Harmony Test

The Harmony test is an alternative to the combined and quad tests offered by the NHS to estimate the chance of an unborn child having one of three key trisomies (extra chromosome). Specifically it checks – like the NHS tests – for Down’s syndrome. Edward’s syndrome and Patau’s syndrome. It also allows checks on the normality of the sex chromosomes and, should you wish to know, indicates the sex of the baby.

The Harmony test is available privately. Often people may choose to go for it if the combined test is not possible (the baby isn’t in the right position during the 12-week scan) or because it provides a better estimation of the chances of the baby having any of the above trisomies (and isn’t an invasive procedure). It would typically be used after the combined/quad tests as it provides a more accurate estimation.

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GCSE Biology (Genetics) folks!

The harmony test requires some blood to be drawn from the Mother. This contains fragments of the baby’s DNA. As the test is targeted for this DNA, that’s why it provides a better accuracy.

We decided to get the Harmony test done as during our 12-week NHS scan it was not possible to do the combined test as the baby wasn’t in the right position for the Nuchal Translucency Test. As such we had no measure and the quad test which would have been offered is even less of an indicator than the combined test (only blood testing, no translucency scan). We were fortunate enough to be in a position to do this.

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Harmony was a character in Buffy the Vampire Slayer. She is not part of the Harmony test.

Final thing to note – it’s still just a risk assessment. It is NOT a diagnostic, just as the combined test is not. For that amniocentesis or Chorionic Villus Sampling (CVS) is required.

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Coincidence, or Serendipity?

Coincidence:

  • A remarkable concurrence of events or circumstances without apparent causal connection.

Serendipity:

  • The occurrence and development of events by chance in a happy or beneficial way:

Today we told some very good friends our news. We’ve known each other since Uni and the chap and I were each others Best Man at the respective weddings. We knew they’d been trying for a while – like us. We didn’t want to tell them in person, so they could react however they wanted to rather than having to be happy, even if you’re not as the news isn’t yours.

serendipity

Say hello to Serendipity 3, a burger available in Caesar’s Palace Las Vegas.

Turns out we needn’t have worried. Their response to our news, that my wife is 14 1/2 week’s pregnant, was that they were 20 weeks pregnant!

They live nearby and this means we can compare notes and try to learn to be Mums and Dads together. It’s pretty cool. Coincidence? Not in this case. Definitely serendipity.

friends

Reminders are helpful things.

Nuchal Translucency (NT) Scan – What is it?

Every pregnant woman in the UK is offered – typically as part of her ’12 week scan’ (which can be anytime between 11 and 13+6 weeks) – to assess the risk of the baby present of having Down’s syndrome, Edward’s syndrome or Patau’s syndrome.

Patau’s and Edward’s syndromes are very rare and usually lead to a miscarriage.

The test itself is what’s called a combined test, given it comprises two parts – the NT scan and a blood test. The NT scan is done during the 12 week/dating scan as mentioned. The sonographer will do a few things at this time. They’ll date the pregnancy by measuring the Crown Rump Length (CRL) – effectively bottom to head(!) – and check for any abnormalities in development presenting to date, i.e. check spine, head, limbs, hands and feet.

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An ultrasound scan. Fairly representative of reality.

If the baby gets into the right position they will then measure the width of the Nuchal fluid at the back of the baby’s neck. This width measurement, along with various other measures (mother’s age, blood test results and so on), will be used by the clinical staff to assess the risk of the baby developing any of the above syndromes mentioned. There are normal NT measurement sizes. I’ll not note them here, but instead provide a link to a great page referencing this. I won’t detail them here as it’s one part of the overall risk assessment and normal means statistically normal, not definitively normal.

And that is the key point. I must reiterate that the combined test, incorporating the NT scan, is a risk assessment. It is not diagnostic. There are two tests which will provide the definitive answer as to whether a particular baby has any of the above. That is amniocentesis and Chorionic Villus Sampling (CVS). If the combined test indicates a high risk, the parents may choose to have one of these tests performed.  Each has a 1% risk of miscarriage.

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I didn’t know what picture to use, so told Google that, and this is what it returned. Nice.

There are alternatives to the combined test offered by the NHS (if the NT scan isn’t possible) and privately. They are for another day.

