Freaking out need advice

[Ozwoz]

Hi i am 37 and pregnant with my second child. Had my bloods done at 20 weeks and anatomy scan also done scan was good but then today got call from midwife saying she got blood results and they have come bk high risk of down syndrome 1 in 140 chance. I now waiting hear from hospital what happens next for testing etc. I feel now distant to my pregnancy and now just super scared. Can any mums please help with advice as i so worried and a mess. Will this mean my child will have it etc. Attached is scan pic of our little girl. I am in nz

I am not a medical person but statistically 1 in 140 is still very low. 139 babies born will still not have any of the symptoms.

Usually further tests are available such as having a second screening test called non-invasive prenatal testing (NIPT) – this is a blood test, which can give you a more accurate screening result and help you to decide whether to have a diagnostic test or not. Additionally, you can have a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS) straight away – this will tell you for certain whether or not your baby has Down's syndrome, Edwards' syndrome or Patau's syndrome, but in rare cases can cause a miscarriage.

20 weeks ? That’s very late. We’re your 12 week bloods clear? I had a 1/115 chance of edwards / patau but a clear NIPT. 21 weeks now. All seems well. Is NIPT an option for you if you don’t want invasive testing?

My bloods were good at 12 weeks and scans have been all clear but midwife gave me test for down syndrome at 18 weeks but blood place did wrong test so when went see her had to do another at 20 weeks.

Would love to know wbere in nz i could order a nipt test to try rest mind as not even sleeping. Midwife has referd me to hospital to talk to them but just want peace of mind as dont want wait weeks

Cut off for higher risk (I'm not keen on the term "high risk") in the UK is 1:150. You're barely under that and is probably in line with your underlying age-based risk, maybe even slightly better.

I personally would have been happy with that and wouldn't have bothered with further testing, particularly as you've had a good anatomy scan and 12 weeks was good (did they take a nuchal measurement at that point?)

But you're worried and that's the important thing so definitely talk to the hospital about whether non-invasive NIPT is an option.

I'd be really reluctant to opt for an invasive test such as amnio with that result.

I hate the term ‘high risk’, what it actually is is an increased statistical chance and still actually unlikely. A 1 in 140 chance of Downs is equivalent to a 0.7% chance so there’s a 99.3% chance your baby is absolutely fine.

Thanks hoping to hear from midwife and hospital soon to get tests done for next stage to find out. Trying to enjoy this pregnancy

There is a 99% likelihood the baby will be ok. Next steps would be an NIPT blood test which is more accurate than the combined test. If it is high chance then they would offer a diagnostic test like CVS or amnio

Do i need my midwife to refer for a nipt test??? As love piece of mind

Hi OP, how stressful for you, I remember those days well!

I was older than you at 41, 1st baby, and my Down risk was 1/76. I too freaked, but luckily I've an aunt who's an experienced obgyn. For what it's worth, she told me:

"1/76 is low risk given your age. More important is a comprehensive anatomy scan."
" A nipt at this point isn't worth it, it won't provide any information that can't be gleaned already"
"No, don't worry about booking in for an amnio. (I wanted one at the time). The risk of complications is higher than the chance of finding anything really useful at this point".

Obviously this is only one anecdote, and I did end up having further anatomy scans to ease our minds. All turned out fine.

All the best, hang in there xx

I'm in Oz btw :)

Oh OP I know how this feels as I came back for 1/5 chance as downs at my 13 week scan, which was an IVF pregnancy and tried for baby for 4 years. I ended up having an amniocentesis and after the worst wait of my life, learnt my baby was clear.
I'm currently looking at my perfect 2 day old princess wondering how I ever got so lucky 💝
I know they say 1/140 is low but that's actually still a high percentage of babies that will be fine. There are other soft markers they can test for on the scans which can help- my baby had none of these which I kept reminding myself during the wait. But I know stressful this is; so sending you lots of love and hope you find out soon x

The NIPT will identify 99% babies with Down Syndrome and is the usual next step - the scan will only pick up markers in 50% cases of Down Syndrome but 50% will have none. An NIPT is therefore much more informative

Thank u all these msgs seem to be putting me at ease i just hope we have another rescan sn

Hi, similar situation here, though I'm in the UK.
I had my 12 week scan - all fine - low/no markers for DS, but at my 20 week scan, one of the babies (I'm having twins, after fertility treatment) femur wasn't growing as much as it should.
They suggested a NIPT, which on the 5th Jan came back 'high risk,' for downs.
But, I'm 24 weeks pregnant so far too risky for a Amniothentisis at this stage... We'll be doing one at 32 weeks as the risk then is premature labour and not miscarriage.
I want to believe that my babies are ok, but my consultant basically said that the NIPT is never wrong and that my second baby has downs.. there are no other markers to show this so I'm in such a horrid limbo.
Thinking of you xx

Thinking of you. We have hospital meeting tomorrow to see what happening next.

Had meeting today and they gave me the nipt test today so have had the bloods done for nipt test now to wait for results and next step from there

Keeping you in my prayers and wishing you all the best

@Ozwoz thinking of you; hope they don't keep you waiting too long for the results x

Hi I just had my autonomy scan at 19 weeks 6 days they have asked me to come back in 2 weeks they have basically said the cavum needs rescanning and that the fluid pockets might of not matured just yet I'm so scared and don't understand what is going on they tried to reassure me not to worry and they think I'm fine but I just don't trust it I could see by there faces something wasn't right but everything else was perfectly fine he brought in aswell another person who works in fetal medicine and I don't no why? Can someone try help me shed some light 😫 😢