18 Weeks: Fetal ECG and Anatomy Scan

Our day started early today, as we needed to be downtown this morning for our fetal echocardiogram at Sick Kids Hospital. Traffic was surprisingly light, given that we were heading down during the morning rush hour, and we made it to our appointment in good time. 

  
Sick Kids is a really neat place. As its name implies, it’s a hospital for sick children, and as such looks like a friendlier and more fun place than any old hospital. There are several sections of the hospital, and we were in the atrium section, which was constructed with an underwater theme. Sea creatures decorated the walls, there were sitting pods on all upper floors, that kind of looked like submarine windows, the metal work and elevators also matched the submarine kind of look. We saw lots of kids that were sick or injured, but all seemed in good spirits and smiling.

  
(A hallway in Sick Kids, photo from http://vikpahwa.com/photos/20140126-the-hospital-for-sick-children-atrium-1993-in-toronto-is-reminiscent-of-ontario-place/)

The fetal ECG went well. The actual diagnostic ultrasound took over an hour, and the dim lighting and warmth in the room made me nod off throughout most of it. DW was there with me, sitting at the end of the medical table and kept holding and squeezing my feet, which was sweet.

Dumplin’ heart anatomy and function looked perfectly fine.

Next, we headed across the street to Mount Sinai for our anatomy scan. The waiting room in that place is huge, and full of pregnant ladies. Most looked very pregnant. The last couple of times that we’ve been there, I’ve kinda felt self-conscious about how “unpregnant” I looked compared to everyone there. I also noticed that the women there all seemed to be either of advanced maternal age, or really really young (and accompanied by a parent). There were very few women that looked my age, which was weird to me, but I guess this is a department for high risk pregnancies…. So I guess that makes sense.

The anatomy scan went well. Dumplin’ is a stubborn little fetus, refusing to change position despite several agitations by the ultrasound sonographer, me laying on my sides, me getting up and moving, or me making exaggerated physical movements. Today he had his back to the world, tucked right into mama. Our sweet stubborn boy!

  
(Dumplin’ sleeping on his side- that’s as far as he would move for us.)

He is also huge! He’s measuring 19 weeks, and we are 18 weeks. His head is big and his femurs are long. 

All of Dumplin’s parts look normal, except he has bilateral choroid plexus cysts in his brain. Now, as an isolated finding, this is benign. Sometimes, it is a soft marker for trisomy 18, but when it is, it is usually accompanied by other soft markets such as: intrauterine growth restriction (IUGR), hands in a permanently clenched position, and major heart defects. Since our NIPT stated with 96.4% reliability that Dumplin’ does not have trisomy 18, our geneticist isn’t at all concerned about the cysts. Apparently they are a normal variant in 1-2% of the population, and do not affect the function of the brain at all. Dumplin’ also is huge for his age (so no IUGR), showed us his opening and closing of his hands, and has a normal heart. As his mama, it’s hard to not be worried even though it’s nothing. 

 
(Dumplin’s choroid plexus cysts- the holes in the two oval structures above.)

The geneticist said that this cyst thing isn’t even worth pursuing, it’s so benign, but to calm my maternal worrying, they’re sending us for fetal biometry at 28 weeks, which is just another ultrasound that measures things and gives the measurements a score, then a combined overall score for all of the measurements. It basically gives a summary of the baby’s growth compared to the normal range. Y’all know I’m a data nerd, so I’m happy with doing this ultrasound, especially since I’m with midwives, we won’t likely get to see Dumplin’ again until he’s born. 32 weeks is a damn long time people!

In other news, I’m up 25lbs since pre-IVF. Yup, twenty-five pounds! And I’m only 18 weeks! This number was a shock to me, but my boobs are ginormous (seriously the skin is so tight that it feels like my boobs are going to explode), I can’t fit my thighs into my regular pants, and my bump is bumpin’. So I see where the poundage is going. 10 of those pounds were gained in the past 7 weeks (normal according to my midwife), so 15 lbs were gained between my IVF stims, retrieval, and the end of my first trimester. To be honest, I blame a lot of those first 15 lbs on the prednisone… Such a nasty drug that gave me moon face and efficient fat storage! However, also a miracle drug that calmed my immune system enough to allow Dumplin’ to thrive. So I’ll take the increased body fat if it means I get a baby.

I will take a new bump photo this weekend and post it sometime soon. 

These days, I’m brainstorming things Dumplin’ will need, so that I can prepare myself for budgeting for it. I’m stuck on a couple of items that are costly and so personal in terms of different people’s habits (like strollers). Maybe I will do another post in a couple of days and elaborate on this.

Lots of love to y’all and have a wonderful weekend! 

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.