Genetic Testing During the First and Second Trimester. (Simply Put.)

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.

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  1. If you are negative for toxoplasmosis, you also need to be careful about eating raw fruits and vegetables…since it is something that is carried by dirt, you need to make sure the fruits and vegetables are cleaned very very well or cooked (which would kill the toxo). When I was pregnant last year, I was constantly worried about it. I would peel apples, quadruple wash any salad greens that were already in a “pre-washed” bag, and in general I would tend to avoid eating salads in restaurants.

    Also, about the cheese. You CAN eat soft cheeses or “European” cheeses, as long as they are pasteurized. The important thing is to avoid any raw-milk cheese, which can be soft or hard or American or French. This was good news to me because I love love love cheese, especially kinds like Brie and Camembert, and it is possible to find pasteurized Brie. There’s a brand called President from France – they’re kind of like the Kraft of France – that makes pasteurized Brie and Camembert, and they are both very good.


  2. This is why I want to encourage people to comment. Thank you for that information, Lowy.

    Thank you, thank you, thank you.

    I love cheese as well. And I had NO idea about the fruit but it makes so much sense. One can never be too careful.


  3. This is awesome. I have no idea if I will ever need this information, but it’s awesome of you to put it out there. Well done!


  4. Yes, thanks for putting this information out there!
    And the 35 thing is so true – my OB-GYN says the exact same thing.


  5. Wow…that’s a lot of testing! The only one I was offered was the triple-screen (possibly like your Quad-screen?), but I decline it. I am a wee bit younger than you though, so maybe that is why.

    I just thought of one more they will test you about week 36, they do a Group B Strep swab in both lower openings! At least they do in Canada, I’m pretty sure they would in the USA also. Then when you go into labour they will know if they have to pump you full of antibiotics so your baby doesn’t get the GBS or not.. lucky me, I was negative for GBS.

    About the deli meats-my OB told me that as long as I bought them from a reputable big chain grocery store, not a corner grocery store, then deli meats were fine if I ate them fresh, and didn’t leave them out of the fridge for ages. But do what YOUR dr. says, not mine!

    My big thing I missed when I was preggo was the rare steak. It’s just not steak to me if I have to eat it well-done. That is one of the first things I ate when I came home from the hospital!


    ps. I’m enjoying your journey too! and how ever did you keep from telling anyone for three months?? I told everyone I was pregnant the day after I peed on the stick and got a + sign.


  6. Man, my own freaking Web site just lost an entire comment of mine. That’s so annoying.

    not sure I want to rewrite it I’m so annoyed.

    The gist was, I had no idea about that GBS test. That’s insane. I guess by then I’ll be so ready for anything, however, it won’t be a big deal? (I hope.)

    I said something about not eating beef because since falling off the veggie wagon, I haven’t gone there yet. And craving pork, which I haven’t really dove into yet. I said something about wanting bacon. :]

    Maybe the testing is offered more to women in certain areas? I don’t know. And, yes, the test you were offered is virtually the same thing as the Quad.


  7. Yeah, I feel the same way about women who get all worked up about their age and having to have kids before 35. My cousin had her first at 36, her second at 38 and now is having her third (maybe already had it since she was due this month or the next) at 39 or 40. Can’t remember the age exactly, just know she is close to 40 now.

    I’m 28 now and I do want kids. I just know I won’t be having any before I hit 30 so it is always refreshing to hear about women who waited. It is so hard right now as most married couples around me seem to be procreating left and right. It does begin to make a woman my age feel a little anxious….like I’m SUPPOSE to be doing the same thing considering I’m still in my 20’s.

    Anyway. Kudos to anyone who waits beyond 35 to have their first baby:)


  8. Nice post Mihow! I love reading all about the whole pregnancy stuff. I guess that is why I am completing a masters of public health (MPH) with a concentration on Maternal and Child health…..
    anyway, I had my first pregnancy when I was 30 and my second at 35. I was told by my OB during my second that I really had nothing to worry about. I did end up doing the Ultra-screen thing. I was kinda freaked out by doing it as I didn’t have to do any extra testing with my first daughter. I knew that I didn’t have anything to worry about but still there was that one little bit lingering in the back of my head…a kind of what if the tests doin’t come out right… honestly I have no idea what we would have done if something didn’t come out right…
    It is kinda funny though, of all the moms I know out here in San Fran I am probably one of the the youngest. Most of the moms from Isabel’s school are in their late 30’s if not 40’s who have 5 year olds or ones even younger!


