On Testing High Risk for Chromosomal Abnormalities

On having a high risk combined nuchal test during pregnancy

Wednesday 12th May.

The perfect twelve week ultrasound scan. Everything where it should be; everything the size it should be; everything beating as it should be.

"I have no concerns about your baby," says the sonographer. "It looks very healthy to me."

And then she asks us repeatedly whether we really do want to go ahead with the combined diagnostic test - the foetal measurements and maternal blood samples which assess the child's risk of chromosomal abnormalities.

Which we do.

People have mixed feelings about this test; it gets talked about as though the only reason people go ahead with it is so that they can abort disabled babies (and as though that decision is always easy and always abhorrent).

But it's not as simple as that.

Down's Syndrome does scare me - not so much the thought of looking after a Down's Syndrome child in my forties, but of looking after a Down's Syndrome adult in my seventies and eighties and of what would happen to that person (and, by extension, Matilda, the next of kin) when Steve and I either die or become too frail to care for her/him ourselves.

So I'd be lying if I said we wouldn't even consider a termination - we would; we would agonise over our options. But, if we were going to have a baby with Down's Syndrome, then I wanted to have processed the shock before meeting my child for the first time and to be going into that situation armed with knowledge, support and first hand accounts. I wanted it to be a conscious choice.

However, none of that was a big concern. Because that kind of thing doesn't happen to real people in real life. The scan was perfect; everything was great.

Wednesday 17th May.

Matilda and I are out in the garden when my phone rings. It's the screening coordinator from the hospital.

"Are you out and about?" she asks. "Can we chat?"

I think that she's making such a big deal out of telling me that everything is fine.

"Your test has come back with a 1 in 74 chance of abnormalities," she says.

And I feel relief flood me. 1 in 74 is good, right? It's 1.35%. It's practically nothing.

"We consider anything over 1 in 150 high risk," she states. "I'm sorry to ring with bad news."

And that's that. The phrase "high risk" has been applied to my baby's health and percentages get bunged in the compost bin.

There's more talk - she tells me about amniocentesis (having a big needle stuck into your bump, complete with risk of miscarriage) and about a non-invasive blood test we could have done privately (for £399; I laugh) and about how my age will have been a big factor in the calculation (later, I find that the odds will have started at 1 in 150 because I'm 38).

But I'm not taking much of it in; mostly I'm watching Matilda attempt to fill her watering cans and wondering how hard it's going to be to get her back indoors before I start to cry and panicking because I can't tell Steve that he has to leave work immediately without telling him why and having him spend an hour on the bus, going through all this in his head, on his own.

In the end, Matilda is wooed upstairs with the promise of lunch. And I don't call Steve home; I text a friend who's a trainee midwife and who I know will listen to me panic rather than tsk that everything's going to be okay.

And I do cry and Matilda looks alarmed; I tell her, "You know I got a phone call in the garden? It was some sad news, and sometimes when people are sad they need to have a little bit of a cry so they can get the sad out and get their happy back."

From then on, any time anything upsetting happens, she wails, "I need my happy back!" and I know just how she feels.

Friday 19th May.

Steve and I book the non-invasive blood test. The £399 non-invasive blood test.

Of course we do.

We have spent two days talking and googling and thinking and googling and talking and, although we're not completely happy with our decision, we're more happy than we would be with the alternatives.

We can't just wait and see. We can't. As soon as we start thinking about being high risk for one abnormality, we start thinking about the other abnormalities, too - the ones which are "incompatible with life"; the ones which we can't imagine recovering from. This is not something we're prepared to leave to chance.

We don't want to go down the amniocentesis route. It's free on the NHS and it tests all the chromosomes, not just the ones most likely to have abnormalities, and it is diagnostic so it will tell us "Yes" or "No", and all those things are appealing. But it means Steve taking a couple of days off work to look after Matilda (we're hoarding his time for when the baby arrives) and - more importantly - it comes with a risk of miscarriage.

A teeny, tiny risk of miscarriage.

But a risk of miscarriage nonetheless. We've been there, we've done that; we're not taking that chance unless we absolutely have to.

Which leaves the private test. Which means Steve leaving work fifteen minutes early one day, and which will involve a 4D scan (not that we've ever wanted a 4D scan in the past but if it's "complimentary" then, sure, why not?), and which, although not diagnostic, is so accurate that it's being rolled out across the NHS in the just-a-little-bit-too-distant future.

If the blood test comes back as "high risk" for any of the conditions it covers, I'll still need to be stabbed in the bump with a needle, but that's a concern for another day.

And so we wait for the test date, and I avoid going to the prenatal pilates class I had planned to start and I don't snap up the secondhand Snuzpod I see advertised on a local Facebook selling page and I feel uncomfortable telling any more friends why my T-shirts are so tight, and the whole pregnancy feels like it's on hold. Again.

Friday 26th May.

