Abnormal NT Scan/Cystic Hygroma — The Bump
1st Trimester

Abnormal NT Scan/Cystic Hygroma

Hello All, 

I'm wondering if someone here may have had an abnormal NT scan and went on to have a healthy baby? 

My due date was set for 3/29/2020, however, my baby has consistently measured 5 or more days behind which has always freaked me out, but I was reassured this is normal. This week I went for an NT scan, suddenly the size of the baby was a concern for everyone. I should have been 13 weeks (based on my due date) but the baby measured at 12 weeks which is exactly what I expected. 

The tech doing my scan had a hard time seeing the baby and recommended my doctor send me to a high-risk clinic. 

The doctor at the second clinic told me that though my baby was not in the optimal position for measuring the NT (baby was upside down), they could tell the neck was thicker than it should be (5mm). There was also fluid around the baby, and in conjunction with the size of the baby, she diagnosed it as a Cystic Hygroma. I was told there is a 50/50 chance my baby will have a chromosomal abnormality. I immediately took a NIPT test and now have to way 7-10 days for results (which aren't 100% accurate) and I am an absolute mess. 

Has anyone else had experience with this?

Re: Abnormal NT Scan/Cystic Hygroma

  • Hi @aleriasnow
     I’m so sorry that you received that information as I’ve been there too. At a little over 13 weeks, my baby was found to have an increased NT of 3.65 which was diagnosed as a cystic hygroma. We did the NIPT and results indicated no sign of chromosomal defect. We saw a high risk physician for our 20 week scan, had a fetal echocardiogram, and did an amniocentesis. All results came back “normal”. I went on to have a healthy baby at 37 weeks via csection due to breech and IUGR. Baby measured small and delayed growing through pregnancy but was perfectly healthy at birth. She is almost two now with no issues.  I know this is a lot of detail but when I researched I could find limited information that was positive so I wanted to share. Best of luck and positive thoughts!
  • @aleriasnow I have gone through the same thing as you & I'm sorry you're doing through it. We had a cystic hygroma + a high NT measurement. I'm glad you're getting the NIPT, but please please please schedule an appointment with a genetic counselor to go over your results. OB's are NOT genetic counselors, so they are not the people who should interpret results. When you have an increased nuchal with a cystic hygroma, a genetic counselor must hand calculate your risk score. The NIPT will NOT do this for you. All results must be looked at as a whole. 

    If anything comes back as an increased risk on the NIPT, you will most likely be advised to do an amnio. 

    In my case, our NIPT showed an increased risk of T13 and an additional U/S 1 week later showed the nuchal had increased and hydrops had developed. Ask for another U/S & a genetic counselor. 

    Good luck and I'm a PM away you need anything. 

    married 11.1.14

    ttc #1 since 5.18

    bfp 12.22.18 letrozole + progesterone

    d&e due to trisomy 13/hydrops at 15wks

    bfp 7.21.19 letrozole + IUI 

    little girl A born 3.26.20

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  • Thank you both so much for your responses and for sharing your experiences with me. 
    I'm trying to stay as positive as possible while being informed. 

    Thank you! 
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