1 in 16 chance of downs syndrome

[Mummyo1]

I've spent hours crying. I've had the call to say my scan was normal, babies fluid on the neck came back as normal but my blood tests showed high hcg and low papp a. I'm low risk for Edwards and patau syndrome but high for downs syndrome 1 in 16. I've got a nipt tomorrow. Anyone else similar and be okay? I'm heartbroken 💔

@Brightandshining yes it never crossed my mind mine would come back high, naive but I had my son and it was all low, just assumed with a good scan so would this one. I've had my nipt and I'm just desperate for the results. Probably one of the hardest things I've had to go through and would also just pay for the nipt if I went through this again

I don’t think anyone is being dismissive they are just being realistic.

As has been said, DS is such a huge spectrum and there is absolutely no way of knowing if the infant will be severely affected with life long problems (inclusive or medical and/or learning needs) and if they will require 24/7 care, or whether they infant will be mildly affected and will be able to lead a relatively normal life. Continuing with the pregnancy is a gamble and if the mother/family doesn’t feel like they have the reserves or the resources to take the risk of having a severely affected infant then it makes sense not to continue with the pregnancy.

For some people the risk of having a severely affected infant is one they are prepared to take and for other people, it isn’t.

I have seen the arguments of there is no way of knowing what may happen to a healthy child in the future, for example they may get a severe illness or be in an accident and need long-term care and so there is no guarantee of anything, and whilst I agree with this, the only difference is that situations like that can’t be screened for whereas DS can.

Making an informed decision isn’t just about hearing the positive anecdotal stories or reading about people who are mildly affected with DS and who have had happy ‘normal’ lives within happy families, it’s also about being informed about the opposite end of the spectrum too where sadly there will be very challenging and distressing situations and experiences I imagine.

Yes, having a child with DS may be “no big deal” to a lot of people but to a lot of others it is a big deal and not a gamble they want to take in terms of what the diagnosis may mean for their child itself but also for the future of the family and the impact a severely affected infant may have.

OP’s stance may be offensive to some, who I imagine would be individuals who have positive stories about lovely DS children they know, but those cases do not make the potential negative aspects of having an infant who is severely affected with DS disappear.

OP and all the other women who would, or who have terminated for DS are making the right decision for themselves and they don’t deserve any kind of judgement.

@HeadAgainstWall0923 you said everything I wanted to and summed it up perfectly and eloquently.

@HeadAgainstWall0923 that is a lovely post and explains perfectly.

Day 1 of the wait. I really hope its not too long. Never known emotions like it

I hope everything goes well for you 🙏

I had similar with my first baby, can't remember the exact figures but it was high risk when I hadn't expected it to be. I was young and had never thought it would be an issue. The scan had come back fine it was just high hcg and slightly low papp A. We paid for the harmony and it came back very low risk and my DD was born without DS.

2 years later in my second pregnancy the exact same thing happened again, high risk for DS due to high HCG and slightly low papp A. Again no DS. Consultant said that's just how some people make babies. Clearly for whatever reason my body had a higher level of hcg.

It was a really stressful time on both occasions so I wish you all the best OP. Like you I wouldn't have continued the pregnancy if it had been confirmed and don't let anyone bully you into thinking that isn't ok on this thread.

@Louisa4987 I had my son at 18 pregnant at 17...and mine came back low. This is my second and never expected it to be high. She said the driving factor is the contrast between high hcg and low papp a, I'm wondering if it's my bmi too as I'm raised, I'm praying for a good outcome, we have almost a 94% chance all is good. I just hope I'm not thr statistic! I won't be bullied, I hate that people even try it on posts like these. As If times aren't hard enough! Thanks for your support

@Goldencup just reading your comments. My son has autism, sensory processing disorder, eating disorder, dyslexia, asthma, eczema and dermatitis. He was born an allergy baby. He has a 1:1 in school, he sees a psychologist and gets lots of help. But that's nothing like downs syndrome. And I don't think you should even compare.

Just come across this thread as I also received a phone call yesterday to say my chances were 1 in 16. Going for NIPT on Monday. Can I ask what happened in your appointment...was it bloods and chatting further about how your results were calculated?

@Good2chat they just said the only thing that's flagged it was the contrast between low papp a and high hcg. But I'm wondering if they consider weight too as I'm over weight. I hope your nipt comes back low and ill keep you in my thoughts x

My actual nipt appointment was going through my scan...which flagged nothing. My hcg and papp a numbers and then the risk of 1 in 16. Had my bloods done and went home. They did offer to sit and talk but there isn't much they can say. I find talking to others in the same position much more comforting and I've seen a lot of positive stories x

Thank you for replying. I honestly can't remember much from the phone call, it was such a lot reeled off in such a sort space of time. I am 38 so know age will have increased my chances but I still naively thought it would come back low. This will be our third.

She did say results come back quite quick...so fingers crossed you hear this week 🤞

I'm 28 so it was a shock for me, they said the the papp a and hcg were the driving factor. They are soft markers, I think I'll look up what they actually take into account with a combined screening, they said to me wait is 1-2 weeks but could be sooner so fingers crossed!

I work with people with Down syndrome and love them to bits, but I would have terminated. Their families lives are hard and they are mostly high needs.
Of course you will love them once they are here. But it doesn't negate the hard life ahead.

I've just looked and they do take weight into consideration so I'm wondering if that's also a driving factor for me

@Mummyo1 I asked about my weight/BMI in a meeting with the screening midwife and she told me it wasn't a factor. She said they weigh you because the larger you are the more blood you would have in your body and they have to take that into account in the calculations.

@Ap24 how strange, it says they do on the NHS website

@Mummyo1 the combined screened that they do does take your age, weight, the neck measurement, HCG and Papp-a levels and basically put it into a calculator and spits out a number. This is basically how the midwife explained it to us who done our blood work for the more accurate test. It’s not the most accurate screening so I didn’t have it this pregnancy as it caused a lot of anxiety last time and wasn’t right anyway!! Wish you all the best with your pregnancy ❤️

@TTCX2 I thought it did! My bmi is 37 (bad I know) and that...with my papp a and hcg I think is what's making it so high. I'm only 28 so age should be on my side. I've never known anxiety like it, this wait is the worst I think I've ever had. If I ever have a baby again I will skip it and pay for nipt. I've heard a lot of people saying this screening is dated and just calculates risks based on me rather than anything to do with the actual baby. Thank you for your reassurance x

Hey @Mummyo1 ,

How you holding up? X

Thinking of you op xxx

The wait is dreadful but I'm also terrified to get the results. I feel like its not going to be a good outcome and it's hard to be pisitove, I had the nipt Thursday so I could get the results any day now xxx

I will be crossing my fingers for you OP 🤞🤞

@Mummyo1 the wait must be so hard. I have everything crossed for you. Praying you get the happy results you want xx