Prenatal Genetic Testing

Sending big hugs your way. I truly hope that the CVS comes out normal, I really do. However, if it doesn't, you can at least be prepared. I would have hated to have been shocked by a major medical issue at the birth of one of my children. If you end up having a child with health issues, your pregnancy will be monitored differently, you may give birth at a hospital with doctors who can provide a higher level of care and necessary interventions right at birth (e.g. BI or Brigham, where Children's is right across the street vs. a community hospital). I had some markers show up on u/s and/or the blood screening test with my first two sons that warranted having amnio done. Luckily both were just fine, but it was a terrifying wait period between the initial screening and getting the all clear. I hope that at your meeting with the high-risk doc she can point to other signs that things are probably OK. I don't recall whether or not the femur lengths and presence of the nasal bridge are relevant this early or if those are at the 18-week u/s, but I know that for the one for which my blood work indicated an increased risk of DS that they later looked at the NT, femur length, nasal bridge, heart and spine and those looked good.

Please keep in mind that while a high NT number indicates an increased risk of problems, there is still a greater chance that your child will be perfectly healthy. I hope you get your testing and results soon - please keep us updated? Best of luck to you and your baby.

I have heard of so many false test results. Two of my friends were told their babies were possibly down syndrome because of measurements of the baby's femurs. They are both fine. Another friend was told multiple times her baby has spina bifida, and that she should terminate. He was born %100 healthy.
Hang in there, and have faith. I am not sure what a thick NT would mean, but if you already know that you will not terminate TRY to not let this consume you until you have all the answers.
Sending you postivie thoughts and prayers!! Hang in there!

I'm so sorry that you are going through this. Only you can decide what is h best way to proceed for you and your baby. I agree that you don't have to share this news with anyone until you are ready or know more. Wait and see what the high risk doctor has to say. For me, I decided I ould not do CVS or amnio even if he scorning tests came back with an elvated risk. I knew that I would not terminate so I felt the risks of the cvs or amnio weren't worth it to me bcause even if I knew there was an issue, I wasn't going to do anything differently. Dos that make sense? I would discuss with the HR doc all your options and what the risks are and then decide what you need to do for your peace of mind. Best of luck!

What did they tell you "thick NT" meant? Was this explained to you at all?

Ultra sounds are great, and there are so many things a doctor can tell from an u/s, but there is also so much partial information. How many times have we heard of a baby measuring at 9 lbs and mom being scheduled for a c-section only to have baby pop out at 7 lbs 10 oz? Or baby measuring at 7 1/2 pounds only to have mom with an emergency c-section and a 10 lb baby?

My point isn't to scare you or to criticize anyone for making the best decision with the information at had (ie, scheduling a c-section when all information seems to indicate a big baby).

My point is that you have very little information (information that I don't understand ... maybe others do ... maybe you do). Try to remain calm and gather information. I don't know what NT is or what it does or whether or not it even matters that it's thick. My oldest was surrounded by lots and lots of amniotic fluid. I was huge! I asked if that's a problem and was told that it usually wasn't. He's fine!

Ask lots of questions! Knowledge is power. Try to take things in stride. Of course you are concerned. Anyone would be, and especially after so many disappointments. But right now, it sounds like you don't really have enough information to even know if there's something to be concerned about.

Try to relax and just go along for the ride. You'll know more soon.

If you are not intending to terminate and are worried about the CVS you can also get a MaterniT21 test. It is a blood test that screens for fetal DNA in the maternal blood and has a pretty high accuracy in detecting the most common chromosomal disorders: Trisomy 21, 13 and 18 I believe. It is a diagnostic test, not a screening that will just give you a probability.
Talk to your doctor about it.
Good luck!

My 11 week ultrasound showed a thicker than normal NT measurement and also elevated levels of some other blood markers. After totally freaking out, I had the CVS done and results came back completely normal and my baby was born healthy and full term. So yes, it can all be fine. As was explained to me these are screening tests, with lots of "false positives"--which I don't think is an accurate description, because it is not a test that can fully predict an abnormality, so when you get a positive screen and the baby is really all right, it is not so much of a false positive as it is just an indication that your baby was in a higher risk category. It is a test designed to predict a higher risk of an abnormality. Also, you should have been told what your new risk is: you would have had a certain risk before the test results, based mainly on your age and previous history, now after this test result, you will have a revised risk. For example, before the test, you might have had a risk factor of 1 in 1000 chance of having an abnormality, and with the positive screen, your risk might now be 1 in 250. This will help you decide what to do next, whether you have the CVS or amnio just to know one way or the other. If you didn't get this risk figure, and you want to have it, call back. I remember being so shocked by the call that if I hadn't written it all down there was no way I would have remembered it. Best of luck to you, no matter what the outcome. The two weeks until you learn results might be excruciating, but you will come to acceptance and as you say, love the baby as a special gift, no matter what. I can promise you that!

