NT thoughts

A baby was born into our extended family last week, a little girl. She was now diagnosed with trisomy 21. Apparently there were no signs before hinting towards this (I don’t know what tests the parents actually had, or even what the standards in this country are). The actual issues are still in the process of being diagnosed, but I hope that, after the necessary tests and procedures, the little girl and her parents will thrive. If you happen to know any helpful resources, I’d be grateful if you could leave a link for me to forward.

Our NT scan is coming up at the end of the week, just barely in the window (my fault for booking a holiday right during this time). I worry, unsurprisingly perhaps. The phlebotomist didn’t find my clinic in their computer (which is almost certainly a mistake), and then she tried to put the wrong date of birth onto the vials, so I don’t even know if that part of the results will be available. But it’s not even the actual screening I’m most worried about – and in fact, I have no idea what we’d do if it were anything other than very small numbers. We love this tiny baby so much already. Mainly I’m just hoping to see him or her alive and growing. Other than lack of weight gain, I don’t have anything pointing towards any concerns – I’m still hungry and nauseous and tired. And realistically, the growth from 3g to 7g wouldn’t show up on my scale anyway. So, I’ll try to get through the week without worrying too much.

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9 thoughts on “NT thoughts

  1. I didn’t gain any weight during the first trimester of either of my pregnancies. I wouldn’t be concerned about that!

  2. I know a 2.5 year old with T21; I can ask her mother what resources she found especially helpful if you think your relative would be interested. This particular little girl is towards the severe end of expressivity (major heart defects, chronic bowel obstruction, open heart surgery, feeding tube, leukemia, almost a year inpatient so far in total – the proverbial million dollar baby, except probably closer to two or three million) so they’ve dealt with a lot.

    Standard of care here is that every pregnant patient is offered the blood-test screen, the 12-week NT scan, and a 20-week anatomy ultrasound. A lot of people (including me) decline the tests if they are low-risk, certain kinds of religious, etc.

    Although you and your relative may already be aware of it, the NLM has a good layperson’s language summary of practically everything. OMIM has much more scientific/ medical/ technical data, which tends to distress the non data-minded (I personally find it comforting to know statistics, but I’ve known people to say “A 5% chance? But that’s SO MUCH!!!”)

  3. I’m sorry for your family member, though T21 can be a condition with which people thrive, anything being out of the ordinary with a child is terrifying. A birth diagnosis was my personal nightmare (my first had T18, discovered at 18 weeks pregnant) when I was pregnant with my son (who is chromosomally typical and healthy).
    As for (lack of weight gain) I was losing weight at your stage of pregnancy. I only gained 18lbs from my pre-pregnancy weight and almost all of it in the last 2-3 months. Don’t stress!
    Nearly everyone has a good NT scan and a healthy baby. stories like your family member and my first are rare. IF anything seems out if the ordinary then you can move on to next steps. Until then try to enjoy pregnancy.

  4. Oh boy, how tough. I am sorry your family is facing this news. Like Liz said, this is hardly a death sentence, but we just want life to be easy and perfect for our babies, and this will mean a lot of challenges and some grieving of the imagined future. And this would amp up my level of terror about a NT scan completely. It’s already a terrifying experience.

    Alive and growing, E. Let’s do this.

  5. Your family member should definitely read the book Bloom by Kelle Hampton, as well as her blog at http://www.kellehampton.com. Both have completely changed my understanding of what it would be like to have a baby with Down Syndrome.

    I so totally understand how you feel about your NT scan. It’s so hard — my pregnancy with H. was my second IVF after a loss (and not even near the loss you had) and I felt like every milestone was a mountain to climb. But you’ll get through it — hopefully you’ve already gotten your good news and a picture of that little strawberry.

  6. I didn’t gain any weight my first trimester either. My doctor said that is perfectly normal!

    I couldn’t find your email address on the page, but I wanted to respond to your question on my blog. Around the beginning of the second trimester, I broke down and went to either Macy’s or Nordstroms to get sized for a pregnancy bra. It was SO WORTH IT and it felt so much better once the band wasn’t digging into my skin!

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