Harmony and sex chromosome testing

[wombats]

I've just had the Harmony and elected not to know baby's sex. Low risk for the three major trisomies, thankfully. However, learned that if I had ticked the sex box, would also have had screening for sex chromosome abnormalities. Clinic (FMC) said they didn't know whether it was possible to now run the other tests, anyone have any experience? A bit frustrated they didn't tell us from the outset that the other abnormalities could be screened for.

From what I've read based on other posters here, the sex chromosome test part of the harmony is often inconclusive and leads to more worry not less. Sex chromosome anomalies are very rare and the main (only?) one is Turner's which, as chromosomal conditions go, is very mild. I wouldn't worry about it.

Thank you. I've just looked up some studies that seem to say the same thing. Sounds like the accuracy just isn't there so better to avoid extra anxiety! Thanks again xx

@wombats how long did you wait for your results? We've just had the test at the weekend so currently waiting. We've asked for the gender but no gender abnormalities tested for as it can be less accurate. Did you have a high risk from the combined test before hand?

@ER1212, I was told results would take two weeks and would be given at my NT scan. I requested they ring me earlier as the scan was delayed, but because I was anxious, I rang them abut 7-8 days (including weekend) after the bloods were done and they gave me the result over the phone.

@wombats thanks for your reply, hopefully a couple more days to go, we've already had the nt scan last week and got higher risk for downs (1 in 144) so booked for the harmony privately. Said we'd just get an email with results.

The testing has a very high false positive (or false high probability) rate. Often the sex chromosome can be confined to the placental cells. I wouldn't bother.

High rate For the sex aneploidies i mean! It's quite accurate for the main trisomies.