Question about scan and genetic testing

[sphr57]

Hi all,

We had our 12 weeks scan this week and everything looked perfect, however our baby was lazy and wouldn't move to have the measurement taken from the neck.

This means that we couldn't have the combined test but now will have the quad test in 4 weeks. I've been told this only tests for downs and is less accurate.

Do you know of any other tests you can have to tests for Patau's and Edwards? I only ask because a friend lost her little one to Edwards and it was heartbreaking so I would like to know if there is any possible way to know.

You can pay privately for a harmony test which is much more accurate.

You can have the Harmony/ NIPT but likely to be private so costs about £400 I think

Any private NIPT (Harmony, Panorana, Lucida) test will give you a screening result - they are not diagnostic though.
Most hospitals will run one for you at a cost - talk to your screening midwife who will advise on options.

Thank you. Yeah £400 is way out of reach for us. I was going to ask my midwife at my next appointment - I just wondered if anyone else had been in a similar situation and what they did. X

Edwards and Patau tends to have physical hallmarks that they can see on a scan at 12 weeks even when baby is misbehaving for the neck fold, so if there was any sign of that they will report that - will also be looked for during any further NHS scans you have.

A baby with Downs will usually look completely normal so won’t be picked up by a scan.

Other than private testing, the Quad screening is your only way of looking at risk for Downs (but like the 12 week one, it’s a risk and not guaranteed and I believe slightly less accurate). If it’s the other 2 you are worried about, check your scan report when that comes through and then mention in at your anomaly scan so they can really check those specific things. You could also pay for a private scan (much cheaper than NIPT/Harmony) and ask them to scan specifically looking for Edwards/Patau to reassure you that there no sign of it at this point.

I had the NIPT test on the NHS as my 12 weeks screening came back high risk. It might be worth asking about it, it’s very similar to the Harmony test.