I found out I was pregnant on November 21st, 2006. It is my first pregnancy. And I am a worrywart. I worry about everything. If there isn’t something to worry about, I’ll create something. The day I found out I was pregnant I started reading stuff online. Of course, my worrying eyes wandered toward the bit about genetic defects and other chromosomal problems and I became concerned. I began reading everything I could find about the testing offered to pregnant women. I have come a long way in three months.
As you read this, keep in mind that I am just a gal who is pregnant and who has undergone a few of these tests of her own. I am not a medical professional, nor did I study this stuff at a school. Instead, I merely wanted to try and write a fairly cohesive, “Genetic Testing for Dummies” type article so that someone (like me) might stumble upon it later instead of compiling information from 10 different people, 13 different pamphlets, 2 different forums, and 3 different doctors. I hope that it’s useful.
Genetic Blood Testing (Pre-Pregnancy)
In July of 2006, I visited the OBGYN to discuss getting pregnant. Upon walking into her office, all I knew was that in order to make a baby I had to avoid things like booze, cigarettes, crack, and any other harmful substances, maybe even caffeine. I had to eat well, sleep well, and, oh yeah, and get some sperm from a man. Six months later, I feel like someone slapped me with a pregnancy stick.
At the time of that visit, the nurse took 6 vials of blood. I had no idea that this was going to take place. But during this day and age, if you’re planning on getting pregnant, your doctor can test you for possible genetic predispositions before you even do so. They can test you for Tay-Sachs (TSD), Cystic Fibrosis (CF), Canavan Disease (CD), Blood Syndrome (BS), and many others. They can also find out things like, if you’ve had your measles vaccination (I found out mine had expired), whether or not you’re a carrier of toxoplasmosis (commonly found in cat feces and/or soil), and many other potential risks. It’s nice because you know what to expect. If you test positive for something like TSD or CF, your significant other can then come in for a test as well. It takes two carriers of the same disease to infect offspring. Since many of the genetic diseases they tested for are commonly found in Ashkenazi Jews, I was not in a high risk group, but they tested me anyway.
Things like toxoplasmosis aren’t dangerous to a person who isn’t pregnant, which is why some women who test positive for it have no idea they are carriers. They suggest that pregnant women who do not test positive for toxoplasmosis (like me) avoid gardening without gloves and dealing with cat litter as well (feces). The parasite is often found in carcasses and has been found in soil as well, hence the bit about gardening. That’s why outdoor cats are more susceptible to it than indoor kitties. My cats are indoor kitties and always have been. The chances of them being carriers are very slim but we decided not to take any chances. When I tested negative for the parasite, it was suggested that either Tobyjoe take over litter duty, or I take my cats to the vet and have each one of them tested for it. I opted to save hundreds of dollars that would have been spent on feline blood work and let Tobyjoe scoop the poop instead. (Awesome!)
Knocked Up! (Now what?)
And then we got pregnant and I was surprised because we got pregnant on our very first try (which wasn’t really a try as much as it was I had decided that I was no longer ovulating and we could be “sloppy” about it. Little did I know…) I didn’t expect it to happen then. Plus, I had already decided that we wouldn’t actually start trying until March. I mean, who wants to be 9 months pregnant in New York City in August? Not me! But it looks like nature had other plans for me. While it wasn’t actually a surprise for us, per se, it was a bit of a reality slap. We just didn’t think it’d be that easy.
After I got pregnant, I called my doctor to make an appointment. They usually don’t take a pregnant woman until at least week 8. My first appointment was around 7.5 weeks, which was still a little early. At that time they took another 8 vials of blood, (just to make sure nothing was off the charts or anything and, I’m guessing, to use it for comparison later when I’m further along). They also gave me an internal sonogram. (Device shown here. Thank you, Tobyjoe!) We were able to see the heart beating for the first time, (which is the first organ to form), check the size of the little dude, and make sure its arm buds, leg buds, and head were there. It was a pretty outstanding experience, to say the least.
It was at that time we began talking more about genetic disorders and testing and I made two more doctor’s appointments. I made an appointment with my regular OBGYN for week 11.5, and one at the specialist the very same day for a relatively new procedure called an Ultra-Screen. (I’ll get to that momentarily.) My doctor told me the usual: stay away from seafood as much as possible (there are safe fish and shellfish one can eat, see here to find out which ones), do not eat smoked fish, deli meats, soft, European cheeses, or rare meats. (Shellfish and seafood due to mercury levels and the rest because of the bacteria known as listeria. Both are harmful for an unborn baby.)
The Ultra-Screen (Weeks 11 – 13)
The Ultra-Screen is a relatively new proceedure (2 years or so). The awesome thing about the Ultra-Screen is that it’s the only noninvasive genetic test that can be done during the first trimester (between 11 weeks 1 day, and 13 weeks 6 days). This test gives a woman her chances on having a baby with Trisomy 21 (Down Syndrome) and Trisomy 18 and 13 (a more severe chromosomal disorder, which causes retardation and severe birth defects.) The Ultra-Screen combines an advanced ultrasound with a blood test. The ultrasound alone has a 90% accuracy rate, when that’s paired with the blood work that rate rises. (I believe it rises to 94% at that point, but don’t quote me on that.) During the ultrasound, the specialist measures the thickness of the fetus’s nuchal translucency, which is the clear, translucent space on the back of the developing baby’s neck. (Crazy, what they can do in this day an age, what they’ve come to know.) The doctor performing the ultrasound might give you an idea of how things look right away, because he or she is trained specifically for that, but usually they wait for your blood work to come back (which takes anywhere from 5 to 7 days).
The blood specimen is analyzed for two chemicals called free Beta human chorionic gonadotrapin (free Beta) and pregnancy associated plasma protein-A (PAPP-A). Both are normally found in all pregnant women but the rates are different for women who are possibly carrying a fetus with either of the two chromosomal defects.
