pomelo / 5326 posts
@agold: just thought I'd share my experience with genetic counselling.
After we screened positive on the IPS screening, we were immediately set up with a genetic counsellor. Then she helped us decide if we wanted to do an amnio or the NIPT. She also went over everything about Edward's Syndrome which we had received a 1/17 risk factor for. After our NIPT was positive for Turner's she walked us through the next steps (amnio or doing nothing) and helped set us up with families who had children with TS and made all our hospital appointments and ultrasounds with us. We would have been lost without her. Now that I'm in a new pregnancy, she answers any questions or concerns and is a good person just to talk to when I'm worried. She has set up my ultrasounds and NIPT. I feel like I've had awesome care.
pomegranate / 3764 posts
I think a lot of it depends on your history, you know?
With DD, it was before the NIPT became available in Australia, so I did the NT/combined bloods. She came back high risk and I spent the rest of that pregnancy terrified (because I refused an amnio due to m/c risk) - but she was fine.
Then we lost our second baby, and genetic testing showed T21 - so any pregnancies that made it after that, we automatically qualified for NIPT. We lost the next two afterwards again (too early for a 'reason' but highly likely due to dodgy embryos/chromosome issues too).
I'm 13 weeks and awaiting NIPT results this time around. We skipped NT completely (did a 12 week ultrasound anyway though) because the NIPT results are supposedly higher accuracy anyway.
kiwi / 566 posts
Question for those who have done NIPT... when precisely did you take the test? I was told you can do it at 10 weeks, but since gestation dates aren't always 100% accurate, is it a good idea to wait a bit longer past the 10-week mark? If it's too early, can the results be tainted?
pomelo / 5607 posts
@Goldengirl: I believe if it's too early, the results will just be inconclusive and it has to be redone. We did ours as early as possible (history of issues so I needed peace of mind NOW), but I also knew my dates for absolute certain.
@Goldengirl: What @Torchwood: said. =) I was told that being a bit heavier, it was better to wait a little bit to make sure that there was enough foetal DNA in the sample, so I did mine at 12 weeks. Friends have needed it re-done.
@Goldengirl: I did mine at exactly 10 weeks. I was worried about receiving inconclusive results but it was fine.
@Torchwood: @jaguar: @delight: Thanks for the info! I am 10 weeks 1 day now so I guess it's safe to go but I feel nervous to do it too early. Might wait a few more days.
pear / 1767 posts
@Goldengirl: I was told to call the genetic counselor's office and they would tell me when they wanted to see me. When I called, I was told the earliest they would want to see me for the Maternit21 test was 10 weeks and 4 days but I wasn't able to get in until the next day.
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