MaterniT21 test - positive

[ProudFather]

First, I want to introduce myself and apologize if this should have been posted elsewhere. I'm a father to a beautiful and healthy 2 1/2 year old girl. I'm 31 and my wife is 31. I never thought in my life I'd visit a forum like this but now it is needed.

The story: we went in for our gender reveal ultrasound and it revealed 2 soft markers.... One on the heart and one on the bowels. We saw a specialist the next week and everything looked great. Femur length and all of those other measurements looked fine. However they discovered a heart defect, something called pulmonary artery stenosis. Basically the artery that controls the outflow of blood is half the size it should be.... Most likely requiring surgery. We were floored, and in the meantime took the matenit21 test to clear us of down syndrome so we could cross that off the list.

Last night my wife received a call with the results indicating a "higher than normal level of chromosome 21." I guess this means it was positive. We're devastated. I left work in tears today after staring at the computer screen for an hour. My wife will not have an amnio to confirm.

Yes, I'm aware of the m21 accuracy rates. Am I unreasonable for thinking maybe the test was wrong. Maybe we have hope. Maybe the heart defect is completely unrelated and coincidental. Maybe he's ok.

Or do I need to come to terms with the likelihood that my child has down syndrome?

 

[JenX]

Really sorry you are going through this. I guess there's always a chance the test was wrong- though a very small one. It is still considered a screening test, that's why they recommend amnio to verify. Good luck- I'm sure your child will be amazing, Downs or not.

 

[deafgal]

they thought my son was a high risk of down syndrome but it was a different type of screening than maternit21(and 11 years ago) so they used more advanced ultrasound to look for more signs of Down syndrome. He didn't have any signs of it on ultrasounds. and it turns out he is not down syndrome. nor have any disabilities (including learning) the worst he got was an umbilical hernia which he just had a surgery last year.

Unfortunately, heart defects are common in down syndrome so I would be prepare and learn everything you can on down syndrome so he can grow up healthly, happy, independent, and well adjusted.

 

[julesjules100]

Oh I'm so sorry to read this... I have recently done the Harmony test (same at MaterniT21) so know about the worry. What has your consultant said about all the soft markers read in tandem with the high risk result on the M21 test? I think he/she would be the best person to comment as to whether this seems likely.

If your baby needs surgery for the heart defect, is this something they propose to do in utero or after delivery? If the former, then you could do an amnio at the same time. I guess the question is, if you had a 100% confirmation of Down's from the amnio, would it make you terminate the pregnancy?

J x

 

[angela2011]

I am so sorry to hear this. I know how worried you two must be. I had the same test done but mine came back normal. The doctor should explain to you what the results mean because I know the test checks for all the different trisomies. I would call the doctor and discuss exactly what the results mean. Best of luck to you both

 

[New Mrs W]

Hi, so sorry this is happening, you must be beside yourself with worry.

The experience I can offer is that my best friend's father remarried a few years ago. His wife was 43 and had no children of her own and so they decided to have one together. At the 20 week scan it was revealed that their little boy had the same heart condition as your little one. They also refused any further tests for Downs, but saw the heart specialists to find out what the heart condition would mean for their baby.

As it was, he is Downs. He does have pretty serious heart problems and aged 18 months has had a handful of operations on his heart already. However, he is such a lovely, happy little boy with a very full life. Everyone who meets him falls in love with him and his family cannot consider what their life would be like without him.

The road ahead may well be a tough one for you. You will have a lot to think about. No one would judge you for any decision you make based on the information you have received. But special babies are sent to special families. You WILL cope with whatever is thrown at you because you will have to. You sound like a secure and loving family, what better setting for a baby who may have extra needs to most? You will have all the medical help and support you need to keep you going and there is so much more support out there than people realise.