  9. Wendy-

    Regarding this sentence:

    “About the deli meats-my OB told me that as long as I bought them from a reputable big chain grocery store, not a corner grocery store, then deli meats were fine if I ate them fresh, and didn’t leave them out of the fridge for ages.”

    I think you should get a new OB. That is by and large the worst advice and dumbest thing a doctor can say. A big chain grocery is no more likley to be more sanitary , fresh or hygenic than a corner grocery.

    Michele –

    You should have toby do some search engine optimizaiton for this post. Its much more informative and better written than anything wikipedia could put out.


  10. I had my baby in Spain. They did do the GBS test as well near the end of my pregnancy – I can’t remember now if it was week 36 or a bit later. Also, I had blood tests each trimester, so they could check on the usual things like red/white blood cell count, iron level, protein in urine, etc.

    Mid-pregnancy (I think) I also had a glucose test for gestational diabetes. In Spain it is standard to do it for all women no matter if you are overweight or not. A friend in the States who recently had a baby had to ask for it. Anyway, this, along with the other blood tests, didn’t bother me since they are non-invasive (if you consider getting blood taken out of you non-invasive!) and I wanted the information.

    I also had a very long ultrasound at week 20, which I think is standard everywhere. At that point, they can check in more detail for potential defects or problems with the baby or the placenta or your uterus. They will see if there are 4 chambers in the heart and so on. I think it lasted almost 45 minutes.


  11. Jonathan, in defense of what Wendy wrote, we have it different here in NYC. Sometime, I think we’re spoiled. I would not, say, purchase deli meat from the local Uni Mart in State College, PA but I would probably trust it from Wegmans. Then again, I don’t eat deli meat, so who knows.

    I dunno. Just a thought. I think Wendy lives in Canada, things could be different.

    I do have an ultrasound scheduled for week 20, Lowy. They told me I had to not pee for at least an hour before. I also have to drink at least 20 ounces of water. That worries me greatly. :] I can’t seem to go much longer than one hour without peeing.

    I also have some diabetes type testing much later on. IS that the glucose one you mentioned above?

    Thanks for the comments.


  12. I don’t trust chains. Chains do 2 things that really stick out to me:

    a- They’re about profits. When you have a local grocer, they’re about relations. You know your grocer, and they’re semi involved in the neighborhood or community—they work and possibly live there. When you use a chain, you don’t know them. They’re in the business of the bottom line.

    b- Go to a local grocer, you’ll see employees as friends/family of the owners. There’s some amount of respect in both directions. Go to a chain, you see high school kids playing catch with the food as they unpack it or serve food at the deli section. Its a nameless minimum wage or union job where you can’t-get-fired vs. people working in small groups where they’re actually accountable.

    I’ve seen that not just in New York, but california, england, washington, france, etc. Its just the mentality of people working in small vs large places.

    Michele- did you get my message about knitting circles?


  13. Well, Wendy said reputable food chains. I find Whole Foods to be very reputable. They’re a chain. So I guess it depends on the person and the chain. Also, I find the employees at Whole Foods quite happy and helpful most of the time. The guy at the deli across the street? No freaking way. Plus, crackheads hang out outside and drunks hang inside, that place scares me. I know they’re not all like that, but so many seem to scream “We change the expiration date on our milk!”

    I avoid places like Key Foods, Met, etc. I am lucky I have the cash to afford places like Whole Foods and Fresh Direct, that’s for sure. :[


  14. Whole Foods is very atypical- its a liberal health oriented chain thats trying to compete with local gourmet and health grocers. I think every other chain in NYC ( there’s also d’ag, food emporium, etc), even the nicer ones , is pretty ‘rank’ and dirty—and far more typical of what you find thoughout the world.

    Why are we talking about this though.

    Babies. Babies. Babies.

    Rhymes with rabies, but not as scary.


  15. Question: How much does the amniocintesis cost if insurance doesn’t cover it?


  16. Yes, enough about where to buy ones deli meats.

    I am told the amnio runs about 1,000 dollars but I don’t know if that’s right.


  17. Yes, the glucose thing is for gestational diabetes. You have to drink a glucose solution and then get your blood drawn about 1 hour later.

