Multiples

1:6 Positive First Trimester Screening with Identical Twins - Very Different Nuchal Readings

kbarn20kbarn20 member
edited August 2013 in Multiples
Hi! I am 13 weeks pregnant with identical twins. I became pregnant while on Paragard and have quite a bumpy ride thus far. My husband and I already have 3 wonderful kiddos and were pretty sure we didn't want more. Then, much to our surprise, we became that .4% who gets pregnant on an IUD.

Finding out we were pregnant was scary because the IUD was in place and that can cause major issues. They went to remove the IUD and it was stuck. I finally went to a specialist and he was able to remove it. We waiting for a couple weeks to see if we would miscarry and everything seemed fine. Then after about 2.5 weeks I had a very large streak of bright red blood. I assume I was having a miscarriage (i had one between my first and second child so I thought this looked the same) and we rushed to the specialist. They did another ultrasound, and voila, there were twins.

Man, for not wanting more kids, we sure hit the jackpot. It's taken us a few weeks to finally start to get over the shock of having 5 kids under 7, then we had our First Trimester Screening.

Initially when asked if we wanted this screening we were not told anything about potentially off numbers due to the fact they were twins. We were led to believe everything worked the same as a singleton pregnancy, so we opted in.

During the Nuchal screening the sonographer really struggled to get readings. She measure SO many times I can't even tell you how many. Well over 20. She kept getting different numbers on one baby. The other baby she couldn't get a reading on. So, she brought in another sonographer (the one who missed the twins on our very first ultrasound during the iud removal - my husband and I both swore we saw two then but dismissed it cause she didn't say anything), and she too really struggled. Not only did she struggle with the reading but she struggled with the new machine. Ugh! Anyway, finally we got them and then were led to do the blood test.

Fast forward a week and I get a call that we "need to talk about my results". Obviously, something was wrong. I made contact with the nurse at my regular OB, not the specialist, and she gave my the bad news, 1:6 chance of Down Syndrome. I was educated and started asking her a million questions that she couldnt answer. Later, I spoke with my regular OB who also couldn't answer my questions...and this is the point of my post:

Here are my readings:

Twin A
NT: 3.1 mm
2.31 MoM

Twin B
NT 1.8
1.42 Mom

Blood work:
Papp A -.90 MoM
HCG - 2.44 MoM

If I run the blood work with baby B's NT, its WELL within the safe range for T21, but Baby A is not. How is this possible. Is this a sign of something else? No one seems to have any answers at my regular office and I don't have an appt. with the specialist until next week. We are going to try and call him this week for clarification, but he is hard to reach. Any information is helpful!

Also wanted to share in case others are in the same boat.

Re: 1:6 Positive First Trimester Screening with Identical Twins - Very Different Nuchal Readings

  • I have no info on the test results but wishing you good luck.
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  • I don't know, because we didn't have NT scans, but have they recommended a CVS or something? I mean, it can't be a genetic disorder for only one of them if they are truly monochorionic, you know? My coworker's wife had identical twins who always measured differently and the doctors said almost certainly something was wrong with the smaller one (I believe he also had a larger NT measurement, but I don't recall) but he was born healthy, just smaller. Are the babies measuring similarly?
    image
    How to tell my boys apart

    The different types of twins and triplets
     
    Jack, Sydney and Carynne, Annaleigh, JW, Eden...forever in our hearts.
    My blog * We made the national news!
    image
  • can you request a level II ultrasound? You may have to go back to the specialist in order to have it done.
    A fellow member of the PA35 board I also post on, is going through a similar situation with her singleton pregnancy. Many others on that board have made this suggestion, based on a level II ultrasound can detect soft and hard markers for DS. The reason being that CVS is invasive and therefore has some (very small) risks of loss. So maybe you can avoid it if the level II does not show any indications.
    Best wishes on your decision.

    Lilypie Kids Birthday tickers  image


    Lilypie - (9CKY)Lilypie - (xzY1)





  • You can also research the maternt21 test as well. Sequenom offers the test for multiples and it is noninvasive.
  • Thanks for the responses! Baby B, the one with the normal results is measuring smaller than Baby A. They are only a couple days off from each other. Since they are identical I have ultrasounds every 3 weeks, so I have one scheduled for 15 weeks and 18. Then a level 2 at 20 weeks. My regular OB just doesn't know much, but the specialist hasn't actually spoke with us. I don't know, it seems so strange. I firmly believe the tech measured baby A incorrectly, but when I said that to my regular OB she was pretty defensive about how the specialist would never accept a bad reading. Any information helps, so I really do appreciate all the responses. Today I actually feel better about everything.
  • kbarn20kbarn20 member
    edited August 2013
    Forgot to mention, CVS as not offered. Amnio is an option but they said they won't do that until closer to 18/20 weeks and after the level II us. I don't thing I want to risk the amnio, though.
  • I declined the NT scan because my tech was having a horrid time just getting sizing on Baby A, at 12 weeks. I wasnt aware that there would be a difference in the results but that makes sense if you have two different sized babies. Ultimately, I have opted to consider an amnio is the 16 week scan shows any issues with  any of the measurements or organs.  I don't do well with percentages and statistics, I want definite answers and to know which twin. So, that points me to an amnio for definite answers. You can also opt to do a quad screen too, I think that's around 16-18 weeks? Big congrats though!! 

