# which chromosome screening(s) did you do & why?



## noteasy (Apr 4, 2013)

Hi, everyone.

I'm six and a half weeks pregnant following my second round of IVF/ICSI. Hubs and I are absolutely astounded at the progress we've had throughout this round, and while we're hopeful and happy, we're also realistic. We're all too aware of the many, many hurdles that we must yet pass over to end up with the outcome we crave.

On this note, our thoughts are turning toward chromosomal screening (especially since I turn 44 in a week's time!).  I'm keen to hear thoughts/reflections/experiences of other over 40s who are either further along than me or who are parents already. 

(1) Which tests did you have done? (nuchal?, Harmony?, amnio?, cvs?)
(2) Did you have them done on NHS or privately (or both?)?
(3) If you did both nuchal and Harmony, what timings did you follow?
(4) What was your thought process in choosing to do the tests you did?
(5) Got any advice about this, generally, having been through it? We're listening...

For those who did the nuchal scan, did you do the combined test or the quadruple test? Any thoughts on this?

Just starting to get our heads around this...and could really do with some perspective.

Many thanks for what you can share.
xxNE


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## HappyGirl8819 (Apr 16, 2012)

Hi Noteasy,

Firstly, congratulations on your bfp.  

I was 39 when I had my treatment at argc.  I went to the Fetal Medical Centre on Harley Street for my scans from 8 weeks and I had my nuchal scan there too at 11w3d.  At the time, the harmony test wasn't available but I would've had that too.  I'm hoping to do a natural fet soon and if succesful I will definitely have it this time along with the nuchal scan.  Thankfully the results from the nt scan were good so I didn't need other tests but again if needed I would have.  My local hospital only did a blood test at 12 weeks so I didn't have that done as I just gave my midwife the results from the nt scan.  At 20w I had the anomaly scan (again at fmc - even though I live in Wales I was more than happy to travel to London as I just felt that they were worth spending the money on rather than just relying on my local hospital).

I'm not sure if I had the combined or quadruple test when I had my nt scan.  They take blood first then they input the results along with your age, weight, and some other data which I just can't remember  into a computer and then scan you looking for various markers.  As they find/don't find each marker the odds they give you go higher or lower.  From the blood test alone I had a 1/300 chance (my local hospital recommend an amnio for anyone having 1/250 or below) so from that alone I almost certainly would have had other tests as it was quite close but by the time they had done the other checks i.e. nt thickness, nasal bone, and something relating to the babies heart and blood flow then my final score was 1/2100.  I still went for my 12w scan at my local hospital I just didn't have the blood test done as I had total trust in the results from fmc.

Wishing you a happy and successful pregnancy x

ps. If there's any other questions you have, feel free to ask and I'll try to answer them


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## noteasy (Apr 4, 2013)

Many thanks, happygirl.

I think we'll end up doing the Harmony test in weeks 10 and 12 (privately), and then do the nuchal translucency testing a bit later through the NHS. I acknowledge there is some repeat here but seems more markers are checked when the NT scan is done as part of the Harmony test (which may partially explain the higher accuracy rate?).

All good so far. I take it day by day... Only big worry right now is getting through to Week 12 financially; we're absolutely skint after ARGC! Eek.


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## CrazyHorse (May 8, 2014)

I'm having the Harmony test done this evening, assuming the fetus still has a heartbeat in there (obviously, the results won't come back for a couple of weeks). I'm not going to bother with the NT combined test, as the Harmony test is much more accurate. If I do get an alarming result on the Harmony, I will have amnio or CVS to confirm / disconfirm the result, but otherwise plan to shun any invasive tests. I do want to have a detailed ultrasound at around 16 weeks, though, to check for major structural anomalies.

The reason the Harmony test is so accurate is that it is checking the chromosomal makeup of fetal DNA that is circulating in your bloodstream, so it is directly verifying whether the most common chromosomal abnormalities are present, rather than inferring their risk based on nuchal translucency and the serum levels of certain hormones (which are secreted in any pregnancy, but on average tend to be elevated or depressed in a Down's Syndrome pregnancy). However, you can still get false positives with the Harmony, which is why it's critical to verify a positive result via an invasive test before considering termination for medical reasons. False negatives with the Harmony are very, very rare -- if you get a result saying your fetus's risk of the trisomies is 1 in 10,000, you can be pretty confident that your risk really and truly is that low. A small percentage of pregnant women do not have enough circulating fetal DNA to get any result at all on the Harmony test, but I think that's only about 1-2%.


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## noteasy (Apr 4, 2013)

CrazyHorse, thank you! Helpful response!

I've booked in for the Harmony test (weeks 10 12). Am not sure whether the combined NT is a part of this or not... Also not sure whether we'll do the NT scan on the NHS in addition to this. Possibly.

I feel good about having this test done (though nervous for the result; I'm old). Feel very much that this is the biggest milestone to get over. Bit anxious about it but also trusting that whilst the occurrence of these abnormalities is more common in older women, overall they're rare.

Good luck for your results! xx


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