If it weren't for that test, I wouldn't know why my daughter died. Not trying to be a downer. I'm very thankful we had the test, and I would've worried so much more with my pregnancy with my son if I didn't have answers to her death.
I did the standard NT test, which was negative/low risk. We later found out some other markers and did the Maternit21, which was positive and my son does have Down syndrome. So, I would do the Maternit21.
Not sure what the Maternit21 tests for exactly, but we did the regular NT scan with my first daughter which gave us good results, and ended up finding out about another rare chromosomal disorder after the A/S, which was not too late for termination, but required me to go through labour and deliver her. Obviously we would have preferred to learn about it earlier, given our decision. However, tests like that can't determine other physical abnormalities, which is why for my second DD we opted to have a CVS and a scan.
If I were still considered low risk, I'd opt for the Maternit21 and a scan.
I did NT with my first pregnancy and it did come back abnormal, confirmed by CVS. I had a "normal" u/S at 10w and was not AMA so wasn't worried.
The next time I did NT and NIPT. If I had to do only one, I'd lean toward NT because I think it could detect a wider variety of problems (albeit at lower precision). But, I know the NIPTs catch more than ever now so I guess I'd go with the doctor's rec.
It's really easy to be flippant about this stuff if you've never had a bad result, but I am very pro testing/information now, that's for sure.
I am AMA. My doctor did NT ultrasound (without the additional blood work) and Maternit21. I'm sure I could have opted out if I wanted, but it was presented more as "we will do these screenings at these times. Here is additional info if you want to choose CVS or amnio as well." Since I had recently miscarried, and was worried that something would go wrong with this pregnancy, I welcomed all non-invasive testing to let me know everything was looking good. I also wanted to know the sex of our baby, so was glad to have that info early on.
If it weren't for that test, I wouldn't know why my daughter died. Not trying to be a downer. I'm very thankful we had the test, and I would've worried so much more with my pregnancy with my son if I didn't have answers to her death.
Post by underwaterrhymes on May 3, 2016 7:00:47 GMT -5
Also, this is kind of a soapbox for me now, but it drives me absolutely batty when people say, "Well, it wouldn't have changed the outcome for me, so I didn't do it."
Many people want the results to better arm themselves with information necessary to prepare themselves emotionally, financially, and physically for the birth of a child who might have special needs.
I opted for Maternit21 (later today!) and I'll also get an ultrasound (I thought it was an NT scan, but this thread is making me think I misunderstood and its just a regular scan). I'm 34, so not quite AMA, but my insurance covers it and I like to have all the information available to me. I'm team green so finding out the sex wasn't a consideration.
I think this is such a personal decision. For all the people who say knowledge is power there are an equal number of people who are OK not knowing until their child is born. You have to think about what YOU want. Do you want to know the kind of information the advanced tests will give you? Or are you OK with whatever information the standard screening gives you?
We did the cell-free test (essentially the generic of Harmoni/MaterniT21). My OB and genetics counselor feel the NT is outdated in comparison to the cell free DNA tests' capabilities. But, it was available for me if I wanted it, as was an amnio, which is what I really wanted. I had no interest in odds - I wanted firm results.
While the cell-free tests are not diagnostic, they are more definitive than NT results. I will say that I am exceedingly glad I met with a genetics counselor before doing any test. They help you pick, frame the results and help you be clear on your next steps should anything come back amiss. I was required to meet with one before any testing and was a bit horrified to learn that this is not standard.
I think this is such a personal decision. For all the people who say knowledge is power there are an equal number of people who are OK not knowing until their child is born. You have to think about what YOU want. Do you want to know the kind of information the advanced tests will give you? Or are you OK with whatever information the standard screening gives you?
This is why I think these pre-screenings should be mandatory. You know the absolute worst time to research a life threatening issue for your child? Two days post partum while trying to sleep in the NICU. Even with down syndrome there is more at stake than giving birth to a plucky Special Olympian, there are very real medical issues that Down Syndrome carries with it, issues that if hospitals and parents know ahead of time can be addressed immediately instead of waiting until you can get the proper medical personnel. The pre-screening can even determine what hospital you give birth in. Not all hospitals are equipped with Level 5 NICUS. Are you prepared to have your newborn in another hospital than you are because that's the best option available?