    Mono/Di Twins - Due March 3, 2014 (Realist EDD - Feb 5, 2014)

    Mommy to Jericho - 2 Years Old.

  • RynleighRynleigh member
    edited August 2013
    pea-kay said:
    I mean, it can't be a genetic disorder for only one of them if they are truly monochorionic, you know? 
    Unfortunately, it is theoretically possible... very improbable, but possible. *Mosaic* Downs is caused by an extra replication of chromosome 21 -after- fertilization, during early cell division... if you had a blastocyst split during early cell division and replication, it is *possible* to have one embryo develop with no abnormalities, and one develop that extra chromosome in mosaic - causing the one twin to have (and possibly express traits of) mosaic Downs while the other has no signs at all. On top of that, you could have two babies who are both mosaic where one expresses the traits and one does not. 

    This would be an incredibly rare scenario, regardless, because MDS is very rare as it is. This would be an extreme situation, if it were the case. 

    BUT - to the OP - I agree with everyone else. Wait until you get in with the specialist, get a level 2 done, and HANG IN THERE :) 
    image  image

    image image

    *Spontaneous* OHSS diagnosed 08.06.2012
    Right ovary removed 09.04.2012 via vertical laparotomy
    Essure implant placed on remaining tube 06.13.2013; successful followup scan 09.30.2013


  • I would also talk with your doctor about the maternit21 test, if you aren't interested in an amnio.  They will run maternit21 for multiples, and we did it with our identical twins.  Although if an abnormality shows up, the test won't say which twin is affected, but if your doctor is certain they are identical, then they should either both be affected or not by a chromosomal abnormality.  Chromosomal mosaicism is extremely rare.
    Married 8/2008. IVF with PGD March 2013.
    3/22 ER: 25R, 20M, 15F. 9 genetically normal, and 3 survived to Day 5
    3/27 ET: transferred 1 embryo, beta 9dp5dt=163, 12dp5dt=639
    4/25 1st ultrasound at 7 weeks = identical twins with heartbeats?!!!
    PPROM at 31w, delivery at 32 weeks of two beautiful girls
    image
  • CaliCarly77CaliCarly77 member
    edited August 2013
    Topanga said:
    You can also research the maternt21 test as well. Sequenom offers the test for multiples and it is noninvasive.
    THIS. This is a new test offered as of January 2012 - it uses maternal blood to test for trisomies and it is 99%+ accurate. They should offer this to you right away, as it is not invasive like an amnio or cvs. It works fine with twins, I was able to use it with my frats. 

    There are 5% false positives with NT/quad blood work, it is not always accurate, but you should definitely look into this further and get some more testing done to confirm or rule out the results. Good luck and lots of thoughts and prayers your way through this awful waiting game. 

    ETA - the blood draw for the Mat21 test can be taken any time after the 10 week mark. Results came back in less than 10 business days for me. 
    ********************************************************************************************
    Married my best friend, June 8, 2008

    5/17/13 BFP!!! 6/6/13 - OMG its TWINS!

    Josie and Lexie were born on January 4, 2014 at 37w2d
    Josie was 5lbs2oz, Lexie was 4lbs15oz 
    Both had a 9 APGAR score with no NICU time
    Planned unscheduled C-Section due to both being breech
    We all went home on Jan 6th, 2 days after surgery

    My popular blog posts:

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  • Great info here! Thank you!

    My husband called and talked to the specialists office today. Apparently, there was some sort of scheduling blunder. I should have been scheduled immediately to meet with a genetic counselor an to have a special ultrasound, but no one offered this to me from my regular ob's office when they called with the "news". So, we now have that set up for next Tuesday. It makes me feel better. I kinda felt left out to dry after the ob gave me the ratio.

    In all of this, I've realize I can handle anything so long as I have all the information. It's more like I just don't want to deal with issues by choice.
    But that's just not how life works,
    Right? Onward. We'll get this all sorted out. All of your posts in the last 24 hour have made such a difference.
  • I had similar results with my NT scan.  Because my twins were identical, they both would have had Down Syndrome, not just one, so while they discounted it, they couldn't rule it out completely.  It did notch things up a bit in terms of monitoring.  My anatomy scan was bumped up a few weeks, and they made sure to schedule a fetal echocardiogram.

    For my two, it ended up being a precursor to placenta/growth issues.  Once I delivered we could see that my placenta split 2/3 and 1/3, rather than down the middle.  One twin was significantly bigger than the other twin, who didn't get the same amount of nutrients.  

