Ultrasounds & Genetic Testing – Anxieties and Truths

When you are pregnant there is a ton of poking and prodding you have to put yourself through. You pee in about a thousand and one cups before it is over and they take at least a dozen blood samples, you get used to it. Here are some of the ultrasounds and testing you might go through. I wish I had known all of this info the first time I was pregnant! (Before you go on remember I am not a doctor. These are my experiences and what I have learned over my two pregnancies)

When you are 6-8 weeks pregnant and you see your OBGYN for the first time. They will do an ultrasound to verify that you are in fact pregnant and the baby has attached properly. Just FYI this ultrasound is usually done transvaginally, which means it is NOT over the belly. They will use a thin ultrasound wand and place it into your uterus through your vagina. I’m not gonna lie to you, it is not comfortable, like at all, but it doesn’t usually hurt it is just awakard.Ultrasounds and Genetic Testing - 6-8 weeks

The second ultrasound, for me always performed at the Perinatologist, is recommended between 11-13 weeks. This ultrasound is cool. It was the first time I got to see a baby which actually looked like a baby. At my 8 week scan the baby was still kind of a blob. You know that scan where you stare and stare at the screen and when the doctor asks you if you see it you sheepishly say, “Of course I do!” but you are never really sure.

By 11-13 week you can see arms and legs, you can distinguish between the head and bottom. It is very cool. During this scan they go over the entire body to make sure everything which should be there is and everything is growing properly. The tech will check what is called the NT or nuchal translucency. This is a fold of skin behind the baby’s neck. The thickness of this skin can be an indicator for risk of certain birth defects like Down syndrome and Trisomy 18.

Ultrasound and Genetic Testing - 11-13 Weeks

Here is a warning for everyone. Remember I am NOT a doctor and you should listen to EVERYTHING your doctor tells you but this is my personal experience. With our daughter it took the ultrasound tech over 30 minutes to get a measurement on the NT. She tried everything, even the doctor came in and tried to get the baby in a “good” position. It was tough. After the scan we were told our daughter was showing a thick NT. We needed further testing. This is of course every parents worst case scenario. I later did some research. I found out if they do not get a “good” reading of the NT within 15 minutes there is a good chance the baby was not in a proper position and an accurate reading was not taken. It did not matter we still did the more in depth testing.

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We were lucky, very lucky, we were able to do a blood test called the Maternit21. We were actually among the first they were giving it to. This simple blood test was able to test my blood for trisomy’s 21 (Down Syndrome), 18 and 13, plus tell us the gender of the baby. Our daughter was negative for everything and was and still is a happy and healthy little girl. As I mentioned if we had the same thick result with our second baby I would have done the testing again, hands down, so I am not saying the test is inaccurate, the total opposite, they do this test for a VERY good reason. My advice is try to breathe if this happens to you. I was such a mess I could not function and that is never good for you or your baby.

The third and final ultrasound you will get will happen between 18-20 weeks. This is the best and most fun ultrasound to most parents because you get to find out if you are having a little boy or girl! This ultrasound is important for other reasons of course but that is the fun part. During this scan they will check the babies heart, brain, organs, limbs and fingers and toes. They will make sure everything is growing properly and there are no obvious birth defects you need to know about. They will also check your cervix, placenta and amniotic fluid level, three very important things to watch. This scan is usually a little bit longer than the second one because it is the most in depth look they will take of your baby until they are born.

Ultrasound and Genetic Testing - 18-20 weeks

Other tests and ultrasounds may take place if something seems amiss to your doctors. For example with our daughter we had an ultrasound every month. While this was very cool and we got to see her a lot it was not for a fun reason. If you are in this group try to look at the bright side and not the clouds. You get to see that baby grow every month. I don’t get this with my current pregnancy and kind of miss it. The reassurance if nothing else was great.

You may be asked if you would like to take an amniocentesis between 14 to 20 weeks. I opted to not do this but my sister in law had one. She said it was a bit scary and not comfortable but she was glad she did in the end. It answered the questions they had about their daughter having Down syndrome and other birth defects. This was before the blood test I mentioned earlier. Again I am not going to touch on this heavily because I personally did not have one done.

Please know you can very easily go down a rabbit hole with genetic testing. If there is truly the threat of something being wrong then down you should go. You want to be as prepared as possible both for yourself and your future child. From all we learned with our daughter it will not be cheap and will not be fun. Just be aware of all the risks, find a doctor you trust and talk to them. Go over everything, never feel rushed. This is one of the most important decisions you will ever make, you need to be as comfortable as possible.

I know that in a perfect world your pregnancy would be fun and easy. You would never worry about your baby and just be able to enjoy every second. Try your very best to do that. Remember when you are a mom parenting starts the second that stick turns positive.

Good luck and I wish you a happy and healthy pregnancy!


Kristin, The Perfectionist Mom

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  1. Wow! You guys get to see your OBGYN so early! We see a family doctor for the first few weeks until we get a 12 week ultrasound, then another at 20 weeks, then we see the OBGYN around the last 10 weeks…unless there appears to be problems in the first bit…

    1. It is very interesting to me how different everyones experience is. I am not sure where you live but it seems to vary by state. I have cousins who live in NY state and had a very similar experience to yours. Down in Florida this schedule seems to be the norm.

  2. We did ultra sounds but not genetic testing with our first one. Not sure if we would do it the same the next time around.
    Samantha recently posted…Healthy Fit ‘n Lean 2016 Week 3My Profile

    1. With this second baby we are doing the ultrasounds but nothing abnormal was detected so the extra testing was not even discussed. Thank you for stopping by!

  3. That part of pregnancy was the most stressful. You are right, you can end up down a rabbit hole with all the genetic testing. I remember having to have philosophical discussions with my husband that I did not want to be having!!ch

    1. I know! It is so stressful and you are supposed to de-stress when your pregnant. Thankfully we did not even have to discuss testing with this second pregnancy but with the first we had those conversations too. It becomes very scary, very quickly.

  4. I used to get so nervous before each of my appointments when I was pregnant with our son. I was so scared that we’d get a bad report. We never did, thank God, but it was always something I feared.
    Stephanie recently posted…The Kids Behind The Blog AnnouncementMy Profile

  5. I only had 3 ultrasounds with my daughter… I guess all states are different. However I think that insurance coverage has a lot to do with it. If there are no risks/reasons to do additional ultrasounds then they won’t do them.
    Twitchetts.com recently posted…Simple Toddler Chore ChartMy Profile

  6. With my first baby, I was under 35, and just had all the normal tests and ultrasounds. With my second pregnancy, I was 35 and it was twins. It’s a whole different ballgame, so if anyone needs help or has questions, please let me know. I also had a CVS with my twins, which is something they can do before amnio.
    Shann Eva recently posted…Sleep Questions on Ask Away ThursdayMy Profile

  7. We skipped the genetic testing. My doctor warned us that there are so, so many false positives. It’d just give me even more to worry about!

  8. I love that last line. “Remember, when you are a mom, parenting begins the moment that stick turns positive.” That is a beautiful sentiment and so, so true.

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