Down's syndrome testing cvs/amniocentesis

heyyitselliee

midwife has asked and I'm really not sure, it wouldn't matter whether baby had Downs or not to me so why test? But had other people telling me might be better to know so I can prepare myself if baby has downs, and would put my mind at rest if he/she didn't. Opinions?

revlaurawittman

I haven't done any of the testing before, but I plan to do the NT scan this time around.  We won't do anything if the scan doesn't look good either but it would be nice to prepare if something is wrong.  The other thing to check, though, is whether your insurance covers those things.  It may affect your decision.

noahsmommy527

Ive had both the NT Scan and Harmony chromosomes blood test done to determine chances of down syndrome. Both were non invasive. Harmony test also confirmed a boy even before i went for any ultrasounds. So, please let them know if you don't want to find out the gender. Was nice putting my mind at ease with those test. I didnt do the amnio or cvs testing which are both minor procedures. My dr said theres a slight chance of MC with both of those test so i didn't do them. I figured the first two test gave me enough info so no sense in putting myself or baby through more testing. We woulda been ok either way, but for us to prepare, it helped knowing.

irishblessing78

We are planning to do the Harmony test. For the same reason as others, I just want to be able to prepare if need be. I am 37, so my insurance will cover it. I figure it is another thing that helps give me peace of mind.

heyyitselliee

I live in the UK so medical insurance isn't a problem I can have blood tests for me and my partner to test for any genetic abnormalities that may be present, and have the anomaly scan at 20 weeks, and a quick look for any obvious abnormalities at the 12 week scan, it's difficult to decide whether to have the blood tests that may reveal anything and the possibility of being given a high risk, but I'm not sure whether to proceed to do the amniocentesis or cvs after that the confirm or deny, because then I'd just be left in limbo if given a high risk result. It's difficult to choose what to do, have a feeling my partner what's to do the blood tests, but I'm unsure because to be having a downs baby or not wouldn't make a difference to me anyway

4puddleducks

I plan on having the standard 20 week anatomy scan. Additionally, they will be sending me for higher level scans with Maternal-Fetal Medicine since my first pregnancy ended up high risk. I would not choose to have an amnio unless medically indicated. I had one in my first pregnancy to determine whether my son's lungs were developed enough for immediate delivery. The process was scary and kind of painful. I really trusted the Maternal-Fetal medicine specialist from a large health system, but I still knew something could go wrong. Just not something I would do again unless medically indicated.

kidcapri100

I think this is really a personal decision. Ask yourself what would you do with the information once you have it?
Personally my husband and I are planners and would like to know if we are going to be up against any challenges. We are opting for the Progevity blood DNA/chromosome test (I assume the same as Harmony?) at 10 weeks. Our insurance doesn't cover it but the peace of mind is worth it to us.
Again, it's a completely personal decision that you and your partner should discuss before making any decisions!

musicsmysoul

I've heard that the NT scan can stress people out for no reason because a lot of the results are inaccurate. That alone makes me wonder if it's a good idea for me to get it. I'm a very anxious person (not pregnancy related), so I don't know if it's the best thing for me. On the other hand, it would be nice to be prepared. 

kstahl01606

I had the NT scan with my son, this time we will do he Informaseq bood test. I think it is better to be prepared than surprised by that regardess of what you would do with the info. They are non invasive so why not test...

heyyitselliee

In England from what I have been told so far I can have some blood tests that will give me a range so like a low or high risk (midwife said will be like 1 in 50 chance of 1in 1000 for example) not sure there's a blood test to determine for sure seems like I would have to have amnio test to know for sure? What's the harmony blood test? Wondering if it's worth going private to have maybe some more In depth blood tests?

SilverRayn

I'm going to do the ultrasound and the non-invasive blood tests.  *If* those come back high risk, I'll see what we need to do from there.  We have an appointment with a genetics counselor who is going to discuss the results of the ultrasound and blood test once they're available, so I'm guessing I won't really make a decision until we talk with her/him.  We're both older, and we both have a random assortment of birth defects on both sides of our families, so we want as much information as we can get without putting the pregnancy at risk.

sbost0118

I always felt the benefit didn't justify the risk of the amnio. There are several less invasive tests out there. An amnio would be my last resort if other screenings came back with bad results.

kstahl01606

heyyitselliee said:

In England from what I have been told so far I can have some blood tests that will give me a range so like a low or high risk (midwife said will be like 1 in 50 chance of 1in 1000 for example) not sure there's a blood test to determine for sure seems like I would have to have amnio test to know for sure? What's the harmony blood test? Wondering if it's worth going private to have maybe some more In depth blood tests?

Harmony and Informaseq are blood tests that are drawn from you like a normal blood draw.  I think somehow they can now isolate the baby's DNA and determine risk of certain conditions.

informaSeq^SM Prenatal Test - an advanced, non-invasive, next generation prenatal screening for T21, T18, and T13 chromosomal aneuploidies that can be administered as early as 10 weeks gestation.

It can also tell you the sex of that baby as early as 10 weeks!