I cannot begin to tell you how many times, including my DIL, these girls are told of a problem I.e, heart, small brain, third kidney or kidney semi split kidney (that was my DIL). They all are perfect in every way. I will not say do not worry because you will no matter what. My son and DIL were a wreck u til she had an u/s after birth. My heart goes out to you.

There is a new blood test out which is great. It sounds like you are a perfect candidate for it. Check with your doc. Sending lots of hugs and prayers to you.

Well, it could all be fine & most likely you will have a positive outcome.

I was 30, and had just gone through two losses in a row. I wasn't even thinking it was possible, as I was still recovering from the physical and mental trauma of the second one. I ignored all signs that I could be(because I never got over the symptoms after the losses, I was still heaving constantly). My dear friends mother was a confidant and a top-notch midwife. When I went in for advice, I got a preliminary exam and a verdict of 13 weeks pregnant. By the time I was able to get insurance that didn't nix my pre-existing condition(yeah, that's what they called it), I was very far along. My family doc ordered the ultrasound, and classed me as high-risk due to standard checklist. The tech(who I had to threaten with bodily injury for trying to tell me what I was having) termed my child very "wiggly".
I then chose based on my family doc's recommendation a wonderful OB/GYN to be my backup plan to my planned midwife homebirth. Unfortunately to use her, I had to change my doc temporarily. This guy was an arserag, and ordered me tons of invasive tests(over my OB's head). I ignored every one I felt wasn't in the best interest of my healthy pregnancy.
When he told me I was too fat(on the day my son was born, I had gained well over 70 lbs, so not really too much), I just laughed and ate more whole grain bread(that I made myself) and pomegranate seeds. I carried not only my healthy snacks with me, I carried a food journal with everything I ate from the day I found out I was pregnant. Showing him my generous yet very healthy organic food intake, he then ordered me another round of tests(which I also ignored). When the insurance company wanted to know why I was getting a TON of cancellations being charged, I told them the new doc ordered very invasive and to me, unsafe for my pregnancy tests, and I refused to take the appointment papers, exercising my right to a secondary opinion(from the OB/GYN), who decided I got the right to choose. The insurance company did give me the option of changing back, but I liked the OB doc, as she made me and my decisions understood as very important and listened to.
They told me as long as my OB backed up my decision to exercise my right to a second opinion, they would delete all the cancellations from my records(How can you cancel an appointment you never agreed to/knew about?).

Tell only those you need to when you feel you need to tell them. Take your tests as you need to, when you feel you need to. This is YOUR BODY, and YOUR BABY. As you can see with the idiot I had to deal with, some docs like DOOM AND GLOOM, without there being any real issues.

The Midwife set me up with Plan B just in case what happened to me happened. As it turns out, she delivered her own grandson in her home 11 minutes after I gave birth in the hospital to my son.

My son was born prematurely at five weeks early, at a very healthy little weight of 5 lbs, 11 oz, 19 in. He didn't cry instantly(which only gives you as a Mama a HUGE panic attack), but when he did, I thought he'd shatter the windows it was so very, "I'm here Mama! Tell this weird guy to give me to you cause I'm hungry and I wanna hug my Mommy!!!" My OB, for being a teeny spitfire of an awesome lady doc, made this huge linebacker framed pediatrician hand over my child and leave at a near run out of my room. Once I got to nurse my brand new son, I never looked back. I'm glad I stuck to my guns and talked out my fears with everyone I needed to when I needed to.

This is just My 2cp.

Hang in there Mama!

My heart goes out for you, I can't imagine how hard that would be to hear! I would personally not share the news, except maybe with one or two confidantes, until I knew for sure what was going on. I would also try to focus on the positive. You don't even know what, or if, anything is wrong yet for sure, but you do know that you have a baby with a healthy, strong heartbeat, and 4 limbs to wave to you with! After you find out more information from doctors, and knwo exactly what you're dealing with, would probably be a better time to tell people if necessary, once you have had some time to settle your emotions and decide exactly what you want everyone to know.