High risk quadruple test v low risk Harmony test

(4 Posts)
newtothis33 Tue 26-Apr-16 12:42:52

Hi all, I was hoping I might be able to find some reassurance about my resent test results.

I fell pregnant in January after having a miscarriage last November. I will be 39 when the baby is due. However, I was unable to have the combined screen in the first trimester as the baby was in the wrong position. Instead, I had the quadruple test. The results from that were that we had a 1 in 12 chance that the baby would be affected by downs syndrome which was very worrying. We had been thinking of having the Harmony test anyway and were already booked in to have it a few days after getting the quadruple results. After 7 days, we got the results from the Harmony test that the baby had a 1 in 10,000 risk of downs syndrome which was obviously great news as the screening is meant to be over 99% accurate in detecting downs syndrome.

However, I know that the Harmony test is a screening test only and tests the DNA in the placenta rather than the baby’s DNA and that the only way to tell for sure is to have an amniocentesis. There is obviously a risk of miscarriage with the amnio but despite the Harmony results, the 1 in 12 chance we were given from the quadruple test is niggling away at me! We are yet to have our 20 week scan and I know you can’t tell chromosomal problems from the scan as such although I thought they might look for soft markers but the midwife at the hospital said they don’t really do this?

I know false negatives are meant to be very rare with the Harmony test but has anyone ever experienced or know anyone who has experienced a false negative? Have any ladies that have had Harmony test just gone with those results and ignored high risk NHS screening results and everything turned out ok?

Thanks in advance for any replies

KittyandTeal Tue 26-Apr-16 17:25:12

I have no experience of a false negative however I would say harmony tests are highly accurate for the major trisomies and the quad test is renowned for producing false high risks (hence it being dropped for the majority of women in place of the combined screening)

Personally I would ignore the high risk screening. Have you spoken to your screening midwife?

I can recommend arc, they will have better advice and are wonderfully supportive and well informed.

newtothis33 Tue 26-Apr-16 17:59:29

Thank you KittyandTeal. I have spoken to the midwife who seemed reassured by the harmony result. I think it would reassure me further however to know in what circumstances people have had a false negative but the info on this is sketchy. Thanks for mentioning ARC, they have been recommended to me by the midwife and I keep meaning to give them a call but they are only open Monday to Friday when I am at work but I will hopefully get some time this Friday.

KittyandTeal Tue 26-Apr-16 20:21:50

I'm sure other false negative stories would help put your mind at rest.

You can email arc out of office hours if you cannot call while at work. I emailed as a first contact.

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