down syndrome

so.. i dint find out i was pg untill 13weeks and have been told i cant sceen for down syndrome via ultrsound now as im 14 weeks and they only do it till 13 weeks. firstly i would like to know if this is true. i do not like the idea of CVS or amniocentesis becoz of risk of misscarige and i have heard blood test arent all that acurate as they have false positives and They aren't as good at detecting babies with Down syndrome as first trimester tests. im still unsure if its worth testing as im 22 and my doctor told me it not as important becoz of my age there is only 1 in 2000 chance. i guss im just looking for more information and oppionons on the tests.

carly there is a very short window for the NT (ultrasound) scan for downs' syndrome, between 12 and 13 weeks. After that they can't see what they need to see so there is no point. CVS/ amnio are far more invasive tests but as you're only 22 the likelihood of having a down syndrome baby is statistically small. Talk to your doctor about what the risks are and also the risks of any tests you decide to have.

Yes I agree with pixie - the screening timeframe is usually 11.5 - 13.5 weeks - and even at 13.5 if bubs measures bigger, they can't do accurate assessment even if dates say 13.5!!

If you have not had previous babies with DS, and given your age - I wouldn't be worried about it too much. Yes, it can still happen but the stats are very small.

At my age I think my risk was 1/180ish - but with bloods came back 1/3587 ish - so just on age alone with 1/2000 that is great. Remember, the u/s is only screening anyway and not diagnostic.

Good luck with your preg.

The NF testing shows a risk factor that can determine if more invasive testing is warranted.
Sometimes a NF test can show up high risk but testing such as amnio or CVS will rule out Downs Syndrome. The problem with these tests is that as they are invasive then there is a rick of miscarraige.

Other times the NF test shows a low risk but then other markers show that the baby does have it at the 18 weeks U/S.
They still look for these markers at the U/S even if you have a low risk.

No test is fail safe though and some babies are born with DS even though all the tests have been done.

When my sister was preganant at 33 - they said she didn't need to have the test as she isn't in the high risk category yet - I think it kicks in at 35.

I wouldn't worry about it at all. I think many of us get it done because you're having a scan at the same time anyway - so why not check. Just think of it this way - you just saved your self $100 on the blood test :)

You've missed the window I'm afraid.

If bubs is DS you would probably find out at the scan around 20 weeks as that scan usually picks up the markers. Ultrasound however does not pick up all DS cases.

The only way to know for sure is to have an amnio or CVS. The risk of m/c is quite low and it is not known if it's a real risk as women who have these tests are thought to be having a higher risk pregnancy anyway and therefore may have miscarried anyway even if they hadn't had the test.

Although at your age you are considered low risk the majority of DS bubs are born to women in their twenties. This is thought to be because women who are of higher risk (say over 35) are more likely to have invasive testing and then abort if DS is detected whereas young women often don't have any testing, or only have the nuchal test and blood test which only gives a risk factor, not a result.

By the way the blood tests and nuchal test don't give false positives. They just give you a risk factor. I got 1/37 of DS with mine which meant that of 37 women with the same result as me one of them would have a DS bubs, the other 36 wouldn't. I turned out to be one of the 36 who didn't.

There is a blood test that is done between 16 and 18 weeks that gives you a risk factor for Down Syndrome (trisomy 21), Trisomy 18 and also neural tube defects (like spina bifida).

It will give you a risk figure (like 1 in 2000 or 1 in 285) for each of the conditions. There are not false positives for this test because it doesn't say that the baby definately has the condition, just calculates the probability that the baby will based on the enzymes in your blood.

The benefit of second trimester blood tests over first trimester blood tests is that it can also give you a risk figure for neural tube problems.

Based on your age, the risk is low, but if are interested the second trimester testing is available to you.

If the risk factor came back high, you would then have to consider if you wanted to go ahead with amniocentesis to check for one of the trisomies. neural tube problems can also be detected through ultrasound later in the pregnancy.

I'm 21 and i didnt have the test with either of my two.
They will most likely pick something like that up at your 18-22wk scan anyways. Also ask yourself what you would do if ur bubs did have d/s.
I was having this baby regardless, my 20wk u/s gave me the all clear anyway.
Maybe ask about the blood test or something, sorry i dont know alot about it but thought i'd add in my 2 cents. lol

Good luck

You can asked to be referred for soft marker scan to be done earlier than 18 - 22 weeks, especially if you have concerns about chromosomal abnormalities.
The triple test is a good indicator at 16 weeks as well.

Although you are young, there are actually many chromosomal problems that are not associated with maternal age, I really don't thinkits fair that people should be told because they are under 35 they are low risk so dont worry about it. With DD I was 29 and had a 1 in 20000 risk, with D angel I was only a year older, yet we lost her due to chromosomal problems.

If you want the test done regardless of the decision you will make (believe me you dont make a decision like that "until" you are in that situation and have the results) just ask your GP for the triple test, and then take it further if you need or want too.