A.K.
It's been 9 mos. since I had my screen but I thought 3.0 was still within normal range. If she had negative MaterniT21, I don't think there's much to worry about.
My DIL just had her scan. Thick nuchal fold. 3.0. Negative MaterniT21 blood test. Nasal bone present. All other measurements perfect. Has anyone had this happen and deliver a perfectly healthy baby. You ladies have been my rock when I. Her last pregnancy she was told my beautiful granddaughter had a kidney issue. She did not. Any info would be great. We are all very upset. Will talk to her OB tomorrow, just curious. Thanks everyone.
It's been 9 mos. since I had my screen but I thought 3.0 was still within normal range. If she had negative MaterniT21, I don't think there's much to worry about.
All I know is, per things like this, an Amniocentesis is the most conclusive testing.
And, usually, a Genetic Counselor is seen along with tests like this.
There are screenings, and there are diagnostic genetic fetal testing.
Here is an info link:
http://www.fetalscreening.com/conditions_tests.php
No one, can say what all that means, per your DIL's screening.
It takes a medical professional.
I understand you are concerned and want to know what is going on.
But your DIL and her Husband, do need to speak to the Doctor about it.
And/or discuss further testing.
Nothing to add, just wanted to say hang in there and try to not worry about the unknown. I know that is much easier said than done but hopefully everything is ok.
Hugs to you, and take deep breaths. Keep reminding yourself that a risk factor is NOT the same as a diagnosis. Your OB will be able to give you a better picture of what is going on. But even after that - you can only get a diagnosis from amnio.
The way my OB explained it was that even with a 1:50 risk factor, that means that 49 of the babies with that ratio are perfectly healthy, and only 1 will have Downs. With this example, there is a 98% chance that the baby is just fine.
That is very close to normal. I had 1:3 risk of Downs and CVS procedure confirmed it wasn't. Baby is great.
My son had 3.5. 3.0 is just on the high end or just beyond what may be considered normal. Since there was a chance that my son could also have a bleeding disorder (he does), I had a CVS done. Came back with no downs, no trisomy (or whatever it is called for the chromosomes). We did have additional ultrasounds later though to check his growth and make sure his heart looked good. The only problem I had was that the fluids were very low, he ended up frank breeched and I had a c-section due to the fluid level 9 days early. He is a 20 month old bundle of energy, risk taking toddler.
My daughter's measured 3.0 mm too. I was concerned but the blood tests came back negative. Other measurments were also normal. In the end, it was determined that she had 1/500,000 chance of having Down's. She came out perfectly healthy.
Just to comment on one of the posters below, amino is not the only conclusive test available. There's another method--checking the maternal blood for fetal DNA. It's less intrusive and was recently recommended by ACOG for women over 35.
A friend of mine went through this same scare with a thick nuchal fold. Her baby was perfectly healthy and is 10 yo now.
I was told my 3rd was missing the middle bone of her pinky which is another marker for Down Syndrome. The perinatologist said that often the bone is shorter in DS babies but she had only seen a missing bone once before in a severely effect DS baby. Long story short, my baby does not have DS nor did she have a missing bone. The bone simply did not calcify yet. (FYI... I had an amnio although I would not have aborted even if my baby had Down Syndrome).
Best of luck.
Sorry - don't have any information for you.
Just know you, your daughter and grand baby are in my thoughts and prayers!!
I don't have any experience with that specific thing, but there are a LOT of false positives for Down's. I had one, related to HC-something levels (sorry, I'm blanking on the specifics). And my son does not have Down's.
What I would encourage, though, is getting to know more about Down's syndrome. I used to work with developmentally delayed kids, a number with Down's, and they were among the kindest, sweetest people ever, in the world. Many of them took on classic caretaker roles within their communities -- they were the watchers, the listeners, the keeper-in-liners. As a caretaker-type (sometimes) myself, I could really relate.
So, your absolute worst-case scenario is different, it's not what people hope for when they get pregnant, but it comes with many, many hidden blessings as well.
I don't mean to minimize what you're going through, but, rather than starting from a point of being very upset, if you can start from a point of "Whatever happens, we'll be okay, and we're all in this together," then you'll be an incredible source of strength for everyone around you. You'll inspire admiration for your whole life long.
3.0 is not that bad for a measurement. That's the beginning of what they say is "abnormal". If the nasal bone is present and the Materna bloodtest is negative then chances are very good that the baby is fine. That bloodtest is about 99% accurate. The other thing they look for with a thick nuchal fold is a heart defect. She will have the heart looked at thoroughly at her Level II anatomy scan. I wouldn't worry too much. If all the next things look good, she should be ok! Good luck!