My doctor gave me two numbers. She gave me the number after the ultrasound, and then another number after the blood work. For example, say the first number was 1/454 after the ultrasound, after the blood work comes back that number might jump up to 1/1,430. That means that particular woman has a 1 in 1,430 chance of having a baby with the chromosomal defects listed above.
If a woman’s Ultra-Screen and blood work comes back indicating an increased risk for chromosomal abnormalities, more tests may be suggested. And there are several to choose from should a woman wish to find our more. (Remember, even a woman who gets a number like 1/22 has a 95% chance that the baby is OK. This is something to keep in mind)
The QUAD Screen (Weeks 16 – 18)
The QUAD screen is another noninvasive blood screen offered between week 16 and 18. It looks for four specific substances: AFP, hCG, Estriol, and Inhibin-A.
- AFP: alpha-fetoprotein is a protein that is produced by the fetus
- hCG: human chorionic gonadotropin is a hormone produced within the placenta
- Estriol: estriol is an estrogen produced by both the fetus and the placenta
- Inhibin-A: inhibin-A is a protein produced by the placenta and ovaries
This test takes about 5 minutes. I am going to have this test because it is covered by my insurance and it’s offered at my regular doctor’s office. I have read that this test has had some false positives, which pretty much means that some women may take steps further and don’t need to. But I figure it this way: when I’m all said and done, having both the results from both the Ultra-Screen and the Quad, I’ll have a really good idea of whether or not there are any chromosomal problems with my baby. Based on the results from the Ultra-Screen alone, I have all but cancelled my appointment with the genetic counselor that would have performed the Amniocentesis.
Amniocentesis (Weeks 15 – 20)
Based the results the two tests above, a woman can decide whether or not to continue with an Amniocentesis. The Amniocentesis is a more invasive test. It is done between 15 and 20 weeks. However, it will give a woman a 99% accuracy rate on whether or not her fetus has a genetic chromosomal disorder.
Using an ultrasound as a guide, the doctor will insert a long, thin needle into the woman’s abdomen and a sample of amniotic fluid is taken from the fluid that surrounds the baby in the uterus. This test, while extremely accurate, does carry the risk of a miscarriage. It is suggested that a woman ask the specialist how many her or she performs a week. For example, here in New York, where the average age of women having babies is around 35, the doctor who would have performed mine does hundreds a week. That made me rest easier when I was toying with the idea of having it done.
Most insurance companies will pay for this test if the previous test (or tests) showed an elevated risk of a chromosomal defect or if a woman is over the age of 35.
The Magic Age: 35!
Why age 35 is the magic number, still remains totally baffling to me. Consider this: most babies born with Down syndrome are born to women under 35. They say that’s because more woman under that age are actually having babies, that’s probably true. But there is no reason that I can see, why women above age 35 should get themselves worked up. I know there’s a reason for this statistic, but it irks me a bit that 35 becomes that daunting cutoff age. It really scares the crap out of us older ladies. Here in New York City the mean is a lot higher than the rest of the U.S., so, if you’re 35 and you’re tired of being told “You better hurry up! Time is ticking!” Might I suggest a move to the Big Apple? My doctor hushed me immediately when I told her I wanted to hurry up and have a baby before I was too old. I was 32 at the time. She said, “You’re considered young in New York City to be having a baby. Don’t be silly. You can have three more if you want to.”
She’s 42 and had her second a few years ago.
CVS (Weeks 10 – 12)
There is another test that I don’t know a whole bunch about but I do know the basics. There is something called the Chorionic villus sampling (or CVS). This test can be done relatively early (10 – 12 weeks, and I remember reading as early as 8 somewhere, although, I don’t remember where). CVS does have its side effects. As with the Amnio, an ultrasound is used to guide the doctor and a tube is inserted into the vagina and cervix to take a small sample of tissue from the outside sac where the baby grows. Sound scary? Yeah, scared me, too. But I know people who have had it done and it can be perfectly safe. It’s best to ask the doctor how many he or she has done in the past.
That’s About All
Well, I guess it’s time to wrap this baby up. (ha!) Remember, I am just a recently impregnated gal (13 weeks at the time this was written) who wanted to enjoy her pregnancy and was having trouble doing so without some sort of reassurance that her fetus was healthy. I did some research, asked a lot of questions, and worried myself silly and this is what I came up with: a whole bunch of information. What good is information if you can’t pass it along?
Take this information for what it’s worth. And remember to ask yourself what you would do with the results. Would you terminate the pregnancy? Would it not matter at all? Would you rather know in order to prepare yourself if your baby is born with a problem? These are questions that each individual needs to ask. And I’m really quite happy we live in a country where women are given choices based on whatever their answer is.
Feel free to ask questions and/or start discussions. One thing that scared me a bit and made me feel lonely at the beginning of my pregnancy, before anyone really knew about it, was that so many online forums seemed to beat to the rhythm of religion and not so much to one of science. Questions were asked and answered with great care, but no one was talking about the giant elephant in the room. No one really talked about the idea of terminating a pregnancy if the fetus was in danger or had a chromosomal defect. I know that many men and women think about it, I know this because of actual conversations I have had with some of the men and women in my life. But online things are a bit different so if you’re one to search for answers on the Internet like I did, you might feel a little lonely out there. All too often I saw women online praying for one another. Don’t get me wrong, prayer has its place. Faith is a powerful thing. Prayer is as well. But I grew more and more trusting of science as the days went on. I began to rely heavily on science. I put a lot of faith in my doctors and their ability to help me get through the early stages, before I knew what was really going on.
Three months later, I’m still worried about everything yet to come, but at least now I know I am not alone.
Mihow 
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