What a crazy week!

So the past 7 days or so have been manic. I cam home from my work trip to Germany and watched Liverpool draw away against Borussia Dortmund. The weekend came and went as you might expect it to (read: chores, exercise and football). Then it was our 12 week scan.

This was good, and not so good. The good part – everything was completely as expected at this stage of pregnancy. This was awesome to hear. But we couldn’t do the Nuchal measurement and had been expecting that. So that left us feeling a bit down coming out of the scan. Sounds silly? Yes, in hindsight. But we’d gone in with expectations and these hadn’t been met. Given my wife’s age this was something we were very interested in.

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“You can’t fight in here – this is the war room!” Perhaps I needed one for my chat with my Mum

Now comes some of that referred to in an earlier post. My Mum had asked – nay, told me to let her know how it went straight away. So I did. I tried to explain it as we saw it. Turns out, after talking with her, my dad, and her again the next day, that they don’t care about what we hadn’t seen nor what it might tell us. They wanted to hear what we had seen – which was good news – and enjoy it. This whole palava got me into trouble with my folks (great – teenager again!) and got me down for a day or two.

Anyway. Got that sorted. Then Wednesday night we had managed to book ourselves a Harmony test. Another scan, some bloods drawn from my wife all with the aim of checking for the abnormalities the Nuchal test would have shown. I’ll have to detail both the Nuchal test and this in more detail in a coming post – educating potential fathers remember! At the same time my wife was experiencing some pain, and spotting.

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For some reason the name Anti-D just makes me think of Biohazard (mainly the game – or Resident Evil as it’s known outside Japan)

Thursday AM. My wife had called the midwife and we’d been advised to go to A&E. We spent the day at the hospital. Various assessments, scans and other tests. Two root causes for the pain and spotting. Both expected/normal things. An injection of Anti-D (spoiler: it hurts. So I hear) – again, to be explained in more detail soon – and then home, happy with the way the NHS looked after us and reassured that all was ok. Tired after a long day but happy as we got a bonus Nuchal test from the scan at A&E. This made us both happy.

Then we told our family. Our folks knew, but not my Aunt and Uncle, Brother nor sister-in-law. They do now. Surprise, happiness, shock and some level of expectedness / question as to why it took so long (various reasons other than choice thanks very much!) was the response. Regardless, it’s great they all know.

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What. A. Game.

And then, after a lovely dinner, I got to watch the return leg of the Liverpool vs. Dortmund European tie. A wonderful, but totally crazy (and entirely in-keeping) way to finish the 7 days or so. Phew.

Frustration City!

When I started this blog it was with the intent to share my knowledge and learning as I become a Dad. I know/knew nothing and need/needed to; in time perhaps someone else will benefit from the work I’ve done/am doing.

As I got through a few posts I realised this was also a great way to talk about things without talking about them. Not that I didn’t want to, and of course I do, but breaking the ice by saying things here makes it easier in other ways. In fact, this might have been the reason I started with the education a result of that.

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Not the Crown Rump but still mighty fine

Anyway, I have some stuff to talk about in detail. I need to understand them fully first though. Harmony, Nifty, combined and quadruple. We’ll get to those. Continued morning sickness. I also have to talk about our 12 week scan today (precis- everything was as the clinical professional would have expected to see; CRL, or Crown Rump Length was around 74/75 mm!), but I need to talk about the multiple conversations with the folks. My folks, specifically.

You see, I’d been told in no uncertain terms to ring my Mum as soon as the scan was done. We told them a few weeks back as we saw them in person, but no-one else. I think my Mum really wants to talk to other people about it. Anyway, the conversation didn’t go so well. Later on my Dad called. That went rather less well in hindsight. Just about got it off the top of my mind by now, but it’s still there.

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Yeah, we will Mr President. Just give us tonight.

So frustrating. Everything they say is with the right intent. But it fails to recognise what we’re saying, thinking or feeling. It’s unhelpful as we want everyone to be happy and understanding. Gah. It’ll be fine on the morrow but right now it’s just frustrating.

