markers. A second opinion may give you more answers. I am so sorry you are going through this.

 

Mrs.Froggianna

First, I'll hold good thoughts for you and your babe. 

We opted not to do NT testing on either of our boys, so I don't have any experience with measurements.  But my OB sends all her patients to Austin Perinatal Assoc for their anatomy scans and I've really liked them both times.  I only saw Dr. B erry at Luke's a/s (not this one) and I liked his bedside manner.  I definitely agree with PP--if you're not comfortable with the care you received, get a second opinion.  It really can't hurt and could give you the peace of mind you need.

Good luck and like I said, I'll definitely be holding good T&Ps for you.

amyinaustin

I'm so sorry for your experience yesterday - I can only imagine all of the emotions you guys are going through right now. 

We never had an NT scan there, just our anatomy scans (for each pregnancy).  My experience with the staff was good though.  That being said, they did not find any issues with our U/S - so I can't comment on how they are in more difficult situations.

I will say this though - we were only referred there for our big U/S - and outside of that, we did not have any contact with them.  I have always talked w/ my OB at great length when it comes to risks/tests/etc for any prenatal stuff and he has been very helpful and understanding.  I'm not sure if you are dealing with this office more - but I find that it's probably hard to develop a real relationship with the doctors there b/c they are not as involved with your entire pregnancy, you know?  And so it's really hard to determine if they are acting in your best interest.

I encourage you to talk with your OB some more.  I would have a gazillion questions and concerns and you are probably much more comfortable with your OB than the TPG doctor.  You're doing the right thing and being a good mommy - looking for answers and trying to do what's best for your little bean.  Sending lots of thoughts and prayers your way.

((Hugs))

 

PrincessBrideSarah

I'm so sorry and do hope that the elevated measurement doesn't mean anything.

With DD #2, the measurement wasn't elevated (1.39) and a nasal bone was present, but my Downs risk was high (1 in 34) once they did the blood work and combined it with the measurement.

I had all testing through my OB''s office. Once I was given the 1 in 34 number, they offered to refer me to a perinatal group if I wanted CVS testing. They also offered an amnio, but that could not be done until 16 weeks or so.

DH and I had no plans to end the pregnancy, and he was fine with doing no further testing and hoping for the best since ultimately there was nothing we could do to change things. I, however, was a mess and wanted to be able to enjoy the rest of my pregnancy and have time to grieve prior to the birth if there was a problem, so we opted to do the amnio.

The amnio showed "apparently normal female" (those were the words in the report), and #2 was born 2 months ago with no apparent issues.

My doctor's office was not pushy at all about the invasive testing. They said what my results were and very matter-of-factly offered my options (do nothing, have a CVS right away, or wait until 16 weeks for the amnio). Right before I had the amnio, the nurse even said, "You know, you don't HAVE to do this."

I think the perinatalogist office may be pushing an amnio or CVS because it is the only way to know for sure if there is an issue. The NT scan and bloodwork are screening tests that are meant to help people decide if they want the more invasive/expensive/risky tests (CVS or amnio).

The anatomy scan at 20-24 weeks will give further information, but it won't tell you for sure if there is a trisomy or Downs.

Only you and your DH can decide what you want to do. I personally just couldn't handle not knowing for 6 months. If there was bad news, I wanted to know as soon as possible. If there had been a Downs diagnosis, I planned on researching and choosing specialists if any were likely to be needed rather than just getting whichever doctor was on call.

It sounds like you want better information about your odds. Is there a genetic counselor at that practice who you could consult?

If you do want to have an amnio, it wasn't fun, but I think it was worth it for the information it provided. If you go that route, make sure that the lab that analyzes the fluid is in network with your insurance.

I really don't know how concerning your measurement is. Even if there is a 50% chance of a problem, that is a 50% chance that there isn't a problem.

The screening tests do just give odds. You could ask to do the blood tests in order to get actual odds, but they will be elevated due to the measurement. 

I'm sorry you and your DH are going through this and hope you get better news at the next appointment. 

agran

I'm so very, very sorry and I know exactly how you feel.  This is all very overwhelming and scary and it's troubling when you feel like no one can give you answers.  I've learned sometimes there really aren't answers to give. 

I'm the one who posted about Texas Peri and pushing the amnio.  We've had major complications develop and I have very strong feelings about Texas Peri-- I didn't have a good experience the last two times I went there.  I felt like we saw a different doctor every single time, no one really answered our questions, and no one was willing to do anything for our baby.  I've learned that their practice is evidence based and they take a more wait and see approach (or do the amnio to know for sure).  I've often been troubled that they pushed me hard to do an amnio but the last doctor who saw us (Ridge way) told my OB he was fairly certain our placental failure wasn't due to chromosomal issues.  Then why push the amnio? 