    Make sure you are monitored closely from here on out, with ultrasounds every few weeks to look for TTTS.  I transferred my care solely to my MFM at 18 weeks because I knew my OB couldn't handle my care.  
  • I'm going through something similar. I also have mono/di twins. One has a slightly larger liver. The first MFM told me that she was worried about downs. The second MFM and a blood test discounted that but they want me to get more tests. Next week I'm going for a 3-d ultrasound, a fetal echocardiogram, and an MRI. I'm very nervous.

    Did they offer you the sulfur(?) DNA test. It's a new blood test only around for a year but that's what discounted downs for us.

    GL. I hope everything turns out well for you and your babies.
  • PiperS, no I haven't been offered a Sulfer test and this is the first time I've heard of it. Did you have a regular First Trimester Screening which made her worry about downs? Maybe they will offer this to me at my next visit. I hope so, I would love another test (not amnio) to verify the original chances. I sincerely believe the measured wrong or that this is a sign of TTTS, but I also don't want to be niave.
  • kbarn20 said:
    PiperS, no I haven't been offered a Sulfer test and this is the first time I've heard of it. 
    Two of us above recommended these tests: MaterniT21 and similar options: Harmony and Verifi. I had the Mat21 test and ruled out downs at 11 weeks. I called them about a 1000 times, and they were always wonderful on the phone. 


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    Married my best friend, June 8, 2008

    5/17/13 BFP!!! 6/6/13 - OMG its TWINS!

    Josie and Lexie were born on January 4, 2014 at 37w2d
    Josie was 5lbs2oz, Lexie was 4lbs15oz 
    Both had a 9 APGAR score with no NICU time
    Planned unscheduled C-Section due to both being breech
    We all went home on Jan 6th, 2 days after surgery

    My popular blog posts:

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  • So the Sulfer test is the same as verifi and mat21? I've been reading the costs some have paid for these. Whew! I think it's worth it to know, but I'm really hoping insurance will cover it. I hope due to the high risk amnio has with twins, they will.
  • Thought I would post a follow up. My husband and I met with our genetic counselor on Monday. She was great. She verified all of the information I found online, which was great! While none of my numbers are actually really bad, combined (and only on baby A) they are risky compared to most woman pregnant with twins. That being said, she was very reassuring that this isn't diagnostic and the bloodwork is often off with twins. Good to know. I was amazed by the different tone she had versus my regular OBGYN who originally delivered the 1:6 odds to me like it was a death sentence.


    I also had another scan, but not a level II (still a wee bit too early for that). Baby B caught up to Baby A's size, they confirmed the nasal bone is present in both babies and their hearts look pretty good (although its still too early to get much detail).

    We did the Mat21 test at the office, which the Perinatalolgist said was a good choice at this stage. While it is still diagnostic, it is 98% accurate, even in twins. He said this test will look more closely at abnormal chromosome patterns in the blood versus just hormones. Results will be back mid Sept.

    I also found out we are having twin boys!!! :) For anyone counting, that makes 5 boys for me!!! I'm excited!
  • I just received a call from my specialist. My Mat21 came back negative for all three (T13, T18 and T21). I took the test on Tuesday, September 3rd at about 4 p.m. I know the test is only 98% accurate, but that is FAR better than the First Trimester Screening. I would strongly recommend this test to anyone having twins who had positive results from that First Trimester Screening.

    We will still do a level II ultrasound in 3 weeks to check for soft markers, but if that looks okay, I think they will go back to really just watching actively for TTTS. 

    Thanks to everyone for all your help and information! I really appreciate everything!
  • I'm glad you got good news! My identical girls are almost a month old. It was definitely a roller coaster pregnancy starting with the NT scan. I won't bore you with all the details. As hard as it is try not to rely so much on u/s results. I'm a hypocrite because I didn't follow that advice as much as I should have. Anyway, throughout pregnancy we would be told things that didn't always seem good and my girls are perfect! Congratulations on your twin boys!
    Lilypie Premature Baby tickers
  • Such good news. Keep us updated on the Level ll ultrasound.


  • Congrats on your boys! And I thought three was plenty. :)
    image
    How to tell my boys apart

    The different types of twins and triplets
     
    Jack, Sydney and Carynne, Annaleigh, JW, Eden...forever in our hearts.
    My blog * We made the national news!
    image
  • That's wonderful news!
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  • Great news!! We did the Mat21 first and it was just such a relief to have that information going into the ultrasounds (which confirmed the results at 12 weeks and 18 weeks) 

    Congrats....FIVE BOYS!! wow! good job momma! 
    ********************************************************************************************
    Married my best friend, June 8, 2008

    5/17/13 BFP!!! 6/6/13 - OMG its TWINS!

    Josie and Lexie were born on January 4, 2014 at 37w2d
    Josie was 5lbs2oz, Lexie was 4lbs15oz 
    Both had a 9 APGAR score with no NICU time
    Planned unscheduled C-Section due to both being breech
    We all went home on Jan 6th, 2 days after surgery

    My popular blog posts:

    imageimage

    imageimage
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