Downs

cynthiasun79 · June 2013

Has anyone here tested positive for downs. This week I received news that I screened positive for Down syndrome, 1:86 chance. If your test was positive, how are you handling the news? Or do you have a child with downs, what advice can you give?

Guennie · June 2013

I tested positive with a risk of 1 in 231. I am remaining positive because I know that the screening does not mean you will have a ds baby and most of the time everything turns out to be normal. I will be having a level 2 ultrasound but if they recommend further testing I won't do an amnio because it just isn't worth the risk to me. I would never terminate the pregnancy because of ds so I will refrain from any invasive procedures. I know it feels overwhelming but try to remember you still have a good chance that everything is fine. A positive screening is not a positive diagnosis. Hugs!

cynthiasun79 · June 2013

I don't want to do an amino either. I have another ultrasound scheduled. I also don't think I want to terminate the pregnancy. I've heard the genetic counselors discuss abortion and I just don't want to discuss it. What does your dr say? Are they concerned, or does it feel like they're having you do the 2nd ultra sound to prevent liability?

playball13 · June 2013

Did you have your nt scan yet? My blood screening showed 1:60 chance but my nt measurement was only 1.8 which is well below the 3mm red flag. Mr dr. was pleased with my measurements. I am meeting with genetic counselor on Monday. I'm not sure what further testing we will do at this time but I want to know my options. We are not considering termination but I feel it is important to be prepared. I want the time to research developmental specialists in my area. I do not want to be rushed after the baby comes.

cynthiasun79 · June 2013

I have my nt scan next week. I call everyday to get in sooner. This is such a difficult time. My dr. Mentioned the mat21 testing if I wanted to do more testing. This is all new and scary.

cynthiasun79 · June 2013

cupcakes what made u choose an amino over a mat21 test? And, what was your ratio for downs?

DonnaMartinGraduates · June 2013

Your test was just a screening, you can't get a positive or negative result with a screening, only with an amnio. Your risk assessment was a little on the higher probability side but you won't know your child has/doesn't have DS unless you do the amnio. Even the MaterniT21 test is an assessment, although a much more accurate and detailed one than an NT Scan. You still have a fairly good chance that your baby is perfectly healthy

Lenox1975 · June 2013

First - I'm really sorry about this situation. I'm a little behind you on testing but even if (and hopefully it is!) everything is fine, this is just such a scary and emotional time.

I just took a Harmony (same as Matern21) test last week which has a 99% detection rate. It takes up to 2 weeks to get results. For me, as I understand it the Nuchal/blood has 85% detection rate and CVS has 100%. So this new Harmony test allows me to get very high accuracy without the invasive procedure.

Personally, if I had that news I would do Harmony and if results were the same I would do CVS or amnio (depending on timing)- but as PP mentioned- that's just my own personal decision.

I would probably recommend you do Harmony/Matern21 immediately, plus your NT scan. It will get you much more certainty.

ETA: I just noticed there is a board called "Special Needs" - didn't check it out but wonder if you may get some great info on raising a child with DS

Guennie · June 2013

cynthiasun79:
I don't want to do an amino either. I have another ultrasound scheduled. I also don't think I want to terminate the pregnancy. I've heard the genetic counselors discuss abortion and I just don't want to discuss it. What does your dr say? Are they concerned, or does it feel like they're having you do the 2nd ultra sound to prevent liability?

My dr is not concerned, he is optimistic. They aren't trying to prevent liability, they simply want to provide me with as much information as they can. The level 2 ultrasound looks for soft markers which would indicate a risk, but it still isn't a diagnosis. Nobody would choose a disability for their child but I have a friend who has a son with downs and he is the most lovely, happy child. If you are eventually diagnosed with a downs baby I would highly encourage you to talk to someone who has raised a child with this disability. But like I stated previously, they have simply given you a risk assessment at this point so try not to let your fears run away with you.

cynthiasun79 · June 2013

I need to not let myself get carried away, everyone is right. More testing is needed, then ill have more info. Thankful for u all right now!

Geeps2 · June 2013

Don't let the numbers scare you. I had a friend who tested 1:20 chance for DS and during her NT scan the baby showed "shadows" on the heart that is also a soft marker for DS. Her son is almost 2 and PERFECTLY typically developed. I bet you and baby will be just fine. But I totally get the worry. Good Luck!

