Testing For Downs Syndrome

8 Replies
Heidi - March 16

I talked to my doc yesterday about this and she said there is a new test the Mayo Clinic and other clinics are doing for downs screening and a couple other things. She said if I wanted it done I had to do it between my 11th and 13th week so I'm going over on April 4th. I'm not really worried and I'm only 30 but I've known some women who had no testing done and their child had downs syndrome and they wished they would have known early on. I feel bad saying that but....it's my first too. I got to hear the heartbeat yesterday and she said it was a good strong heartbeat so that's reassuring. The test is an ultrasound and they check the thickness of fluid in their neck or something like that. I guess it's very accurate. I figure if my insurance will pay for it I might as well have it done for reassurance. It doesn't run in the family but I heard it's not hereditary! Has anyone had this ultrasound done in their first trimester? Am I being over cautious???

 

EVE - March 16

Hi yes i had the amnio done due to having a high risk i was only 20 at the time and my risk was as high as a 40yr old! The test was uncomfortable and after i had very bad back pain but it was worth putting my mind at rest! The only down fall was waiting over 2 weeks 4 the results xx good luck babe! Any questions pls ask xxxx

 

Heidi - March 16

This is an ultrasound I guess. I think they take blood but it's not an amnio. I guess it's pain free. Just like a regular ultrasound. Not sure how long the results take or if they'll be able to tell me right there. I'm a little nervous but I need to put my mind at ease! How come your risk was as high as a 40 year old? So everything turned out okay? Thanks sooo much!

 

Stephie - March 16

hello heidi. firstly, congrats on your pregnancy :o) the test you are talking about is called a nuchal translucency ultrasound. you are not being over cautious. the older you are, the higher your chances of chromosomal abnormalities in your eggs, resulting in increased chances of having a bubby with downs syndrome. the docs do an ultrasound and measure the thickness of fluid around bub's neck. this is why they have to do it b/w 11-13 wks, coz bub "straightens out" as it grows and they can't get a good idea of the size of the fold later on. the test does not give you a definite answer about whether bub has downs. the doc can only give you an idea of the risk factor based on the results (eg. you may be 40 and they will tell you that you have the risk of a 23 year old - pretty good). if they find your risk of downs is higher (eg that of a 37 year old) they will refer you on for more invasive tests such as an amnio (which has a chance of 0.5% - 1% miscarriage attached as a result). the amnio will tell you for sure whether your bub has downs and other things wrong. i am 40 and we are having our first, due october 7th. i am having a nuchal ultrasound on 23rd march. if the doc says my risk is high, i will take my chances with an amnio to find out for sure if my bub is/isn't ok. hope this helps. good luck. not sure about insurance etc for you guys as i am an aussie :o)

 

Heidi - March 16

Stefi - Thanks sooo much! That was great info and now that I know the real name for the test. I'll do some research on the web but you told me pretty much what I needed to know. I did hear it's not 100% but it will give you a good indication weather you're baby is at risk. Congrats on your pregnancy too! If my risk is high, I too would have the amnio done too. Thanks soo much and good luck to you!!!! xxx Heidi

 

Stephie - March 16

no worries mate, lol. i'll post again on this thread after 23rd and let you know exactly what was involved, and also whether they can tell you what the result is on the spot or if you have to wait some time before you know what the risk is. i know you have to wait at least 2 weeks with an amnio or CVS. bye for now. xxx

 

Heidi - March 16

Thanks. I'd like to hear how yours went! Keep us posted!

 

melissa - March 17

I've heard it's a good test and more accurate than the triple screen for detecting down syndrome. If your ins pays for it why not....heck - it's a free ultrasound!

 

Debbie - March 18

My fifth child has Down Syndrome. I had a level 2 us at 18 weeks. I was 39. The dr. could tell that my baby has some kind of a chromosomal defect, he said most likely DS and a rare and severe heart defect. I chose not to have amnio because I felt God made my baby exactly how he planned him to be for a reason. Gabriel is now 16 months old. He has been a complete blessing to his family and everyone who knows him. I have big dreams for him. He has received therapy since 3 weeks and amazes everyone with his cognitive abilities. We are teaching him his colors. He can say and sign 3 of them already! I wish I had known what a joy this baby could be on that fateful day of that ultrasound. We are considering adopting another baby with DS. God makes no mistakes.

 

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