    I remember having to drink the water and not pee before the 20 week scan. It was horrible and painful to hold it for that long – especially when you’re pregnant. Luckily about halfway during my scan the technician told me that I could pee a little to let some of it out. I really think I might have burst – or more accurately peed my pants – if it hadn’t been for that!


  18. Jonathan, thank you for the advice, but my OB was just fine, and my son was born just fine. I do see the point in her advice-our corner store sells deli meats, but the expiry dates have often passed, while the huge chains sell their stock so quickly, it is much fresher. Anyhow..this is not about me, this is about Mihow!

    Mihow, the GBS test is very quick and painless and just involves a Q tip basically. Don’t worry about that one at all!

    I forgot about the gest. diabetes test. I believe it is given to most if not all pregnant women in Canada at about 28 weeks. I was given a bottle of orange pop to drink (basically), then had to wait an hour, and they took a vial of blood. If my glucose levels were too high, then I would have been sent for the 3 hour fasting test.

    My OB also told me..shhh..don’t tell, that I only needed to drink half the water required for the ultrasound, so only 2 cups instead of 4 cups. I’m not sure how many ounces that is. But I still thought I would explode when they pushed the U/S wand over my abdomen!


  19. No no no! This isn’t about me at all. :] But thank you, Wendy.

    Hey, I just wanted to write to say that I have received several emails asking about the preblood testing. A few people wonder if it’s going overboard, if it’s being too over-the-top. To be honest, I have no idea. I went ahead and did it because it was covered by insurance and I figured that it couldn’t hurt.

    Now, hopefully I don’t step on any toes here, but could this be specific to NYC because the Jewish population is so large here? Is this blood testing thing common elsewhere? Obviously, I only know what takes place here in NYC. So if anyone has anything they would like to add to this, I would be really grateful. I am not sure what to write back to folks when they send me email. The more and more I get the more and more I’m worried I am giving out shitty information. :[

    Help me?


  20. “I opted to save hundreds of dollars that would have been spent on feline blood work and let Tobyjoe scoop the poop instead. (Awesome!)”

    Well hey…even I consider that awesome!


  21. i suppose you’re mostly happy about not having to clean the poop. i almost think the pain of childbirth is less torturous than 9 months of scooping poop for the sperm donor.


  22. Thanks for writing this. Just recently I decided that I might want to have a baby, someday. I have not done research or anything. And my family as well as his thinks it is too late, even though his sister just got pregnant at 43, and my sister in law had one of my nieces when she was 44.

    I’m going to be 40 in May. I’m not panicked, but I know I have to decide soon.


  23. Thanks so much for all the information about the ultra-screen. I am 12 weeks pregnant. I have mine scheduled for tomorrow and was in two minds about whether or not I should be getting it done. I have friends with babies who only did amniocentesis and no ultrascreen. It was very helpful to learn that ultra-screen is a relatively new procedure and that’s probably the reason why some of my friends didn’t get it done.


  24. Yes, there are plenty of post-35 women who have had successful and uneventful pregnancies. That is not to say you don’t take a risk when you leave it later. I always thought I had plenty of time. Although no-one can ever tell me whether the fetal abnormalities I had in my first pregnancy were related to my age, I will never know.

    With respect to CVS, it may also be done through the abdomen—it depends on where the placenta is placed in the uterus. Also, results for CVS and amnio both take at least a week or two to get a FULL set of results. The FISH results are a limited but faster test for four chromosomes only.


  25. it was good to hear the the Dr. in New York felt that being 35 was not that big of a deal. I was 38 when I fist got pregnant and I miscarried at the end of my first trimester. I am not 40 and was seeking treatment at a fertility clinic. I found out I was pregnant on Easter Sunday and I didn’t even get the chance to start the fertility medicine. I am 6 weeks and before I found out I had went out with the girls the week before I had 2 MRI’s done for back pain. I didn’t expect to get pregnant because we had tried for over a year and was being treated by the fertility specialist. Who mentioned that our chances were quite slim. I am very concerned about genetic testing. As every woman does, I hope for a healthy baby. It is hard not to worry. If anyone has any comforting feedback I would greatly appreciate it.

    Thank you.


