NIPT high risk but declined to do further amino test!

Kutty2504

New Member
Dear lovely mom,

NT scan at 12 weeks shown no risk.. however 20th week anamoly scan shown a tiny echogenic intracardiac focus in left ventricle of heart which is a soft marker for down syndrome. Our little angel is doing fine in terms of all measurements except this . Following this doctor advised to do a NIPT harmony test. We did this and results came out as high risk (99%). Doctor advised to do amniocentesis to confirm Down syndrome as it’s a diagnostic test whereas NIPT is just a screening test. As am in 21st week doing this invasive test will harm my baby as there is a mild chance of miscarriage. Also doing this test as mentioned by doctor is to terminate pregnancy or prepare ourselves mentally strong for a Down syndrome baby . We decided to keep our baby, she is gifted to us and no matter what happens she is ours. Any one who undergone this similar situation but any miracles happened later that is baby born without Down syndrome or the soft marker cleared on its own during subsequent scanning? My baby has nasal bone present and she is fine with all measurements . She was sucking her cute little thumb in last scan. Any words of hope and guidance greatly appreciated,!
 


Susu1985

Member
My first down syndrome test shows its high risk, I straight away to proceed with amniocentesis, cos I wan a 100% sure result. Amniocentesis has a v low percent of miscarriage, but my doc assure me that so far of the many years in his years with kkh, he didn't see any got miscarriage due to this. Jus need to bed rest for 2 days after amnio test, I'm sure u wil be fine.
If u wan to keep this baby regardless, then no point doing all these test. But if u wan to have a piece of mind of the whole pregannacy journey, I will suggest you go and do the test. Look for Dr John tee in kkh. Good luck!
 

axioms

Member
Heres what the page on Harmony says

"Positive predictive value (PPV) is the probability that a positive test result is a true positive. PPV is based on both the performance of the test and the prevalence of the condition in a particular population. In blinded published studies, Harmony has been shown to have a PPV of 93% in the high-probability populationi and 81% in the general populationii.1-2 In contrast, first trimester serum screening has a PPV of 6% in the high-probability population or in a 35-year-old population."

in other words, in tests of subjects who were detected as positive, those who were really positive was between 81% to 93% , or there is a 7% chance to 19% chance the test is a false positive.

It's quite interesting that despite a high sensitivity and specificity of 0.99+ , the false positive rate is still decently high. Statistics is counter intuitive.

Theres a range because it depends on whether you are sampling from a population that is high risk (35 years) and more likely to have the condition (in which case the test is less likely to be wrong when it comes out positive) or from a general population where the risk is less.

Not surely if this is helpful. Good Luck.
 
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Mum9192

New Member
Dear lovely mom,

NT scan at 12 weeks shown no risk.. however 20th week anamoly scan shown a tiny echogenic intracardiac focus in left ventricle of heart which is a soft marker for down syndrome. Our little angel is doing fine in terms of all measurements except this . Following this doctor advised to do a NIPT harmony test. We did this and results came out as high risk (99%). Doctor advised to do amniocentesis to confirm Down syndrome as it’s a diagnostic test whereas NIPT is just a screening test. As am in 21st week doing this invasive test will harm my baby as there is a mild chance of miscarriage. Also doing this test as mentioned by doctor is to terminate pregnancy or prepare ourselves mentally strong for a Down syndrome baby . We decided to keep our baby, she is gifted to us and no matter what happens she is ours. Any one who undergone this similar situation but any miracles happened later that is baby born without Down syndrome or the soft marker cleared on its own during subsequent scanning? My baby has nasal bone present and she is fine with all measurements . She was sucking her cute little thumb in last scan. Any words of hope and guidance greatly appreciated,!
Hi thank you so much for sharing. You have a big heart ❤ Just want to know did your baby come out good and healthy? As I’m high risk as well.
 

Ddreaaa

New Member
Hi thank you so much for sharing. You have a big heart ❤ Just want to know did your baby come out good and healthy? As I’m high risk as well.
Hello - I am in the same situation too - with harmony test showing high risk. Wanted to check how did it go for you all? Has been worrying about it.
 

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