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1:7 chance baby has Down Syndrome

3 replies

Amy6688 · 09/09/2020 11:06

Hello everyone,
My first post on something like this but I am hoping to hear from people who have gone through a similar experience to myself as I just feel lost.
I am 34 years old (35 when baby is due) and whilst at my 12 week scan, for my first baby, unaware of what was really happening I agreed to the combined test. During my scan nothing was flagged and the fluid behind my babies neck measured 2.1mm so didn't think this was anything to be concerned about.

A week went by and I received a call from the midwife, my results were back and I am a high risk of 1:7 of Down Syndrome. My stomach dropped and I have been a nervous wreck ever since. When I asked what my results showed, I was told 'it's a mixture of everything' and have yet to be given my breakdown of results.
I was offered an amnio but not for a couple of weeks. Realising I couldn't wait that long, my bf booked me in for a private Harmony test which was done yesterday. The nurse there done a thorough check (although couldn't see the heart chambers as I am only 13 weeks) but said that everything looked as expected and measured 2.2mm behind the neck of the baby with no soft markers showing.
She also took bloods which will be sent today for testing. We have been told it can be 7-10 working days for a result so I am trying my best to stay busy and positive.

OP posts:
Fredsgirl19 · 09/09/2020 18:17

Sorry to hear this. It is the most stressful time. I had a result of 1:3 and opted for a CVS which case back clear.

Some times she and a wonky Papp a or HCG can really scew these screening results. I know it is easier said then done but try stay calm and I'm sure you will feel better once you have the harmony results

curliegirlie · 10/09/2020 09:38

Hi @Amy6688, sorry you’re going through such a lot of worry, 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) 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.

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

1:7 chance baby has Down Syndrome
AnneShirleysNewDress · 10/09/2020 09:56

Hi @Amy6688 We also had a postnatal diagnosis just after DD was born. @curliegirlie She is absolutely gorgeous.

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