  26. Karen, the key is to relax. :] I know, easier said than done. I worried myself sick throughout my first trimester especially about having a healthy baby. I put my mind at ease using the tests that were offered to me. (I highly recommend the noninvasive testing if you’re at all concerned and want to enjoy you pregnancy. It did wonders for my state of mind. If there is any cause to alarm, then you can decide if the CVS or the amnio is right for you.)

    Relax and enjoy it. I am so happy to hear you are pregnant and without having to use the fertility medicine, that’s great news! I wish you the best. If you want to chat more personally about anything, feel free to write me an email at the one listed at the top right hand side of this page.


  27. I had the first trimester screen and things looked really good—a 1/400 for Downs (I’ll be 39 when the baby is born) and a great ultrasound (did this in a major city’s reputable hospital). I was 16 wks last week and had the quad screen at a local hospital. Got a call- my risk ration is 1/5 now! What on earth?! A few OB/GYNs that I know (not my own)said they never would’ve advised me to have the second trimester screen. Now, I’m a mess and have to go for another ultrasound in a week (back to the big hospital). Advice? Thoughts? From the research I’ve done, the baby will most likely not have Downs because of the false/positives that can occur in the second test, plus that ratio is a huge jump—pretty bizarre.


  28. NYC: They did tell you that the Quad is notorious for giving out false positives, right? Not that what they gave you was a false positive by any means but I wanted to remind you of that. Also, remember that you were given an 80% chance that the baby is A-OK. I would sit reassured, my friend. The Ultrascreen is so incredible these days, I would be more apt to play attention to those numbers over the ones you received during the Ultrasound. :] I hope that helps a bit. And CONGRATULATIONS! Such great news for you!


  29. Hi, great website. I will be 41 next month. I have a 15 year old daughter and have dealt with the disappointment of undiagnosed secondary infertility since 1991. We chose to undergo no treatment, whatever God wants is what we will have. My husband and I were finally ok with just having 1 who was getting prepared for driving and thinking about college… Lo and behold, March 16 the pregnancy stick reads positive. I am now 10 weeks pregnant and on the fence of being totally freaked out and absolutely thrilled. True, this is a fresh start in our lives, as one leaves the nest another starts their life. It gives us something to concentrate on for the next 19 or 20 years….

    I have no reason to believe anything will be wrong, so far this is just like it was 15 years ago. But I am starting out about 30 pounds heavier and that isn’t all that great. But Jenny Craig will be waiting for me after Christmas, so that takes care of that.

    I do not know if I should take the Amnio or CVS. I am quite sure it would make no difference in my decision. I’m Catholic, so it’s no question.

    But part of me tells me to do it just to be sure. Or to be prepared. I don’t know.

    What have other people done. Anyone have a similiar experience? I’d love to chat with anyone who is in the same boat as me. Or at least a similar boat….

    Due date – November 12.

    : )


  30. Piedmont: Not sure if you’ll see this as I’m writing you back rather late.

    First of all, congratulations on your pregnancy. Unplanned or not, what amazing news. You’re going to have another baby. That’s awesome news.

    Also, I was raised catholic. I am no longer practicing, and I don’t presume to know what the catholic church would say on the matter, however, I don’t think that your having two tests done, which are totally safe and completely noninvasive, would be considered sinful in anyway, especially since you already have your mind made up about the information you may attain. I can’t imagine that the catholic church would mind your preparing yourself. As far as I’m concerned an ultrascreen is nothing more than another ultrasound. You’re having an ultrasound, right?

    Also, knowing that your baby is healthy is a relief for mama. And if your baby has DS, that’s not something to be upset about either. And if you know in advance, well, you can plan better for when your baby is born. When I found out I was going to have a boy, I started to do as much research as possible so I know how to raise a little boy. I felt that I could understand a little girl, but a boy? Wow. Anyway, finding out a little more about your little person prior his or her arrival doesn’t seem at all sinful to me. In fact, I think it might make your life and his or her life easier when the time comes that the two you meet.

    For what it’s worth. :]

    Anyway, congrats again. Feel free to email me if you want to chat off line as well.


  31. I had my ultrascreen and even though it looked good, I did the amnio. Got the results—it doesn’t appear that he has Downs. The genetics counselor said that the Quad isn’t recommended when you have a good 1st trimester screen. Wish my doctor had told me that…!


  32. Congrats! I’m so happy to hear everything looks good. now you can properly relax for the rest of your pregnancy!


  33. Congratulations!

    It is certainly an experience of a lifetime and one that I would not be without!

