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  #21  
Old 06.09.2019, 11:31
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Re: Non Invasive Prenatal Test

We took the Panorama. We didn't get a breakdown of the results, only that our baby boy appeared healthy and had no chromosomal abnormalities. I didn't ask for specifics because I was happy with the summary. Glad I took it and and will take it again (if there is a next time) because I am now over 40.
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  #22  
Old 27.11.2019, 18:03
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Re: Non Invasive Prenatal Test

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It seems these tests are already available and are offered by serious companies & doctors.

Check Panorama by Natera for example, read the microdeletions section (especially 22q11.2 deletion syndrome): https://www.natera.com/panorama-test/what-it-screens
Thanks for the clarification! I misunderstood your comment as that you got some number for 'this is the chance your kid will develop autism' which is not possible. On the other hand Natera offers a more or less certain diagnosis of chromosomal deletion syndromes, which lead to all kinds of physical and mental problems in most children, some of these indeed with unpredictable severity.

For me the 22q11.2 deletion seems of comparable severity to Down's as people with both syndromes in principle can have a normal life expectancy and intellectual disability is not necessarily severe. You are right though that the more of these different syndromes can be diagnosed, the more difficult it becomes to make a decision what to do with the resulting information.
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  #23  
Old 08.03.2020, 14:34
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Re: Non Invasive Prenatal Test

Dears,

may I ask, how early is it possible to do it, and how does it go along with the gynecologist visit shcedule?

As far as I know, NIPT should be available as of week 10.. But theoretically, first there should be an ultrasound and blood tests, that would confirm the risks. And if the first gyn visit is at week 8, will they make another appointment just 2 weeks later? Or will they already do some pre-testing at week 8?
Could someone please share the experience? Many thanks for that!



I am 35+ and planning pregnancy, and I am really worried about planning all these things..
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  #24  
Old 06.07.2020, 17:48
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Re: Non Invasive Prenatal Test

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Dears,

may I ask, how early is it possible to do it, and how does it go along with the gynecologist visit shcedule?

As far as I know, NIPT should be available as of week 10.. But theoretically, first there should be an ultrasound and blood tests, that would confirm the risks. And if the first gyn visit is at week 8, will they make another appointment just 2 weeks later? Or will they already do some pre-testing at week 8?
Could someone please share the experience? Many thanks for that!



I am 35+ and planning pregnancy, and I am really worried about planning all these things..
Hi @mary_dobr,

Not sure if you're still looking for this information. I'm about 17 weeks pregnant now and just went through this so I'll share my experience and hope it can help.

I have an autoinmune disease (non-life threatening but requires medication) and turned 38 about a month ago. When I found out I was pregnant I called the gyn office and they wanted to see me pretty much straight away since they didn't know me and I had a previous condition (I was previously doing my yearly check-ups still in my home country whenever I went back). That was on week 8 and everything seemed OK and normal.

On week 13 I had the main ultrasound where they measure the nucal translucency of the fetus and the big blood tests where they measure probabilities of Down's and the other trisomies. Ultrasound looked good at first sight and we were given an appointment the following week to check the bloodwork and decide whether NIPT was deemed "necessary" and whether we wanted to do it even if it wasn't necessary.

So on week 14 we found out bloodwork was perfectly normal and gave an "average" risk but our ages (my husband is 47) elevated the risk to intermediate/high, so the insurance would cover the NIPT which was around 500chf. We were asked whether we wanted to include finding out about the baby's sex which is an extra 100chf to be paid directly by us and we said yes, then the doctor took a blood sample and sent it in to the lab (it's a Swiss test). Not even a week later we got a call from the Dr saying all results were good (no trisomy or sexual chromosome aneuploidy) and that we are going to have a baby girl.

I have basic health insurance coverage with Helsana with the highest franchise (2'500 chf) and so far we haven't had to pay a cent.
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