Jaytee501 · June 2013

When pregnant with my DS, our NT result was a 1:78 risk for Downs. I proceeded with an amnio at 17 weeks; no Downs or Trisomy 13, 18.

I'm 40 and 12 weeks pregnant with LO#2. My NT came back low risk (surprisingly) this time but I've done the blood draw from the MaterniT21.

I believe** (**not certain) the MaterniT21 is currently, while NOT 100% accurate, the most accurate of the non-invasive testing. There is a slightly newer test, the Panorama, that claims greater accuracy.

Our genetic counselor quoted the MaterniT21 as being 99% accurate for detection of Downs and somewhat less so for Trisomy 13 & 18.

Only a chromosomal sample by CVS or amnio would be conclusive.

I hope all will be well with your pregnancy and your baby! I was so worried with DS and everything turned out fine.

TX-Bride · June 2013

Cupcakesandquilts:
I'm 36 and 17 weeks pregnant. I had an amnio yesterday just to get the "all clear." It may not be a popular stance but my husband and I aren't up for raising a child that we know for sure will have a developmental disability.

This is exactly how we felt and opted for amnio to be sure. We did look into doing M21 or Harmony and there is still some chance that you would get a false negative.

BootsOrHearts · June 2013

I was 1:37 for chromosomal issues because of my age, we did the Harmony blood test and it came back negative for all.

Suggest looking into these types of blood tests as they are non-invasive and have better accuracy than quad screening/NT screening which only give you odds.

Remember, the odds are still very good that your baby is normal.

IF your mat21/harmony, etc. comes back positive, remember that false positives are rare but can happen, so you might want to consider amnio at that point if you want to know for sure.

I hope everything is ok

leshellem · June 2013

With my first my NT was 1:23 for downs. I was miserable. The worst three weeks of my life. During that time I looked up everything I could find on having a baby with downs wanted to be a prepared as I could. I had to wait for the amino until i was 15/16 weeks (dont remember) than it was another two weeks after that. All said and done my son did not have downs. Take a breath and know that the NT scans are very accurate if it is negative for downs but have a very high false positive for having downs. Stay as calm as possible and do the next round of testing.

I am actually debating taking this test again. I'm five years older and know the numbers can be worst. I'm leaning toward not taking it.

BootsOrHearts · June 2013

leshellem:
With my first my NT was 1:23 for downs. I was miserable. The worst three weeks of my life. During that time I looked up everything I could find on having a baby with downs wanted to be a prepared as I could. I had to wait for the amino until i was 15/16 weeks (dont remember) than it was another two weeks after that. All said and done my son did not have downs. Take a breath and know that the NT scans are very accurate if it is negative for downs but have a very high false positive for having downs. Stay as calm as possible and do the next round of testing.
I am actually debating taking this test again. I'm five years older and know the numbers can be worst. I'm leaning toward not taking it.

Keep in mind there is no 'positive' or 'negative' on NT scan results - all they can give you is odds. 1 in 100 means there is a 1% CHANCE that the baby has downs. The only way to know for SURE is to have Mat21 (or similar), CVS, or Amnio. The WORST odds you can get on NT (and I've never seen anyone get this) is 1:2, meaning 50/50 odds. But keep in mind that even 1:5000 means there is still a chance, it's not 'negative'.

Leggett44 · June 2013

Due to my age, before any tests were done, my odds were 1:81. My nt scan was good at 1.9 and no soft markers, but they didn't change my odds. However, I did opt for the Harmony test that gave me odds of less than 1:10,000. The Harmony test never said negative or positive, but I'll take the odds that I got without doing invasive testing.

lalee73 · June 2013

My risk after nt and blood work was 1:20 with a normal nt scan. We did materniti 21 and came back positive. We did not do a amnio due to risk of miscarriage. We opted to get a fetal echo and if bad would have probably terminated since I would never want to put a child through multiple heart surgeries. Thank goodness the echo came back completely normal! Our baby did have duodenal atresia and had surgery at 5 days old and we spent 3 weeks in the NICU.

Now we are home and he brings me more joy than I could ever put into words! He is completely healthy and at this point shows no developmental delays. Granted he is only just over 2 months so that may not last as he gets older.

We spoke to many parents of children with down syndrome and did a lot of research. My best advice is do the maternity 21 first and then go from there.

Also baby center has a wonderful down syndrome community if you are looking to get more perspectives.

You are welcome to PM me if you want.

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