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Downs Syndrome tests

(13 Posts)
mummyamy12 Thu 24-May-18 14:11:46

Hi All,

Yesterday i had my 12 week scan, baby looked super healthy on the scan and you could see the perfect little heart beat. However my nt was 4.3 and after blood testing i was given a 1 in 5 chance of my baby having down syndrome. I am only 20 years old so this news comes as a big shock to me and my fiancee and i find myself all over the place crying ext.
Did any one else have any results like this and did you go for the detailed testing.
I am very aware of the risks and terminating is not an option.

Would love for any support from anyone who had the same situation or similar. Bad or good smile

Eryri1981 Thu 24-May-18 14:22:40

You have an 80% chance of having a baby without downs syndrome... keep telling yourself that whilst you take a bit of time to consider all your options

The8thMonth Thu 24-May-18 14:38:14

I recently had an amniocentesis because I live in a country where they don't do the NT test and I'm an older mum.

If you would not terminate in the case of Downs Syndrome, then there really isn't much need to to go down the amniocentesis or Chorionic villus sampling (CVS) testing route. You don't need to take on the extra risk of a miscarriage.

That said, there many statistics are out there on miscarriage rates due to amniocentesis and CVS. Some are quite old but are still quoted to mums. If you do get either test then it is worth enquiring how much experience the doctor has of doing the procedure and what their miscarriage rates are. Worth doing your research around the risks.

One reason I did the test was because my risk of Downs Syndrome was higher than the risk of miscarriage, based on my age alone.

As for the actual procedure, I found it a bit uncomfortable and had discomfort for about 48 hours. I was also monitored afterwards for about an hour in the clinic. You need to take it very gentle afterwards. I just sat in a car while my husband was driving but would rather have been in bed.

After two weeks of waiting, I got results back as negative for Downs Syndrome.

All the best with making such a tough decision...

mumofmunchkin Thu 24-May-18 15:18:23

If you know you would keep the baby regardless, then personally I wouldn't have amnio or CVS because of the miscarriage risk, however small it is. If you can afford it, you could look into the Harmony test, which is non invasive so doesn't have the miscarriage risk, but I think you would have to pay for it to be done privately.

Emma198 Thu 24-May-18 18:01:23

I'm the same - if you know you would keep the baby anyway then i wouldn't risk the diagnostic tests. Sorry to hear your news, but remember that's still a 4/5 chance that your baby doesn't have downs syndrome x

Emma198 Thu 24-May-18 18:03:01

Sorry, I meant I'm the same as PP above in terms of my opinion x

Havetothink Thu 24-May-18 18:12:25

I think (but not certain) that there are a few potential physical problems associated with Downs, heart conditions etc so while you wouldn't terminate, it could help you baby with the getting the proper care straight away if you knew for sure. Not an expert though so I think a decision either way is very understandable.

Pebblespony Thu 24-May-18 18:18:04

If it's upsetting you, can you go for a harmony test as pp have said? It might put your mind at rest. If it's negative, then you can stop worrying.

mummyamy12 Fri 25-May-18 06:15:00

Thanks all you lovely mum's 😗
After a long conversation with the other half we have decided that extra testing is not worth the risk. This baby was made in love and will be brought into this world in love 💕
It is scary the unknown but that's as it shall stay the unknown for now

ohlittlepea Fri 25-May-18 06:30:26

Hi MummyAmy, congratulations on your pregnancy! just to say the downs syndrome association has loads of info if you are looking for more. You can ask your trust about the harmony blood test which doesn't pose a risk to baby in the way that the other diagnostic tests do if you wanted to know a bit more more earlier. My family member with Downs Syndrome brings me so much happiness! Best wishes with the rest of your pregnancy and with your lovely baby!

Grumpos Fri 25-May-18 10:21:24

Even if you decide not to go for diagnostic testing you can still research and investigate the extra care your baby might need when they are born. In this way you are prepared and if may ease some worries.
you are right to say you will love your baby no matter what and of course you will, but being armed with knowledge of potential scenarios is just good sense!
All the best for you and baby!

Buxbaum Fri 25-May-18 10:54:45

Sorry that you’re having to deal with this, OP. I completely understand your decision to decline invasive testing. It is worth asking if your trust funds non-invasive prenatal testing (NIPT), such as the Harmony test mentioned by PP, if you wish to be prepared for possible eventualities.

Bluebirdsky Fri 25-May-18 13:21:27

It's a very personal and individual decision based on your individual beliefs, circumstances etc. There are definitely no right or wrongs when it comes to this type of decision.
There is a great charity called Antenatal Results and Choices (ARC) who have lots of information on line but also a helpline with brilliant people that you can talk to, would highly recommend them.

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