    I have 5 boys between 10 and 2 and they are all lovely.

    Age is a funny thing. I dont feel old and I considered myself a bit of a pro with 5 healthy babies behind me.

    On number 5 I had adverse clinical indications as the baby’s growth was slow in the first 12 weeks which I am told is highly unusual and indicative of likely miscarriage or genetic defect. So I stressed from week 9 to week 17 about all possibilities and had decided that come what may I would have that child whether the amnio showed genetic defect or not. I prayed for all I was worth to St Rita to help me and my baby. It seems that I was heard and amnio showed my baby was fine.

    Maybe I got greedy but I love my big family and motherhood and anyway I became pregnant 9 months after the birth of number 5. I was 38 at the time. Unlike with my fifth everything looked well on ultrasound and although I felt somewhat more ambivalent to this pregnancy, I was encouraged and relatively unstressed that anything was wrong. I did not have the usual nuchal fold screen etc as my obgyn (rightly) said I needed to know this baby was ok given that I had 5 others and that I should just have an amnio. My fear of amnios had been cured from my experience the previous time and I saw this as just a “cross it off the list” procedure rather than a life altering one.

    I got the phone call at football training the day after my amnio telling me that the baby had Downs Syndrome. I was unprepared and numb. My partner was angry at me and blamed me for it. He was strongly of the view that I should not have the baby as it was not fair on our family. He said he could not cope with an intellectually disabled child and that he would financially support me if I chose to have the baby but that he would move out. I agonised but in the end I felt there was not enough of me to go around to be a single parent with 5 children plus 1 disabled child, and felt that my children would bear the ultimate responsiblity to take care of this child when I was old. There was so little time to adjust to the shock of the news and the haste that was required for the decision. I am Catholic and consider myself anti-abortion. I nonetheless had a termination of pregnancy by induction. I held my baby and we buried him. And I have lied about the whole thing since to my children, to my family and to my friends. I find it impossible to believe I made the right decision and I am still overwhelmed by grief (that I dont feel I deserve to feel)and by guilt and by shame. My partner believes it was the best decision for our family. I have emotionally left my relationship and to some degree my children and my life as a result. Overwhelmingly I feel alone and saddened by what my life has become. I dont think anyone faced with these circumstances would feel there is a good decision to be made. I am not sure if the testing has ultimately made my life better or worse.

    I have learnt not to take things for granted. I have not learnt how to move beyond the experience of ending my pregnancy.

    I am sure that your baby will be your blessing and joy and I wish you all the best with the rest of your pregnancy!


  34. I came across your site during one of my neurotic internet searches. (I probably should avoid this kind of thing but can’t seem to help myself). I am 12 weeks pregnant, 30 years old. I go in today for the ultrasound part of my ultra screen. (I did the blood work last week). I am totally freaked out and can hardly think of anything else. I work at an adoption agency where we see tons of healthy babies but also see ones with all kinds of problems, some with syndromes most people have never heard of. The fact that the odds are in my favor doesn’t seem to outweigh the terror I feel at the idea of having a baby with special needs. I have to admit that I just do not see myself raising a child with special needs. I know they are just as loveable as any child, but I do not think I would be the right parent for such a child. I don’t know what to do while waiting for these results. Hearing that others have had similar experiences is helpful, so thanks!


  35. Nicole, if you see this and you feel like talking about it further, please email me at the address listed above/top of the page and on the right hand side. I can and will calm you down. :]


  36. Thanks for your response! I actually am thrilled today because I got the results back, and the Dr. said they are as good as they can be…my chances of having a baby with these abnormalities are 1 in 10,000. I called my husband and cried from relief because I have been holding in so much anxiety about this. My job will always have this effect on me. I have to find a way to filter out all the unnececessarily scary information I absorb. But I will keep in touch, and thanks again for the helpful information as well as support.


  37. Thanks for your response! I actually am thrilled today because I got the results back, and the Dr. said they are as good as they can be…my chances of having a baby with these abnormalities are 1 in 10,000. I called my husband and cried from relief because I have been holding in so much anxiety about this. My job will always have this effect on me. I have to find a way to filter out all the unnececessarily scary information I absorb. But I will keep in touch, and thanks again for the helpful information as well as support.


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