Prader-Willi Syndrome (PWS) cannot be diagnosed during pregnancy through standard prenatal tests like CVS or amniocentesis, as these tests are only performed when there is a relevant family history or specific medical indication, and PWS does not fall under standard prenatal testing protocols; even with 98-99% accurate diagnostic tests, there remains a small margin of uncertainty that must be accepted.
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Diagnosis of PWS During Pregnancy 🤰 | Rare Disease Awareness #shorts📝追加:
So, there are two tests as far as I have read about.
There is It is called CVS and another is amniocentesis sentence something. It There they check the amniotic fluid. I'm not sure the what the name actually is.
I'm not a medical professional.
See, but these tests are done when it is absolutely needed. Like if you have a relevant history. Like in my case, it was my first child. So, I didn't have any genetic condition in my family.
Nobody had it. In my husband's family also, nobody had any genetic condition.
So, there was no point for me to go through all these invasive tests.
But if I conceive the next time and there is a history of me having a child with PWS, that time they will have to consider doing all these tests for me.
Okay. So, what I'm trying to tell is there is uh Even if it There was I didn't know that my baby was PWS and I don't blame anyone because it didn't like fall under the protocol. The standard protocol didn't, you know, include those tests to identify whatever was the standard protocol. It was followed.
And until and unless there is a need, I don't think any of the doctors will tell you to do all these tests. So, yeah, that's what And also just I just want to tell you if there is something you discuss with your doctor. If you just trust your doctor.
And also certain times it so happens all the tests that you are given all the diagnostic like tests or whatever that you are going through in during pregnancy, you are doing in the pregnancy, almost nine They are all 98, 99% accurate. That 1% is still remaining.
So, you have to leave certain things to fate. I'm not telling that something bad will happen or something like this will happen to anybody. Or I regret not doing those tests. No, it's not like that.
I Neither do I regret, nor do I blame anybody.
It is as it is supposed to be and yeah, I'm okay with it.
And there was no way that they could, you know, identify PWS during my pregnancy. Um so, yeah. That's it for today. Thank you. I will talk about what happened after delivery and how it got diagnosed in the later videos. Thank you so much.
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