u/Sleepy_vet444

My partner and I are waiting to hear if we are positive for a specific gene variant that causes Noonan Syndrome. Reason for testing is our baby was found to have it through prenatal testing. We terminated the pregnancy due to the uncertainty of what her life would be like. It has been 4 weeks and the test turnaround time is 4-6 weeks. We have no telltale signs of this syndrome but I know a significant number of cases are inherited so I am worried sick about the results. I’ve heard that people with normal results get them back sooner. Is this true? TIA!

Hi there,
I terminated a pregnancy due to a fetal anomaly 3.5 months ago. We did genetic testing on my baby (amniocentesis), myself and partner and some of the results are still pending. My genetic counsellor always just cold calls me with no heads up or warning beforehand, even when she is giving bad news (like when they discovered my baby had a genetic mutation). I am usually at work when she calls and either miss the call (my job doesn’t allow me to have my phone on me at all times) or take it and have to leave my workplace to go to my car to speak privately and then return to work and hope I can mask my emotions.
Is this a common way to give results? I would like to ask if she can schedule the calls or use the portal to give me results through a message I can check later , so that I am in a safe space when I get news.

Hi there,
I terminated a pregnancy due to a fetal anomaly 3.5 months ago. We did genetic testing on my baby (amniocentesis), myself and partner and some of the results are still pending. My genetic counsellor always just cold calls me with no heads up or warning beforehand, even when she is giving bad news (like when they discovered my baby had a genetic mutation). I am usually at work when she calls and either miss the call (my job doesn’t allow me to have my phone on me at all times) or take it and have to leave my workplace to go to my car to speak privately and then return to work and hope I can mask my emotions.
Is this a common way to give results? I would like to ask if she can schedule the calls or use the portal to give me results through a message I can check later , so that I am in a safe space when I get news.