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High risk for Down’s syndrome

1 reply

Lostchristie · 21/09/2022 07:18

I had my 12 week scan and everything was perfect my bloods came back and fetal medicine called to say don’t panic everything’s ok we’ve got your results your all clear for p & E syndrome but you didn’t want your results for Down’s syndrome did you ?
i found that strange as I had wanted to be tested for everything so she said it was strange and find out for me . She also said my Papp A levels were low 0.32 so have to take aspirin but reassured me everything was ok .
so I contacted my midwife to let her know I didn’t have my Down’s syndrome results . A couple of mornings later I got a call from my midwife telling me my results were high risk at 1/29 chance of the baby having Down’s syndrome and I needed to think about what I was gonna do . I couldn’t contact the fetal unit as it’s closed on a Wednesday so I spent the whole day /night in pieces . I called the fetal unit first thing in the morning and they got me in as I was adamant I wanted a cvs as I just wanted to know . Once I got there the consultant sat me down and basically said the only reason I was high risk was because my Papp a was slightly low and my age 38 bumped it up but he said all my scan makers were perfect and re scanned my baby again showing the brain , spine , leg and arm growth heart , bowel everything he was so positive that my baby was absolutely fine and he talked me into having the NIPT test . 2 weeks of agonising waiting praying every would come back normal then I get a phone call again saying it’s come back high risk and need to think about what I want to do , even asked if I wanted to talk through termination procedures. I was devastated in shock and just couldn’t believe it , I asked her what my percentage was but she told me 99/100 . I spent the whole night thinking my head was gonna explode it hurt so much I couldn’t stop crying . The next day I went on loads of forums and researching about the NIPT test and found loads of conflicting information, and lots of people saying they had a high result and the baby was fine . They says it’s 99% accurate but then it says if you get a positive test it’s 1-5 chance it’s wrong ?! If I could go back I wouldn’t have had the test done . I called the fetal medics back and asked them to send me all my notes from the NIPT test and it had no explanation at all just had high risk offer them a alternative invasive treatment. Looked like it was just a copied and pasted sentence . Nothing personalised at all . I then went onto their laboratory testing site to see how they actually do this test and there’s not really much explanation only the take parts of the mothers dna that has small particals from the placenta analysis on this then add it to the previous high risk scores ?!
im so totally confused as to what to do as I’ve been in hell for 3 weeks now and if I have the amnio done tomorrow I’ve got to wait another possible 5/6 days as it’s the weekend then they close on the Wednesday plus il have a 2 week waiting / worrying that I will miscarry my baby . I have had no support from my midwife or the fetal medicine team . They drop bombshells then give you no explanation or advice it’s absolutely disgusting.

OP posts:
DifficultBloodyWoman · 21/09/2022 07:37

In my (ever so humble) opinion, NIPT is dangerous. Too many people (especially in healthcare) are incapable of understanding risk analysis and even less capable of explaining it to a lay person.

You were originally adamant that you wanted a CVS or amniocentesis. Go back to them and tell them again. They should have agreed with what you wanted originally.

Good luck. I am sorry you are going through this.

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