Nuchal Translucency Screening

Optional testing during pregnancy is something that wasn't offered when I was pregnant with Dylan in 2000 and Justin in 2002/3. Or, maybe it was, but since I was far from "Advanced Maternal Age" at that point, it probably wouldn't have been a consideration. But things are different now. Since my eggs were harvested when I was 36, an old lady by obstetric standards, our resulting embryos had a much higher chance of chromosomal abnormalities, such as Down Syndrome. At that point, PGD testing was offered to us to check the embryos for a variety of issues, including Down Syndrome, so we agreed without hesitation. It turned out that, out of the 16 embryos that resulted after fertilization with Jimmi's sperm, only two of them appeared to have too many chromosomes and weren't considered to be "normal." The remaining 14 were left to grow for five days before being stored in the lab for our future use, but only 12 presumably healthy babies made it to the freezing stage. And the PGD also told us one more secret: we were blessed with an even split of six boys and six girls. 

It's now two and a half years later and Lyndsay is 13 weeks pregnant with our baby. During our discussions with her doctors, optional first trimester screening involving an ultrasound and a blood test to check for Down Syndrome and other problems had been mentioned, but I didn't think we needed to worry about any of that since we had already ruled those abnormalities out immediately after fertilization. But my Skype call with Dr. C last week sent up a small red flag and I felt we needed further investigation. He mentioned a type of Down Syndrome called Mosaicism that happens in the 8-cell stage, which is after the PGD would've been performed. There's only a 1 in 50,000 chance of that actually happening, but we all know how well I do with small odds. Jimmi and I decided we needed to a deeper look into the health of our growing baby, and we needed to do it before the end of the fist trimester. Two issues immediately arose after the decision to test was made. First, I needed to ask Lyndsay to rearrange her schedule and rush in for an ultrasound before the end of next week. The second issue was the blood test. Because Lyndsay had initially been pregnant with triplets that had spontaneously reduced themselves to a singleton, the blood test was out of the question. Any residual matter from the perished twins could throw all the numbers off and cause unnecessary worry. So we were left with the specialized ultrasound, called a Nuchal Translucency Screening, as our only option. The Nuchal Translucency Screening is a test that measures the amount of fluid behind the baby's neck. Too much fluid can indicate a problem. During the scan they also check the presence of the baby's nasal bone. If the bone isn't there, the baby will most likely have Down Syndrome. Generally, if either or both of these checks are off, the blood test will give the doctors additional information to confirm abnormalities. We had to hope extra hard for a normal scan because the only other test we'd be able to do in our situation would be an amniocentesis, and I would not feel comfortable having a giant needle stuck into Lyndsay's abdomen to pull out fluid from the amniotic sac. 

So the schedule juggling began and Dr. C was able to squeeze Lyndsay in on Thursday morning. He made it clear that he may not be available to Skype Jimmi and me from the appointment because of a double-booking, and that was totally understandable, but we'd be online just in case. We only had two days to wait, but I was becoming very nervous. Then Lyndsay texted me a question that, surprisingly, I hadn't even thought about until I read her words: 

"So what's the plan if the results aren't what you hope they'll be?" 

Ummm...I have no idea. What is the plan? What if our baby has Down Syndrome? What will we do?

At that exact moment the cosmic forces of the Universe stepped in and a suggested video popped up on my computer screen. "This Guy Writes a Confession Letter to His Daughter with Down Syndrome That Will Break Your Heart in 100 Ways." I had to click it. Over the next 14 minutes or so, I watched as this self-proclaimed "perfect" man with a "perfect" life told his story. After marrying the love of his life and having a "perfect" daughter, they were expecting their second child. The man was horrified to find out that his unborn daughter would have Down Syndrome. How could his child not be perfect? He described his thoughts about having a "broken baby." He urged his wife to abort but she refused. He immediately thought that people would judge him and assume he was at fault for his daughter's problems and then they'd know he wasn't perfect either. When the baby was born he took care of her, just as he'd done with his first, but he just couldn't find a way to bond with an imperfect child. And then, when she was about 6 months old, something changed. The man was kissing his baby's belly and she started giggling and pushing his face away, just like a "normal" baby would. That was the moment he fell in love with his baby girl. From that day on he made it his mission to bring awareness to Down Syndrome and his amazing little girl. He started running marathons with her in a stroller, and continued that practice for five years until he'd reached his mileage goal, then decided he didn't to "push" her anymore because she was able to stand on her own. Ah, the symbolism! After realizing the mistakes he'd made in his initial thoughts about not even wanting his baby to be born, he wrote her a confession letter explaining how sorry he was. Obviously, she hasn't read it, but maybe one day she will.

I finished watching the video, wiped away a few tears and texted Lyndsay back. "The plan isn't to abort if something is wrong. It's to know as far in advance as possible so we can do whatever we might need to do to be prepared."

Finally, Thursday was here. Jimmi and I waited by the computer, hoping Dr. C would be able to sneak into the ultrasound room with his laptop to Skype us, but I wasn't hopeful. Then the ringing from my computer announced that I was wrong and I quickly accepted the call. "Hello!" I sang out as the picture on the screen showed a technician in front of an ultrasound monitor. "Can you see?" the doctor asked as he shifted his laptop around a bit. "Yes," I answered. We could see, but because we were watching a video of a video, it wasn't totally clear. "Here's your baby," said the technician. "He's moving around a lot!" I smiled and ignored her incorrect gender pronoun. After all, it was too early to see the baby's sex in an ultrasound and she had no idea we had only transferred female embryos. We saw our little girl waving her hands and kicking her legs. "Looks like you might have a thumb-sucker here," said the tech as our baby's hand went to her mouth. "She's measuring twelve weeks and six days," she said, which meant the baby was still two days larger than her actual age, which is totally fine. "Ok, so we're gonna look at the fluid behind the baby's neck now," the tech explained and she scanned back and forth over Lyndsay's growing abdomen. After a few tries she said, "This child of yours is not behaving! In order to do this he really needs to hold still for a minute so I can get a good profile shot." Yup. She's her father's daughter! "There it is," said the tech as the baby chilled out long enough for a photo op. A few clicks of the machine and we heard, "The measurement I'm getting looks perfect." My smile masked the tears in my eyes as I waited for the next result I was waiting for. "Now we're going to look at the baby's nose," she continued. "And there's a very obvious nasal bone right there." Did I hear that correctly? "So, she's ok?" I asked hoping I wasn't mistaken. "Everything looks great right now," she confirmed and I allowed myself to breathe again.

We're 1/3 of the way to the finish line now. Keep growing, Baby A!