Harmony test - detection rates

[grace11]

Hello,

I posted a thread on here not so long ago about a nightmare nuchal screening where my baby came out as high risk for trisomy 13. I opted for the Harmony test, not CVS, as I had a hematoma (blood clot) below the womb and my miscarriage rate was increased. The Harmony test came back clear - very low risk - but I couldn't help feeling suspicious because of what had been found on the scan (no nasal bone, high heart rate and reverse flow in liver).

I had very sad news on Monday, at 15 wks they couldn't find a heart beat at the EPU (I just knew something was wrong so went in). They told me that the Harmony test (this is from Kings College hospital London who have been trialling it for some time) that it's really designed to pick up Downs and isn't strong enough to detect trisomy 13. Of course I don't know yet if my baby had trisomy 13 but it looks pretty likely - I'm waiting for genetic test results now following a very sad surgical procedure.

So I just wanted to share this in case anyone is going through something similar - trisomy 13 suspected - and they are thinking about paying a lot of money for Harmony. My advice would be if you know you couldn't face carrying the baby with trisomy 13 (most die before they are born) then CVS is the definitive route.

x

[CrispyFB]

I am so so sorry for your loss. What a horrible shock especially after you thought you had the all clear.

I am a huge advocate of Harmony and tests like it, but only for T21/Down Syndrome where it is as close to diagnostic as amnio as you can get without splitting hairs. There's the odd false positive but that is less concerning than false negatives.

However as you know the hard way it can detect T13 but it is not nearly as reliable and I guess you had a false negative. They really should have given you the statistics before you did the test.

According to their own data, only 8 out of 10 babies with T13 are spotted: www.labcorp.com/wps/wcm/connect/40689e004bd80183a257f2b31ffc0221/Harmony_MD_brochurerep_617_iv6_091813.pdf?MOD=AJPERES so given you had several markers, they should really have been more cautious when giving you the results. You were right to feel suspicious.

Again, I am so sorry

[Melons79]

So sorry for your loss. The statistics are out there, harmony is very accurate regarding trisomy 21 and less so for 13 and 18. So although a very welcome non-invasive test it is not giving you the information that CVS can. I do think that people having the test are not always aware of this even though it is in 'the small print', of course it is natural to take the 1:100000 as a statistic for all of those syndromes. Take care x

[grace11]

Thank you - it's been really horrible - such an emotional roller coaster. They did say 89% for trisomy 13 when I opted for it but then also said my miscarriage rate was higher for CVS, so I wasn't sure what they were suggesting really. After I'd gone through with the Harmony test I realised that the result, even if low risk, wouldn't be enough to reassure me and convinced them to do another scan at 16 wks (and based on that possibly have an amnio). I'm devastated by what has happened but in a way it ended up being the best route for me as even if I'd had the definitive answer I wouldn't have known what to do. xx