Really, I will keep you in my prayers. It is every parent's worst nightmare to be told that something isn't quite right with their child. But any child can be given a wonderful life, it may not be the same as every other child's, but it can still be one filled with love and happiness. Good luck to you all xxx

 

[drsquid]

unfortunately i have to say with a high risk on the maternit21 test, and soft markers, and a heart defect, you have to prepare yourself for downs. at the very least you have to prepare yourself for a special needs baby even if there isnt downs as pulmonary artery stenosis even if no surgery ends up being needed will require close attention and followup. as it sounds like you will have the child regardless, you know how you function best. for some people that is preparing for the worst (ie assuming worst case scenario) and then theoretically being pleasantly surprised or vice versa. in general i dont recommend people read up on google as you are unfortunately more likely to find the outliers (ie cases that turned out totally horrible or ones where everything was wrong and at birth the baby is totally normal, neither of which is a likely outcome). however reading up some or talking to your doc about pediatric cardiology (something you know you will have to deal with) and possibly about downs may give you some reassurance and help you deal with this unexpected loss (that of the "normal" child you planned for). sorry for rambling. and good luck... oh and read this https://www.our-kids.org/Archives/Holland.html

 

[RKW]

I have no background knowledge of this, but I feel compelled to say how sorry I am you are going through this uncertainty, and I wish you all the luck in the world for your family, however everything turns out xxx

 

[lily28]

I'm sorry you are going through this... I think you should definitely do the amnio to be 100% sure. Best of luck to you both!

 

[nyba]

Downs and heart issues can go hand in hand.

I'm very sorry you are going through this and wishing you both the best.

Amnio is the only way to know for sure.

 

[sethsmummy]

so sorry your going through this. I would read up all you can and prepare yourself best you can to have a baby with downs. Or at minimum with extra needs due to the heart defect. BUT your baby will still be perfect with or without downs My best friends brother has downs.. and he is one of the funniest more caring guys i know... and he always has a smile on his face

I cant blame your wife for not wanting an amnio to confirm as there is risk of miscarriage after having an amnio done and a lot of women would just not take the risk, especially if you are willing to carry on with the pregnancy regardless Speak to your doctor.. they should be able to give you much more information and leaflets etc on the exact type of downs they suspect, or at least help you feel a little more prepared xxx

 

[Jarenk]

I had the test with my first DS and my markers were high. I opted to first have a scan performed by a great diagnostician. He looked for any signs of downs and there were none. This scan was performed when I was about 24 weeks pregnant, you might want to suggest to your wife to look into getting a scan performed by a specialist instead of an amnio. Even though an amnio is the certain way of finding out before the baby is born, the scan is the best, least invasive way. I told my DR, even though my test came back positive, I was not going to get an amnio because of the risk of a miscarriage and the results of the test would not keep me from carrying the pregnancy.

 

[drsquid]

but jarenk the problem is the scan has already shown there are markers and a birth defect, plus blood work has shown high risk. a detailed scan is helpful when blood work (not maternit21 which looks at the actual chromosomes. but the one that looks at levels of normal hormones) raises a red flag. basically at this point the only real option is amnio or wait til birth to find out for sure. it is funny to me that people worry about the risk of amnio but then consider various other things that are about 1% risk or so as safe. amnio caries less than a 1 in 400 risk of problems. i had two (twins). and had no issues whatsoever. that is the gold standard.

 

[CutenessANR]

I am sure this is very difficult for you...My mother and father were older when my little brother was conceived. He is not a downs baby, in fact he is not a baby at all anymore, he just turned 18. Mentally he is about 13 now, and that is after years and years of medication and therapy. My little brother has 11 different mental disorders. My mother and I talked about it once and she said that for the longest time, when Cory was struggling, she wished she could go back and abort the pregnancy. (and she is very pro-life, mind you) My mother pretty much lost everything. She cannot work because they will cut off his medication and she can't make enough to pay for it. He cannot ever drive. He will not be going to college. And although her life was twisted upsidedown, my little brother seems to not know he is different. So I am sure your baby will be happy with himself regardless...what you need to prepare for is a complete life change. And it will be drastic. I wish the best for all four of you! I hope it turns out for the best. I am not far enough to take this test yet, but I have been worried because my man is 34. I am 23 and have heard that most defects come from an older mother, not father, but i still worry

 

[cgav1424]

First of all, I think it's lovely that you're posting on here and showing concern for your child. You are already an amazing parent. Second of all, I'm so sorry you and your wife are having to go through this. I would sit down and have a frank discussion with your doctor about what all these results mean then take it one day at a one from there. If you and your wife won't terminate the pregnancy regardless of the outcome, then I agree with your wife for not getting the amnio. However, even if you've made the decision not to terminate, knowing for sure may help you in better preparing for the situation. Like drsquid said, the chances of problems from an amnio really aren't as scary as everyone thinks. Whatever you and your wife decide, I wish you all the best. You'll be in my thoughts.

 

[AllMacsNow]

I just wanted to say good luck to you.