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Trisomy 21

I've received a copy of a letter that my obstetrician has sent to my GP mentioning a diagnosis of Trisomy 21 and AVSD. We knew about the AVSD (hole in the heart) but when I looked up Trisomy 21, it means Downs Syndrome. We didn't have amnio or the other test to confirm Downs as the risk of miscarriage was too great (this is an IVF baby and too precious to take the risk) and a 4D scan shows no facial characteristics of Downs, so how on earth could they make a diagnosis like that? Has anyone else had such a diagnosis? As it's the weekend, I can't speak to anyone at the hospital but I'm hoping it's either a mistake or it means something else. Don't get me wrong, this baby will be loved and doted upon regardless, but I'm just daffled that they can diagnose something which hasn't been proven.

4 Replies


At 12 weeks I had an ultrasound scan and a normal blood test, to look at the likelihood of downs, for me it's would be a very rare chance. How comes you didn't have this done? No risk at all.

My sister has just given birth to her first ivf baby, he had a hole in his heart but now it as healed at 4 weeks of age:)

In regards to the report, if u did not have any tests done, then they use your age at conception to predict the likelihood of downs, I'm 33 so without the 12 week scan, measurements and blood test my chances would have been high, but with the tests done my chances are very low. The measurements they take is of the bridge of the nose:)

Hope this helps :) good luck with your pregnancy


Did you have your 12 week scan and 'combined test', or a later 'quad test' or did you opt out? They make a calculation based on these tests to work out your risk of a baby with certain conditions is - depending on whether you have the combined, triple or quad test they work out a risk score for Trisomy 21 (extra copy of chromosome 21 or Down's Syndrome), Spina bifida, Trisomy 18 (extra copy of chromosome 18, or Edwards syndrome). It is however, ONLY a risk. Some mums will be screen negative and have a baby with one of these conditions and some will be screen positive and have an uneffected pregnancy. This test is usually used to inform a decision as to whether to offer someone an amniocentesis or a chorionic villus sampling test. Having a pregnancy with a structural abnormality does make it slightly more likely the problem will be part of a syndrome or some description, but is not conclusive by any stretch of the imagination. As mentioned above, holes in hearts (and other structural abnormalities) are seen more frequently with IVF pregnancies, and may resolve on their own or be able to be dealt with surgically at a young age with an aim of preventing any longer term health problems.

Also, take what 'low' and 'high' risk means. My combined test put me at 'low risk', but the risk is calculated against your age so, although I am a low risk 36 year old - all that means is my risk is lower than expected. My actual risk if I compare it to the risk tables is the same as a 32 year old, which is clearly much higher than for a 25 year old, so everything is relative!

Comtact your obstetrician on Monday and ask for clarification - obviously no one on here can tell you how to interpret the letter save for the person who wrote it.

Hope things work out


Useful documents on Antenatal Screening (from the centre that developed both tests and is an internatonal centre of excellence for epidemiology):

Combined test:

Quad test:


PS - a 4D scan would not tell you if a baby has Down's or not. Down's is a spectrum disorder and has a really variable effect on both physical characteristics and mental capacity.


What did they say? X


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