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High risk quadruple test v low risk Harmony test

(9 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.

Claireabella123 Thu 20-Apr-17 11:38:15

Hello ladies, I have just received news that my Quad test has come back as 1:96, i.e. 'High Risk' for DS but the Harmony test we had mid-March came back as 1:10.000, i.e. 'Low Risk'. I am now at a loss of what to do. I have a copy of my quad results so have looked at the numbers and they seem to be 'ok' compared to what is known as 'normal' so not sure why I'm at high risk. I think it is more my age (42) that is affecting the ratio (I will be speaking to the screening dept. shortly about this). My question to you ladies is, does anyone know of anyone who has been in a similar situation and gone on to have a healthy baby? It's so hard not knowing if baby is well or not - which test do you believe? But it would be nice to hear some success stories. xx

SarahOoo Thu 20-Apr-17 17:37:33

From my research and on here, the Harmony test is very accurate, it is still a screening rather than a diagnostic like the CVS or Amniocentesis but there is no risk of miscarriage.

We had a risk of 1:85 for Down's Syndrome back in October, we had the CVS and this came back negative. I'm currently sitting next to my 9 day old baby girl. It was a very hard time as the combined screening had a high NT of 3.4mm and my blood results were about half of what they should have been.

As suggested above I would be looking at the Harmoney results, so far I've never heard of a false negative.

Claireabella123 Tue 02-May-17 09:23:57

Thank you so much for your response SarahOoo. I am starting to feel better about things now. After speaking to the screening department, the Harmony lady and my midwife, they have all assured me that the Harmony is very accurate and infact in time the Harmony will be used instead of amnio. I now have my 20 week scan on 12th May where they will look for any DS markers etc. Gosh this is such a difficult time, I'm happy one minute and then i'll wake up in the night and start thinking things the next minute, I do hope everything is ok as it would be an absolute blessing.

Moluka Fri 15-Sep-17 08:32:14

Hello @newtothis33,

What was the outcome of your situation?

I guess you probably have the baby by now. Just asking because I am exactly in the same situation as you. They could not do the 12 week scan due to my baby's position so they asked me to come back to have the quadruple test 2 weeks later. My husband and I then decided to have the harmony done and were hopping to get the results before the quad test. However the Harmony results got lost in the post and we went to the quad test without those results. So they went ahead and did the quad test. The midwife warned me that the quad and the harmony might get contradictory results but I was not worried at that point. In the meantime, I managed to get a copy of the harmony results and found these were "low risk". Then a couple of days letter I get a phone call from the NHS lab to tell me the quadruple test was high risk (1:5 chances of DS) - 20% chance. Because the Harmony test were "in 1st", I am now very confused and trying to get a response from anyone.... no one has been able to help. All I get is "is your call" this comes from my midwife and the lab people.

We are seriously thinking about going for the amnio test but are worried we could end up miscarrying a healthy baby. Also scared the results might prove is actually down syndrome.... assuming the harmony was wrong. What puzzles me is the harmony us 1:10,000 and the quad is 1:5... Massive difference. help!

Moluka Fri 15-Sep-17 08:33:50

Hi @Claireabella123,

How is your pregnancy going? smile

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