Chromosome screening

[yohair]

Hi, I'm 38 years old and am about 11-12 weeks pregnant. I just took the chromosome blood test to check for trisomy and everything I see online says it's a risk factor test. However, the dr that gave me the results said that I have a 98 per event chance that the baby has Down syndrome. Of course this is difficult for me and I will take t CVS test to make sure. Does anyone have any experience with these test results?

[Marit_Ellen]

Hi, i am 37 years old (turning 38 in 3 weeks) and 17 weeks pregnant. I would recommend a NIPT or Harmony test which are non-invasive and very accurate.
They cost money in some countries. Here in Australia the samples have to be sent to the US. But they come highly recommended by most health professionals I have spoken to.

Good luck with your decision!

[hkjen]

The anomaly scan doesn't pick up Downs.  The risk factor tests aren't "wrong", they simply tell you your chance of having a baby with Downs.  Even with a "high risk" result of 1/5, that still means you have a 4/5 chance of having a baby without downs.

I'm 39 so my 'baseline' risk factor was 1/150.  However after the NT measurement and quad screen blood test my risk factor was reduced to 1/2600 - so it's not true that you will always get a high risk score if you're older.

[ericatoday]

With my last baby my doctor told me i shouldnt even take the test because its wromg most of the time and its an added worry you dont need. Theyll usually be able to tell for sure ar the anatomy scan. I wouldnt worry too much about it. Just stay calm and try not to stress.

[specialneedsmom]

I can't tell you about the tests but I have a 4yo son that has down syndrome. He is wonderful, smart, hard working and loves his little sister. It is hard but definitely worth it. Good luck!

[lucie27]

Sorry to hijack this thread. But I'm expecting a little girl in December. I have a two year old with Down's syndrome and just wondered how your little boy got on with his new sister.

[specialneedsmom]

Well they are 17mo apart and best of friends. She challenges him in the things he doesn't want to do. She wasn't planned but she was the best thing for him. They always look out for each other.

[lucie27]

This little one wasn't planned an I was so nervous to begin with and unsure. But we went with it and now I'm lookin forward to it. I'm happy to hear things are good makes me think that it can work out for me also :)

[fmj3babes]

My sister had Trisomy 18 come back as "high risk". The CSF test came back negative. She is a normal, healthy, sassy 6yo now!

[Estrelol]

Hi yohair. I'm also 38 and 25 weeks now. My combo test scores were elevated for Down aswell. There are no false positive or false negatives for this test, as it doesn't measure Down, but the CHANCE on Down based on several factors such as age, hormone levels and heredity. My doctor told me that only due to agree my test would already give high risk.  That is because the CHANCE on a child with Down increases with the age the mother has.

The test however doesn't measure any features related to down, only co-factors that seem to coincide.  It doesn't really tell you anything other than a chance. So just relax and wait for the dna test results. My baby turned out to have no genetic differences what so ever. So i was worried for nothing.

[babynumber7]

Honestly i had every test done when my daughter witch is 10 now and said nothibg was wrong with her when she was born she had downs. Even if they do more test would you end the pregnancy? Because of it if not i wouldnt even bother doing it more stress on you that you dont need.

[Sixisit]

With my last son, I was 38,and we did the AFP test and I had the same results. They sent me to genetic counselingand everything else to  prepare me for my son to have Down syndrome. Well my son turned out fine. He is now 3 yrs old and completely healthy. I am now 41 and pregnant again. My dr and I chose to pass on that test because of my last experience and all the false positives it is known to have. This time we did the progenity test,which has a 99% accuracy. We did it at 10 weeks and not only was the test able to tell me my baby is fine, it also told me that it is a boy!! :) Talk to your Dr about further no invasive test and also about the genetic counseling. Even though my son turned out fine,the counseling I went through during my pregnancy really made me feel prepared for any outcome. Even though I was scared and knew it would be hard, they reassured me that it was possible and that in the long run I could do everything in my power to provide my child with the best life possible :) ... Good luck with everything, I will pray for you and your baby ❤️

[morcos]

Hi, the screening should not be interpreted alone.  The result, which only shows statistics, should be evaluated with the ultrasound results, such as the nasal bone, the nuchal traslucency and others.  Age alone triggers the result of the blood exam. Don't worry, I had a bad experience with my first pregnancy ( age 34) and this time (age 37) I did the formula thing (screening and ultrasound) and it came along fine even though just because of age I had a 1:141 ratio por SD. Wish you the best!

[lucie27]

Have you booked in for any other tests? Also they now do a non invasive test I forgot to mention. It's called a harmony test. Basically they take your blood and test specifically for abnormalities/ chromosomal differences. In they uk they don't offer it free it's £250. But this is a much safer option than the amniocentesis as your not actually piercing the amniotic sack. Hope you haven't been to stressed about the whole thing.

[lucie27]

Hi there, I had this test and my results came in at 1:2 so basically 50/50. And my son does have Down's syndrome. My friend had hers come back at 1:5 chance that her baby would have Down's and he didn't. These types of tests have a really high false positive. I know it's not the ideal thing you planned for but to be honest I wouldn't change my son for the world. Things happen a little slower but they still happen never the less. I hope this give you some comfort to know.

[yohair]

Thanks

[swatts919]

Hello so I haven't personally experienced this but my mom, my sister in law and a good friend all have and all of their babies are perfectly healthy and don't have any defects but we're feeling very scared nervous and sad and didn't really enjoy their pregnancies as they did with their other children my best advise is to pray and don't worry because they aren't always right and in my opinion it's too early to test for that stuff because all the people I've known have been put through hell and it was wrong. I'll pray for you and your baby!