Prenatal testing: Array CGH

[TheJuniperTree]

Hi everyone

I'm looking for some advice.

My DP and I are looking to start a family in the next year or two.

DP has a family history of ASD, both high functioning and severe, (although DP himself is not affected) and I will be 37/38 when we do start TTC so I am very aware of the increased risk my age places on a pregnancy in terms of potential genetic abnormalities.

I've been doing done research online about the prenatal tests you can have done to detect not only the three main trisomy conditions but also microdeletions now recent studies suggest these may cause or contribute to a child having ASD.

The test I've come across is called an Array CGH (also known as microarray).

Has anyone had this test? How did you have it, was it offered routinely or did you have to go private? It doesn't seem clear whether the test is routinely offered for expectant mothers over 35 or how you can elect to have it.

If you have had the test what did it show in terms of risk of your baby being affected by ASD?

Any advice would be great. Thank you all.

The way to get a microarray done antenatally is to have an amniocentesis or CVS done. This is only offered on their NHS if there are risk factors or anomalies noted in a scan I believe. You can pay privately though. Ruling out (currently traceable) genetic anomalIes would not rule out the baby having ASD though. But if any microdeletions were found, they might be associated with a greater risk of having ASD.

As PP said - I think you’d have to go private. If you were going to do that it would be worth trying to speak with a geneticist beforehand. Has anyone in your husband’s family ever had any genetic testing? If anything was detected in them, then it would be worth talking to your/your husbands GP about a genetics referral as well.
Microarray testing would be something to be very careful about - can open a can of worms. when microdeletions/duplications are found it is often very very difficult to know what the exact implications would be - often it can be a “variant of uncertain significance” where no one knows if it is a problem or not, or it might be associated with a particular condiditon but you wouldn’t have any information on how severe it would be for your child. Even when it’s done with a reason such as an abnormal screening test or scan finding, it can be difficult to interpret. So it’s worth thinking what you might actually do with the result and whether it is worth the extra possible anxiety. A clinical geneticist would be able to talk you through all this - but I have no idea how you would access one for this, hopefully someone else has more info :)