Steve and I head to the clinic for the private test.

Having had a week to process everything, I'm feeling pretty good. The odds of a problem are tiny; I've told a few friends about the situation in a deliberately glib manner; I've calmed down so much that my overwhelming feeling about this appointment is excitement about seeing the baby.

The sonographer is brilliant; we're laughing within moments of Steve and me arriving and, when I tell her our odds, she cries, "For 38, that's really good!"

So we see our baby who wriggles around madly - something which didn't happen at the twelve week scan or at either of our scans of Matilda. It's amazing.

We have a brief 4D scan, although the sonographer does warn us that, at fourteen weeks, babies tend to look more like a toddler's been at the Play Doh then an actual baby. Sure enough, I wouldn't be surprised if she bunged a video of a cauliflower on the screen instead of showing us our kid.

But, despite it seeming to be some kind of brassica, she tells us our baby looks perfect.

She takes a couple of vials of blood from me, hands us a few print outs (from the lovely, wriggly 3D scan not the creepy 4D cauliflower one) and sends us off on our way. It should take seven to ten working days for us to receive the results; the call should come in the evening.

Thursday 1st June.

I know it's only been four working days but WHY HAVEN'T THEY PHONED YET?!

Friday 2nd June.


I waste a chunk of my evening googling "How long do NIPT test results take?" and not finding any helpful answers.

Monday 5th June.

Day ten. Six working days. I spend the evening with my phone never more than arm's reach away.

Tuesday 6th June.

Day eleven. Seven working days.

No phone call. Did my blood get lost in the post? Was it unusable in some way? Have they lost my contact details?

Wednesday 7th June.

Day twelve. Eight working days.

The screening coordinator from the hospital calls, wanting the results for my records. Official people think they should be here by now. I can't seem to concentrate on anything.

Friday 9th June.

Day fourteen. Ten working days. The maximum length of time it was supposed to take.

I've reached the resignation stage now.

Rationally, I know that either they will phone or I will chase them up and get to the bottom of whatever's causing the delay; emotionally, I'm resigned to never, ever receiving the results, to it all having been a colossal waste of money and to the baby popping out of existence because... I don't know... it seems like the most likely thing to happen right now.

On the other hand: if they are going to call, surely they won't make us wait through another weekend. I keep my phone by my side, just in case.

Monday 12th June.

Day seventeen. Eleven working days. One month after our twelve week scan.

The weekend was tough. My reserves were gone. I spent most of my time either sleeping or hiding because I didn't have the energy to properly parent; I so badly wanted an enormous glass of wine. Or a phone call. Or, depending on the outcome, both.

I sail through Monday, quietly convinced that tonight will be the night.

Because it will, won't it?

Of course it will.

One extra day because of a bank holiday or a backlog. Totally understandable. The lab will be caught up by now and the phone call will come.

At 8pm, I accept that that is not the case.

And I cry and cry and cry.

I am seventeen weeks pregnant now and I want to bond with my baby. I had one confident week between the twelve week scan ("It's alive!") and the call from the screening coordinator ("But is it healthy?!") and that is not enough.

I'm convinced that I'm going to be one of the women who has to have a second blood test taken, that I'm going to be around twenty weeks pregnant by the time I get the results, that I'm going to miss out on enjoying a full fifty percent of my pregnancy.

And I feel utterly bereft.

Tuesday 13th June.

Day eighteen. Twelve working days.

I call the clinic.

The receptionist tells me somebody who had her test the same day as me is not long off the phone and that her results are in; she promises to call right back with information.

Which she does. Call right back, that is. With a promise that somebody will ring me with the results within a few minutes.

That's not information, is it? There's no clue there as to whether the news is good or bad. And I really need to pee.

But I hold it in, clutching my phone, a toddler clambering all over my bladder, waiting the longest time ever (four or five minutes) for a call.

And then it comes.

With all the drama of a TV game show.

"We needed 4% foetal DNA in the blood sample..." The woman tells me, followed by an OVERLY LONG DRAMATIC PAUSE "...and yours had 8.3%!"


"We tested [blah-medical-terminology-blah] for [such-and-such syndrome]..." OVERLY LONG DRAMATIC PAUSE "...and it came back low risk!"


And so on through each of the abnormalities they had tested for. OVERLY LONG DRAMATIC PAUSE. Low risk.

Everything low risk. Everything apparently perfect.

I confirm to Steve. I call my mum. I text a few people who were waiting to hear the results. I go and pee.

Matilda spends a good long while walking around with a balloon shoved up her T-shirt.

And just like that: it's over.

This pregnancy and this baby are at no greater risk than any other.

We can relax. We can tell the last few friends and family members our news. I ask Steve if it's too early to bring the baby clothes down from the attic (it is, he says). We even manage to bag the secondhand Snuzpod. We start to talk about names.

Post a Comment

Please play nice.