After discovering the existence of the twins during week nine of my pregnancy, my obstetrician recommended several new (to me) prenatal screening procedures. When I agreed to have this screening done, she advised the scheduler in her office to make sure that her orders were coded “twins” and “AMA” for insurance purposes.
“AMA?” I thought. “That’s strange.” I had only ever heard that abbreviation used for the phrase “against medical advice.” You know, when a hospital patient on Grey’s Anatomy disappears, it usually turns out that they’ve checked out “AMA.” This time though, it meant Advanced Maternal Age. Old! My OB called me old!
Shocked, I sputtered, “You’re kidding. Advanced Maternal Age?” She advised me very matter-of-factly that, despite societal changes causing a trend towards older mothers, the biological facts remained the same. My ovaries and eggs were almost 35 years old. Old eggs. They didn’t get the memo that I still like low-rise jeans and indie music. That I still secretly watch The Real World and all the tattoo shows on TLC. Old moms don’t do that stuff, right? I’m young and cool. Right?
After the doctor convinced me that I was in fact considered “AMA” by the medical and health insurance world, at about 12 weeks along, I traipsed down to the perinatal clinic at the hospital to find out more about this screening. I met with a genetic counselor who asked me a lot of family and medical history questions and then explained how the two-part screening works.
First of all, this was not a screening for every conceivable problem with the babies. The first-trimester screening looks for evidence of Down Syndrome and trisomies 13 and 18, which are all chromosomal disorders which cause mental retardation and/or birth defects. The screening takes into account your age, your bloodwork and a very specialized ultrasound called a fetal nuchal translucency (NT) scan. All of those factors are considered in determining the probability that your baby will have a chromosomal disorder.
My NT scan itself was fairly normal. Same equipment, same images that I felt like I had seen a hundred times before. I got to see the babies again, just a few weeks after I first saw them as little flickering bean-shaped blobs. Now they actually looked like babies. The personnel were a little different – I had to go to a special office where a perinatalogist and a specially trained ultrasound technician took many, many different views of each baby. On each view, they painstakingly took measurements of the fluid (or clear space) under the skin at the back of each baby’s neck (this is the nuchal translucency).
Apparently, babies with chromosomal abnormalities usually accumulate more fluid in this space than most babies in the first trimester – so the measurements are used as an indicator in the screening. My husband and I let out huge sighs of relief when the doctor told us that, pending the final results from the bloodwork, he didn’t see anything to be concerned about. (And the final results concurred.)
The first trimester testing was followed up by the “quad screen” in the second trimester. This is done purely by bloodwork and looks for indicators of Down Syndrome, trisomy 18 and neural tube defects like spina bifida. For me, this bloodwork was analyzed in conjunction with my first trimester bloodwork as part of integrated two-part testing which has a much higher detection rate. I also had a test to see if I was a genetic carrier of cystic fibrosis. Thankfully, all of the tests and screens in my case were clear.
So, the big question facing you as a pregnant woman is whether or not to have the testing done. The biggest struggle for me was knowing that these were just screenings. They are not infallible. They aren’t actual diagnostic tests – they just give you statistical probabilities. They don’t catch every abnormality. Sometimes they’re false positive. And my husband and I decided that termination of a pregnancy was not an option for us regardless of the screening outcome.
Knowing all of that, I still chose to go through with the screenings. I believe if they didn’t have some value our doctors wouldn’t recommend them. We ultimately decided that we wanted to be able to prepare for a special needs child, physically, emotionally and medically, before he arrived.
If my screenings had shown a high likelihood of abnormality, we could have followed up with actual diagnostic testing, specifically an amniocentesis or chorionic villus sampling, to actually diagnose or rule out various disorders. I never had to get that far, thank God.
I’m a big believer in gathering as much information as you can about things and then making reasoned, informed decisions. For me, the decision on this genetic screening was pretty easy. For you, it may be more difficult – especially if you have doubts about continuing with a pregnancy based upon the outcome of the screening. Hard decisions, every one. But, you know, that’s exactly what being a parent is about – making informed choices despite the absence of “correct” answers, even when the decision is a hard one and hoping for the best. You’ll ultimately make the right decision for you.
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