Combined Test Results - So Worried

[OMC2209]

Hiya,

I’m a 37 and 51 week year old, experiencing my first pregnancy. I have a bmi of 42 and an underactive thyroid. I had my 12 week scan at the start of this week which was absolute wonderful to see our baby for the first time.

Nuchal measurements came in at 1.8mm and then I had bloods taken for a combined screening test.

The midwife rang me today to say I was classed as high risk with a 1/21 chance of downs. My PAP-A came back as a low reading too of 0.24. The whole conversation went by in a blur as I was felt really overwhelmed.

I have been very upset since getting in from work and my partner has now booked an NIPT scan for this Sat. I’m so Unbelievably worried / sad after today and the thought of an invasive diagnostic following an NIPT is causing nothing but anxiety.

Anyone gone through a similar experience? Any guidance or advice?

Thank you, Livvy xx

Hi, check out the ARC website and helpline, there's really no news until your NIPT results, and the wait is always horrible, sending you a virtual hug x you'll read lots of mixed results on forums about hcg, pappa and hcg but just wait for your own results x I have been through this twice and it's really difficult to focus so be kind to yourself OP.
When you get the results the ARC website may have further help x

Hi @OMC2209, sorry you’re going through such a lot of worry. As you’ll know, the combined test isn’t the most accurate (and your age will be playing against you) and the NIPT should give you a much better indication. But, whatever the NIPT results, things will be ok, and Down’s syndrome is a slightly different journey from what you may have expected, but ultimately your child will be wonderful, regardless of the number of chromosomes.

My 5 year old, who started school (in big girl pants 🥳) last week, had a postnatal diagnosis of DS at a few hours old. It felt like our world had collapsed, as the consultant delivered the diagnosis and reeled out all the related medical complications. But we needn’t have worried - our daughter is wonderful. She was lucky enough not to have heart, bowel or feeding problems (beyond initial difficulties related to her low muscle tone, which meant she struggled to latch on - but ended up breastfeeding for 2.5 years!). She crawled at 14 months, walked at nearly 3, and is a real chatterbox - both verbally and through her great knowledge of Makaton signs. She can sing along to nursery rhymes and loves numbers and counting. She’s my absolute superstar. And I know that a lot of her friends through our local DS charity had heart surgery when very little - obviously horrific for them and their parents at the time - but now a year or two on, are doing brilliantly. Lockdown has seen many of our little crawlers turn into walkers and climbers!

Do have a look at the Down’s syndrome association website - www.downs-syndrome.org.uk/for-new-parents/being-pregnant/ - as they have excellent resources for new and expectant parents. www.positiveaboutdownsyndrome.co.uk also has lots of stories and experiences from parents (of all ages), grandparents, siblings etc. And there are a couple of really good Facebook blogs - Don’t Be Sorry (about a little boy called Oscar) and I am River, who, for that added bit of exoticism, lives in Tanzania! Both give really good, positive, but honest accounts of bringing up a child with Down’s syndrome. Finally, for a few more stories and experiences there’s m.facebook.com/DownRightAmazing - a lovely photography project my daughter is involved with.

Take care. I’ll be thinking of you and happy to answer any questions you have.

@curliegirlie, oh what an absolutely beautiful little girl you have. Thank you so much for the inspiring post, it’s been wonderful to read. I will have a look at the links you sent now I’m in from work, thank you for sharing them.

It’ll be this Sunday for our NIPT screening, then it’s trying to keep as occupied and hopeful as possible as we wait for the results.

Xx

@Nearlythere39 thank you for sharing the ARC details. I am just wanting to keep as informed as possible throughout all of this and the waiting following the NIPT.

Xx