Die Hard

This is probably quite sad. As I mentioned before we have our 12 week scan on Monday. If all goes well we might be telling people our news. Is it weird that I’ve been thinking about this, and have a way I’d like to say it (for when it’s my communication alone, not ours, obviously)?

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Al Powell. A hero. Twinkie-less.

Unsurprisingly for me my inspiration is from film, and specifically Die Hard. It’s the greatest action movie ever made and one I long to be able to introduce a future child to. In it John asks Al how many kids he has. The answer?

“As a matter of fact, my wife is working on our first.

diehard

“Come out to the coast, we’ll get together, have a few laughs…”

I can see it now. It’s kinda sad to think about this, but telling people you’re gonna be parents is not in anyway sad. And doing it right is important. Right is subjective. This is where I sit. Let’s hope we get to argue this and go ahead in the days to come 🙂

Home Sweet Home

I’m back! The week travelling with work was hard, but useful. I did spend all the time wanting to be home though!

Monday afternoon marks our official, NHS-sponsored, ’12 week scan’. A 12 week scan can happen any time between the 11th and 14th week though. We believe we’re entering the 13th right now.

home

I was literally as happy as this little guy

It’s a big moment as if all is well we can be confident things will go ok. Granted there are a lot of other questions which need to be answered with various tests and the 20 week scan, but if the 12 week shows things are ok then historically it’s time to tell people if you’re ok with that.

I think it will be nice to tell people, but we might still leave that for a while. But really I think it will be nice for us. We still don’t quite believe, and this – if it is promising – will start to change that mindset. It will make it truly real. That could be a scary thought. But it’s not you know? It’s an incredibly exciting one. So here’s hoping.

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A model of reality. The R-squared value is pretty high tbh

Travelling With Work

I used to look forward to this. Get away from the usual grind at the office, visit new places, eat the local cuisine (steak with red wine, ideally) and so on. It was great, or at least seemed so and therefore I made the most of it given I was having to do it anyway.

Tomorrow I go away for much of the week to Germany with work. Now, aside from the fact I forgot that I’d be in Germany when Liverpool FC is, and therefore couldn’t get hold of any tickets for when they play BVB 09 in the Europa league as I was too late (drat), this trip is not one I’m looking forward to in the same way I used to.

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The fantasy.

Quite frankly it’s because life has changed, priorities are changing and my wife is around 12 weeks pregnant. I don’t really want to leave her alone. She’s still getting nauseous, struggling with energy levels and so on. But we spoke about this trip before I committed, and it should benefit me in a new assignment I am starting soon at work. So it makes sense to go. But I don’t want to like I used to want to.

What we did do though is make sure our NHS “12 week” scan is happening after I get back. A week tomorrow in fact. Now that’s something to look forward to. Make the most of this week which is happening. Prepare things for my wife’s few days home (shopping done and tomorrow’s dinner cooked already). Get back, enjoy the weekend and get ready for the scan. It’s one of the big ones.

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The reality.

Limbo

My wife said to me today that she looks forward to any of my posts here and specifically chooses to keep them until morning so she has something to look forward to as she starts each day. Only I don’t post every day, alas. I’d like to, but I need something to actually say rather than just waffling for a few hundred words!

amazing_hoff

Did you know the Hoff is the reason the Berlin Wall came down? We’re doing the limbo dance Sir.

Now is an odd time to be honest. We’ve told our parents which is great. We’re waiting for a scheduled 12 week scan which is also great. But given our history – 4 years wanting to have children and a miscarriage – we can’t really get too excited about things, nor can we start doing things for the baby’s arrival, as opposed to just doing things (like those damned internal doors we need!).

So what can we do? Keep on moving I guess. Stiff upper lip and all that. We can keep doing what we are doing. Feeling excited, tempering it and looking forward to that scan. And worrying about it. Then we can tell people, worry about the 20 week scan and so on. Basically, it’s all a worry from here, right?

office

Memes are great. But to be fair, this isn’t why we’ll move the office, it’s because it’s in the future child’s (hopefully) bedroom right now!

I jest in part. I seriously think that come 12 weeks, if all is good – a big IF – then we can start to look forward and prepare. That means office moves, baby-names, doors go go go and more. This excites me. It might also mean my wife gets over the sickness part of things. I do hope so, for her sake.