I did feel a million times better about our abnormal quad screening after speaking to the genetic counselor.  She made it sound like our odds really weren't that bad.  That of course was the day before our devastating ultrasound.  I've since learned that my bloodwork and the abnormal levels was a classic sign of early onset placental failure.  I can't help but feel like if someone had been proactive at 15 weeks when we got the blood work that we might have bought ourselves a little more time which can mean life or death for my baby girl.  I'll never know-- and probably nothing could have even been done then-- but I'll always wonder. 

Be proactive, push as much as you need to get the answers you want.  I can highly recomend David Barry at Austin Peri natal Group.  He has been proactive, supportive, and very real and honest with us.  Even though he hasn't given us any different news he has been willing to work with us and let us try everything we can.  Texas Peri basically told me to go on about life until her heart stops-- there was nothing that would help. 

 Always remember the odds are in your favor.  You are a great mom and you control what happens here.  Fight for your baby. 

funkymonkeyohyeahhh

Thank you for all the support everyone. I will check in to the other practice that's been recommended a few times in this thread.

I am so sorry about your baby girl, agran. Can I ask what the ultrasound found that's given you this diagnosis? I completely understand if you don't feel comfortable discussing. *Hugs to you* 

brideonjuly8

I'm so sorry you are dealing with all this.  I'll be praying for you guys.  ((hugs))

Mrs.Talala

I?m sorry you had a bad experience at T P G. ?I work in genetics so I know most of those guys.? Some are great, others not so much. ?Their regular genetic counselor who I love is actually out on maternity leave. ?Doesn?t excuse what happened though.? ? It is a shame that you felt pressured to do an amnio.? An amnio is a good option for some couples but not for all. ?I think there are plenty of other ways to get more information that you can consider. ?I would totally recommend getting a good anatomy scan between 18-20 weeks and a fetal echo (usually 22ish weeks). ?If you aren?t comfortable at TPG maybe talk to your OB about going someplace else for a 2nd opinion and your additional testing? ? I know many people who love Dr. Be rry. ?His genetic counselor is Kath ryn and she is great as well. ?There are a few other perinatologists in town.? My personal favorite is Dr. Cel este She ppard.? She is one of the smartest women I know. ?When I had a concerning ultrasound during my pregnancy I went to her for a second opinion and she was amazing.? She doesn?t have a genetic counselor because she does all the counseling herself and is very good at it. ? I pulled out a few textbooks and looked at numbers.? Depending on what you read you will find different cut offs for what is normal for nuchal translucencies. ?Make sure you are looking at translucency info and NOT nuchal thickness. ?The thickness is measured during the 2nd trimester.? For NT is the 1st trimester the cut off is anywhere between 3 and 3.5mm.? Every center has a different cut off and sometimes they base the cut offs on percentiles.? From what I can read the risk of a chromosome problem is about 40-60% when you see an increased NT between 11-14 weeks.? Increased NTs can also be seen with other abnormalities such as heart defects. ?It appears though for babies with increased NTs who have normal chromosomes the outcome is usually good.? Apparently, the best outcome is seen with the increased NT resolves a few weeks after it is initially seen.? ? ? I do think it is good that the nasal bone is present.? But it is pretty difficult to add markers together to get a new risk number.? There are some labs that do first trimester screening that include your age, blood work, NT measurement and presence/absence of nasal bone and then you get a risk for down syndrome and trisomy 18.? I?m pretty sure the lab that Dr. Sheppard uses can include all this information.? But this only gets you a percentage; it won?t tell you for sure if the baby has a chromosome anomaly.? However, if you want more information but don?t want to take the risk of a CVS or amnio, then maybe the blood work would be helpful.? Just a thought.? ? ? I feel like I am rambling, sorry.? Lots of thoughts and prayers your way!

funkymonkeyohyeahhh

Mrs.Talala:

Thanks so much for your reply!

I thought the staff was nice while we were there, but I left feeling so defeated. In the moment, I thought they were just delivering reality but the more I research the more I feel like they painted the worst possible picture and didn't give me any reassurance. Maybe there isn't any to give? I don't know. At the time, the 50/50 chance seemed like a death sentence and it was mentioned that my baby may not survive at all. I can't really put in to words what I am trying to say. How bad is it really? Is there any other info you can provide?  

So you do think the blood work would help give a better picture of our odds? I asked about it twice and they said with our measurement being so bad, it would skew the results and they almost always come back really bad so there wasn't much of a point in doing it. I'm afraid to see the numbers, but at the same time I'm left wondering.  I guess either way I will be left wondering.

