Genetic Testing Update

27 Jun

Okay, so, today we had another appointment. As you have probably already read if you have been following this saga as it develops, we got the quad screen blood test results back and they showed we had a 1:12 risk for having a baby with Down’s. I cried a lot because it’s a lot to process. I went back and forth regarding what we’ll do, how we’ll deal, etc. I am a TOTAL hope for the best but prepare for the worst personality. Between all the thinking and research, the support of my wonderful husband, and the incredible outpouring of love from my friends, family, and even acquaintances, I had come to a place where I was just kind of like, whatever the news, we’ll deal. I love children and I have worked with disabled adults and kids, and there are way worse things your baby can be born with than Down’s. It’s not optimal, it’s not what you hope for, but it’s certainly surmountable.

So we went in for the genetic counseling and they pretty much signed us in and sent us directly upstairs for an ultrasound. The ultrasound took FOREVER because they look for all these different markers that can indicate a problem (Down’s or otherwise), and Baby Jig was not cooperating. The one thing he DID cooperate with was gender – we now know we are having a little man. 🙂 Anyhow, he was on his head, chin tucked in, arms behind his head – really doing a little gymnast routine. He waited till the VERY end to finally give the tech a nice profile shot, which I will scan and post here, but currently my husband I think has all the pics in his jacket and he’s gone to work. The end result of the ultrasound was a 100% healthy-looking baby with NO markers for Down’s or any other defects. My placenta is currently blocking my cervix (praevia) but the tech and the doctor both said that this early, that is not a problem and they expect it will move as my uterus stretches (I am still barely showing). Even if it doesn’t, all this means is a C-section, which again, is not optimal BUT is certainly far from the worst thing that can happen!

So after all this we went down to see the genetic counselor. She informed us that the risk after the perfect u/s was reduced to 1:24, or 4-5%. I went in this morning thinking, I am definitely going to get an amnio. I was aware of the MaterniT21 test from all the research I’d done, but I wanted the fast results that the FISH test would provide. The days have passed very slowly since Friday and I was ready for some definitive answers. However, after learning that our risk had dropped, and feeling very confident after seeing Baby BOY Jig do his tumbling routine on the u/s, I opted instead for the MaterniT21 test. It is a new test – 7 months or so old – and the results are about 98% accurate. The main benefit is that it is noninvasive – it’s a blood test, so there is no danger to the baby. Results will take two weeks, and if they do come back positive, we will again have to consider amnio for a more definitive answer. I feel really optimistic now, though – preparing for the worst helped me cope and I feel comfortable no matter what the results are at this point. Of course I hope for a 100% perfectly healthy baby, but I am glad that he seems well and is snuggled in happily doing his thing.

One other note is based on his size, we seem to be about a week ahead of where we thought, which would move our due date to around the 24th of November. So we could be expecting a Thanksgiving baby. 🙂

Thank you AGAIN for all the love and support! Words cannot express my gratitude, appreciation, and awe at how lucky I am! xoxo

8 Responses to “Genetic Testing Update”

  1. Liz June 27, 2012 at 12:33 pm #

    Yay for good news! Also, my placenta was in the same position when I was about 20 wks with Ella and it moved up as mt uterus grew, so no biggie 🙂

  2. Suzanne Marie June 27, 2012 at 1:07 pm #

    Hi Kate, With Bethany and my age at the time, they wanted me to have the amnio but I passed on it. She was fine of course. I had two normal deliveries previously but Bethany was a C-section because her heart rate went up towards the end. What was really weird was that as soon as they said surgery, I relaxed and must of had the epidural keeping me that way but I wasn’t really doing much with the pain suddenly. So they got me ready and wheeled me in there and my motherinlaw sat in a corner with a video camera. The anesthesiologist was to my left and Jim to my right. The dr starts the incision and OMG I feel it! 4 inch incision. I was moaning loudly which made the video get turned off unfortunately, and the dr state that what happened is an incomplete epidural as he glares at the anesthesia doctor. That guy holds up a needle and the spinal tube in place and says I can put you out. I said I wanted to be ‘present’ so I am pretty sure he gave me morphine judging the fun trippy drug state I was in. Then… make things interesting, Bethany has decided to deliver herself without any pushing! All my babies were over 8 pounds and took 20 some hours to process so this was a first. I went in there at 7 centimeters and some how was now 10 with a baby in the birth canal! So, not to be out done by her actions since he was called in by my dr to do this surgery, he told a nurse to get over here and push her back into the uterus! Ouch. So, after what might have been ten minutes total, he pulls her out and since I denied the amnio test, they check her out and see that I was right, God is going to bless me with a perfect baby. Then I looked into the prettiest almond shaped eyes while they sewed me up. I didn’t feel any of that. But, I do have to say…..recovering from a c-section is much easier than a vaginal delivery. You can walk and just hold a little pillow against your tummy. You can go to the bathroom without the fear of pain down there since they have to cut you and then some women tear. The pain after regular delivery can last a month. My c-section scar looked like a strand of blonde hair, no biggy. You do get a altered tummy, the way it sits after a c-section, but the baby is worth it 🙂

    • katej78 June 28, 2012 at 9:15 am #

      I would much rather have a natural, vaginal delivery, but I will be happy as long as I get a whole, living, healthy baby out of the deal, regardless!

      • Suzanne Marie June 28, 2012 at 9:28 am #

        I think Bethany could have been natural…she sure tried to be naturally delivered! 🙂 If you keep dog walking, delivering naturally would be easier. All the women I have come across did better if they walked a lot, health willing.

  3. Stacey June 27, 2012 at 5:44 pm #

    So glad to hear the good news! Keep it coming!


  1. If you want to make God laugh, tell him your plans. | Holy Crap, I'm Making a Person - November 12, 2012

    […] Genetic testing – the final chapter […]

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