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[quote=Anonymous]We did counsyl when having our daughter who just turned 13.  Unfortunately, my gyn stopped being an OB and hasn’t suggested testing (we’d been TTC for a while). I found my new doctor at about 12 weeks. His practice had just started offering Consyl - I think our portion was about $100 per person. Because it was so new, I was the first patient he’d had that chose to do the testing. I believe it’s super quick now, but back then it took 3-5 weeks to get results.

I got tested right away (13 weeks) and found out at my next appointment (17 weeks) that they’d mislabeled my bloodwork. I got retested and got a call at about 21 weeks that I was a carrier for 3 things (Gaucher disease and two mutations in amino acids.) Each could have grave consequences (such as high risk of still birth; painful / slow death for child etc). For example, if I remember correctly, one very rarely leads to live birth but, if it does, it causes severe problems with the bones and typically leads to suffocation by the 3rd birthday.

So we rushed my husband in to get tested for the 3 things I carried and my doctor contacted the company to see if they could rush us, but even so we didn’t know we were in the clear until somewhere around week 23 which is pushing the limits on when we would consider abortion (but we didn’t want me to go through a full term still birth delivery or to have a baby suffocate).

We considered an amnio but the risks of miscarriage from that or the risk my husband had the any of the same mutations were about the same (I think about 1:200).

So we waited and, fortunately, he doesn’t carry any of the same mutations as I do.

Interestingly, my only known ancestry at the time was English / Scottish / Irish / welsh and German. But the results suggested I had Eastern European and / or Mediterranean ancestry and Swedish ancestry (one of the mutations tends to be more common among Swedes). Family research I did a few years ago of just my mom’s side confirms a much more varied background than i knew of. [/quote]

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