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The Nuchal Translucency: Finally, Some News

Melanie at Parenting.com

12w,5d. Sorry for the radio silence—it’s been a busy week. My 5-year-old, Ben, and I headed down to Mexico for work (yes, I know—tough life) for the past several days, staying at the Aventura Cove Palace (soon to be the Hard Rock Hotel Riviera Maya in early 2013). Ben got busy sharing the pregnancy news with anyone who spoke English—especially the bartenders there. “I’d like two piña coladas with no alcohol, por favor; one for me ‘cause I’m five and one for my mom ‘cause she’s pregnant,” he’d pipe up from his stool at the swim-up bar. Not that I minded before—but I really felt OK with his sharing the news throughout the trip because we hit a big milestone: having the nuchal translucency last Monday.

While I know plenty of folks choose not to undergo any kind of prenatal testing, when it comes to our family, I’ve felt strongly about the importance of knowing what we could in advance. Several years ago, when I told my OB-GYN that my husband and I were thinking about starting a family, he immediately offered genetic testing. We had it done and learned that I’m a carrier for cystic fibrosis, something that took me by surprise, given that I had no known family history of CF. Given how serious CF is, my husband was tested as well and luckily was found not to be a carrier. But, in the time between learning that I was a carrier and he wasn’t one, we did a lot of thinking about what the risks were of trying to have a baby (if both parents carry the CF gene, there’s a 1 in 4 chance that their child will have CF, a 50/50 chance that the child will be a carrier, and a 1 in 4 chance that the baby won’t be affected at all by CF). Fortunately, the worst that can happen to one of our kids is that they’ll be a CF carrier—but they’d need to inherit the gene from both of us to actually have CF.

In past pregnancies, I’ve opted for the nuchal translucency (this time—and maybe in the past as well—as part of the first trimester combined screening, so there’s blood work in addition to the ultrasound) to help determine our risk of this particular baby having trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome, which causes severe mental retardation and is often fatal by age 1) or trisomy 13 (Patau syndrome, which often causes congenital heart disease), the expanded AFP test and, of course, the glucose test (for gestational diabetes), but not the more invasive chorionic villus sampling (CVS) or amniocentesis (the latter two simply because we felt reassured enough by the results of the NT, and I'm not yet considered to be of "advanced maternal age"). 

I tried really hard this time around to not think about the possible outcomes before we knew anything—because I firmly believe in a woman’s right to choose (let’s be respectful of all views here, please), and while some people would welcome a baby regardless of health, I think that it would be incredibly difficult for me to continue with a pregnancy that I knew had a severe chromosomal defect—specifically one that would mean an incredibly short and potentially painful life for the child. And now, having two children at home already—well, I feel like we owe it to them to continue to give them as much love as we do now, to protect them from what suffering we can… As I’ve mentioned before, my children—particularly my 5-year-old—are familiar with death, given that I lost my mom almost three years ago. And as terribly sad and painful that loss was, well, my mom was 71 when she died, and I expected to outlive her. I can’t imagine how painful it would be to lose a child—not just for my husband and me, but how painful it would be for our sons to lose a sibling. Luckily, we didn’t have to think any further about our choices or more invasive testing, as everything looked healthy on the ultrasound and the blood work came back to confirm that everything looked good. Phew. My husband and I were elated, to say the least. Although, as a side note, I was mildly terrified that something was horrifically wrong during the ultrasound, as the technician offered virtually no information other than a solemn frown, and when the doctor came in the room to actually give us some news, he was wearing an equally grim face. I guess they just try not to show much emotion regardless of the findings?

Did you have any prenatal testing done? If so, which tests?

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