Sorry, in advance if this is offensive I just get emotional about this subject and can't tell.
Also, this is kind of a soapbox for me now, but it drives me absolutely batty when people say, "Well, it wouldn't have changed the outcome for me, so I didn't do it."
Many people want the results to better arm themselves with information necessary to prepare themselves emotionally, financially, and physically for the birth of a child who might have special needs.
Thank you very much for saying this. I tried and couldn't last night.
As someone who has had chromosomal abnormalities found at first trimester screening I have a hard time saying this without a giant dose of fuck you in my tone. I didn't want to turn this thread into that so I typed and deleted a lot last night. I didn't (and don't) want to turn this into a fight but people say shit like this to me in real life too. It stings and people are lucky they don't realize it.
I think this is such a personal decision. For all the people who say knowledge is power there are an equal number of people who are OK not knowing until their child is born. You have to think about what YOU want. Do you want to know the kind of information the advanced tests will give you? Or are you OK with whatever information the standard screening gives you?
This is why I think these pre-screenings should be mandatory. You know the absolute worst time to research a life threatening issue for your child? Two days post partum while trying to sleep in the NICU. Even with down syndrome there is more at stake than giving birth to a plucky Special Olympian, there are very real medical issues that Down Syndrome carries with it, issues that if hospitals and parents know ahead of time can be addressed immediately instead of waiting until you can get the proper medical personnel. The pre-screening can even determine what hospital you give birth in. Not all hospitals are equipped with Level 5 NICUS. Are you prepared to have your newborn in another hospital than you are because that's the best option available?
Sorry, in advance if this is offensive I just get emotional about this subject and can't tell.
But Down Syndrome can be detected with many traditional screening methods, so even if you opt for just the 20 week ultrasound, you'll know. A lot of extra screenings bring extra worry for pregnant woman - they find that their risks are elevated and opt for more invasive testing when there's nothing wrong. My 20 week ultrasound indicated that my risk for Down Syndrome had doubled. I was AMA so I assumed that meant my risk was VERY high. Yeah, it was 1.2%. Given those odds I opted not for more testing, but I understand that was a very personal choice. Someone else may have opted for more testing based on that.
I think this is such a personal decision. For all the people who say knowledge is power there are an equal number of people who are OK not knowing until their child is born. You have to think about what YOU want. Do you want to know the kind of information the advanced tests will give you? Or are you OK with whatever information the standard screening gives you?
Here's the deal - your child could die before they are even born. Some of the diagnoses that you get from the early screening can inform you if there is even compatibility with life.
I will share my story briefly: We have a perfect NT scan. The doctor told us to get ready for diapers! Then we got the first set of sequential screening back with a slightly elevated risk for some abnormalities (but not deemed "positive" by the state of California, so no further testing required). We could have gotten a CVS at that point - we had one day to still fall in the window, but the risks were the same, so we decided not to. When we got our second set of sequential screening, we came back 1 in 3 for a serious abnormality. We were able to get a same-day appointment and do a scan and an amnio. This was at nearly 17 weeks. When the FISH results came back, they were not good and we had options on what to do next. Without the sequential screening, we probably wouldn't have known until closer to 20 weeks that there might be an issue, which would have required more testing, at which point you have lost some choices and time.
When you find out that your baby has three sets of chromosomes, sure, you have choices, but the earlier you can make those choices, the better. Not all of the NIPTs would have caught this (I think only Panorama was testing for it at the time), but with knowledge comes choice.
Thanks for everyone's thoughts, and to those of you who shared your stories. I know there are different views on this but H and I are also of the opinion that we want as much and as accurate information as possible. We decided to do Maternit21.
I didn't do the NIPT for my first, but I did with my second as I am now AMA. I probably would not have done it otherwise because my insurance doesn't cover it unless you are AMA or high risk, and it is $$$$. I did have an ultrasound along with it.
