Our Appointment with the Genetic Counsellor

Months ago, an artist friend of mine was making pendants out of antique knives and spoons, and I just had to order one for DW’s birthday. It arrived in the mail today, and she loved it and wore it to our appointment downtown.

It was a super beautiful day to drive with the sunroof open, and we arrived on time to our appointment with the genetic counsellor at the fetal medicine unit of the hospital. Moments after we arrived, the waiting room went from four people to completely full, and we were seen for our appointment a bit late. Our genetic counsellor was wonderful. Early on, we had established that DW has a masters degree and extensive industry experience working in genetics and DNA analysis, and that with my medical degree education, I was very well read in the basis of all of this work. This pleased her, and we were able to talk about things at the appropriate level with her. We went through my family history, as well as what we knew of our anonymous sperm donor, the only notable detail that my mother has a sister with an unidentified, non-chromosomal mental challenge. 

She then went on to outline the possible reasons for our nuchal translucency of 3.8mm (>3.5mm):

1. Normal variant- Dumplin’ is just fine, and just measures a bit big behind the neck.

2. Trisomies 21, 18, and 13.

3. Heart defect.

4. Noonan Syndrome, which has an associated cardiac issue.

She talked about our Non-Invasive Testing Options:

1. NIPT blood test (aka Panorama, Harmony, Verifi) – covered pending government funding on a case-by-case basis, and can be done anytime after 10 weeks pregnant. This screens for the Trisomies with 99, 97, and 87 percent accuracy.

2. Fetal echocardiogram done at 15-16 weeks to visualize the heart.

3. Detailed fetal anatomy scan done at 15-16 weeks and then again at 19-20 weeks- looking at soft markers and visualizing the heart again.

Then she went through the Invasive, but “Gold Standard” diagnostic tests, the CVS and Amniocentesis. I’ll be too far along to do the CVS, but the Amniocentesis would be to diagnose any conditions related to abnormalities in the chromosomal collection or DNA that can be found in a karyotyping and microarray. They also look for deletions and duplications in the DNA sequence that are known to be pathological. Apparently 1.5-2% of the population possess these deletions/duplications that are associated with known learning disabilities. Since few people have actually had their DNA sequenced and tested, they might not even know this! This was fascinating to me and DW, being teachers who deal with a lot of at-risk students, and those with diagnosed and undiagnosed learning difficulties. 2% is really quite prevalent.

After outlining our options, we explained our choice to go the non-invasive route first- NIPT, fetal echocardiogram, and anatomy ultrasound. I told her that we had already applied for funding for the NIPT but hadn’t heard back yet. Yesterday, I called the Ministry of Health to inquire on the status of my application (faxed in by my family doctor’s assistant on April 22nd), and found out today (April 28th) that they never ever received it!! I was livid, but channeled my energy into our option of re-applying for it through the genetic counsellor. So we refilled in the paperwork and she resent it. Apparently, the Ministry of Health has ONE fax machine for all of the applications for non-provincially paid lab and diagnostic tests! When she tried to send in our application, she kept getting busy signals. So I guess she’ll have to keep trying… What a waste of skilled personnel!

Anyway, hopefully we find out in a day or two about the NIPT funding, get the blood test done, and wait another 10 days for the results. Fingers crossed for a speedy turn around time, as I feel like the waiting has been really hard on both of us.