I just hate that this happening. I'm mad and obviously wondering what we did to deserve this. I hate that my husband feels like it's his fault and I'm terrified that he will go through losing another child. 

agran

don't mind sharing at all.  We have early onset IUGR casued by placental failure.  Basically she is not growing more than about an ounce a week (well hopefully she's catching up but we won't know till next week).  I also have absent end diastolic flow meaning the baby is getting nutrients in but not much is going out.  If we can get her over a pound we'll deliver her and hope she can survive in the NICU.  With absent end diastolic flow it will eventually slip to reverse flow with will cause congestive heart failure.  we're racing against time and praying she is growing as much as possible.  She was 9 oz two weeks ago-- they don't make ventilator tubing small enough to intubate her. 

We don't know the cause and won't until we have a placenta to look at.  But it happens in around one percent of pregnancies and is just bad luck.  My NT scan was normal-- I did the blood work with it and had "elevated AFP".  Texas Peri told me it was a sign of neural tube defects so rushed me in for a level II ultrasound at about 16 weeks.  Everything was fine then.  No spine or brain issues and baby was measuring right on track. They still pushed amnio to know "for sure" but we declined.  I went back in at 21 weeks for a follow up ultrasound and she was measuring 18 weeks.  (FWIW the genetic counselor told us the ultrasound will rule out 94 percent of all neural tube defect cases and amnio would only raise that to ruling out 96 percent-- so we felt confident we didn't have neural tube defects and this was just a fluke high number-- I have nothing bad to say about the genetic counselors at Texas Peri-- she was wonderful). 

I've since learned from Dr. Barry that my AFP was four times higher than it should have been and that is a sign of neural tube defects (which Texas peri looked for) or placental failure (which Texas peri never even mentioned).  You see which one I got. 

I've also heard good things about Celeste Shep herd (my OB rec'd her as well for our second opinion). 

SarahPLiz

We went to Texas Peri for our NT Scan and Quad Screen. I had AFP 3x the amount they wanted to see, but our ultrasound was clear of defects. My OB said that it meant I had like a 2% higher chance of preterm labor, but she wasn't worried. Our genetic counselor was actually a friend of mine from triathlons and she didn't push the amnio at all after the ultrasound. No one ever said anything about placental failure, though. I wonder if that's why my water broke at 32w5d. Hmmm. By the time he delivered and they did the pathology at 34w4d, my placenta was infected. He was 5lb 4oz, though, so I'm pretty sure he was getting all his nutrients. Makes me wonder, though, now that you mentioned placental failure. 

funkymonkeyohyeahhh

Agran- So many positive thoughts and prayers for your baby girl! I hope that your next scan shows a wonderful weight gain. I am so sorry for what you are going through!

Mrs.Talala

funkymonkeyohyeahhh:

Mrs.Talala:

Thanks so much for your reply!

I thought the staff was nice while we were there, but I left feeling so defeated. In the moment, I thought they were just delivering reality but the more I research the more I feel like they painted the worst possible picture and didn't give me any reassurance. Maybe there isn't any to give? I don't know. At the time, the 50/50 chance seemed like a death sentence and it was mentioned that my baby may not survive at all. I can't really put in to words what I am trying to say. How bad is it really? Is there any other info you can provide?  

So you do think the blood work would help give a better picture of our odds? I asked about it twice and they said with our measurement being so bad, it would skew the results and they almost always come back really bad so there wasn't much of a point in doing it. I'm afraid to see the numbers, but at the same time I'm left wondering.  I guess either way I will be left wondering.

I just hate that this happening. I'm mad and obviously wondering what we did to deserve this. I hate that my husband feels like it's his fault and I'm terrified that he will go through losing another child. 

Can I send you an email or vice versa? Gayle dot Simpson at gmail dot com

funkymonkeyohyeahhh

Mrs.Talala:

Can I send you an email or vice versa? Gayle dot Simpson at gmail dot com

YGEM!

amycathy

rssnlvr:

Oh FunkyM, I'm so sorry. And so sorry for your husband and the way he's feeling. I don't think you're grasping at straws, I think you're looking for hope. I don't have any experience with that practice, but I will pray for you, your DH, and the babe, and I hope your anatomy scan gives you the peace of mind you need. (((hugs)))

 

Ditto Rssn and everyone else!

I love Dr. Berry! He is amazing!

Amy 

AustinMimi

I can't offer any advice, but I'm so sorry for this stress and will keep you in my thoughts for everything to be fine.

MnMShaw

rssnlvr:

Oh FunkyM, I'm so sorry. And so sorry for your husband and the way he's feeling. I don't think you're grasping at straws, I think you're looking for hope. I don't have any experience with that practice, but I will pray for you, your DH, and the babe, and I hope your anatomy scan gives you the peace of mind you need. (((hugs)))

Rssn said it better than I could.  Lots of thoughts and prayers for y'all!