This is why I think these pre-screenings should be mandatory. You know the absolute worst time to research a life threatening issue for your child? Two days post partum while trying to sleep in the NICU. Even with down syndrome there is more at stake than giving birth to a plucky Special Olympian, there are very real medical issues that Down Syndrome carries with it, issues that if hospitals and parents know ahead of time can be addressed immediately instead of waiting until you can get the proper medical personnel. The pre-screening can even determine what hospital you give birth in. Not all hospitals are equipped with Level 5 NICUS. Are you prepared to have your newborn in another hospital than you are because that's the best option available?
Sorry, in advance if this is offensive I just get emotional about this subject and can't tell.
But Down Syndrome can be detected with many traditional screening methods, so even if you opt for just the 20 week ultrasound, you'll know. A lot of extra screenings bring extra worry for pregnant woman - they find that their risks are elevated and opt for more invasive testing when there's nothing wrong. My 20 week ultrasound indicated that my risk for Down Syndrome had doubled. I was AMA so I assumed that meant my risk was VERY high. Yeah, it was 1.2%. Given those odds I opted not for more testing, but I understand that was a very personal choice. Someone else may have opted for more testing based on that.
This is just not true. A close friend had all of the basic screenings. Her son was diagnosed with DS 5 days after his birth.
The tests aren't perfect but they can help give you peace of mind. Ultrasound technology is so good nowadays that I often hear of something coming up on the ultrasound that is typically nothing if it is an isolated soft marker. That said if you already have had that blood work complete testing for the major trisonomies, the risk of there being an issue with only an isolated soft marker and decent blood results is extremely slim. In both ultrasounds I have had issues come up but because of the panorama or similar test I had done, I didn't have to worry as much about the results since I had already tested negative with a high degree of accuracy. This definitely helped save my sanity during what would have been the wait between the two ultrasounds if I hadnt had it done.
But Down Syndrome can be detected with many traditional screening methods, so even if you opt for just the 20 week ultrasound, you'll know. A lot of extra screenings bring extra worry for pregnant woman - they find that their risks are elevated and opt for more invasive testing when there's nothing wrong. My 20 week ultrasound indicated that my risk for Down Syndrome had doubled. I was AMA so I assumed that meant my risk was VERY high. Yeah, it was 1.2%. Given those odds I opted not for more testing, but I understand that was a very personal choice. Someone else may have opted for more testing based on that.
This is just not true. A close friend had all of the basic screenings. Her son was diagnosed with DS 5 days after his birth.
I also have a friend whose son was also diagnosed with DS days after his birth. She was AMA and had scans that did not detect it and even after he was born several medical professionals did not think he had DS just based on his appearance alone.
This is why I think these pre-screenings should be mandatory. You know the absolute worst time to research a life threatening issue for your child? Two days post partum while trying to sleep in the NICU. Even with down syndrome there is more at stake than giving birth to a plucky Special Olympian, there are very real medical issues that Down Syndrome carries with it, issues that if hospitals and parents know ahead of time can be addressed immediately instead of waiting until you can get the proper medical personnel. The pre-screening can even determine what hospital you give birth in. Not all hospitals are equipped with Level 5 NICUS. Are you prepared to have your newborn in another hospital than you are because that's the best option available?
Sorry, in advance if this is offensive I just get emotional about this subject and can't tell.
But Down Syndrome can be detected with many traditional screening methods, so even if you opt for just the 20 week ultrasound, you'll know. A lot of extra screenings bring extra worry for pregnant woman - they find that their risks are elevated and opt for more invasive testing when there's nothing wrong. My 20 week ultrasound indicated that my risk for Down Syndrome had doubled. I was AMA so I assumed that meant my risk was VERY high. Yeah, it was 1.2%. Given those odds I opted not for more testing, but I understand that was a very personal choice. Someone else may have opted for more testing based on that.
Yes - this is why theae tests should come with a counselor to frame them. The entire point of meeting with one before doing any testing was so that the parents understood the true risks and what the results meant.
Waiting until 20 weeks still means that many are lacking the proper perspectives.