Pregnancy
Julie and I are expecting for the first time. In keeping with my philosophy of Observation Dharma here is how we are proceeding with things.
This is an IVF pregnancy because Julie and I carry independent mutations in the GJB-2 gene that will cause profound non-syndromic hearing loss in a large percentage of our children.
Raw Material
We have 6 embryos in total of which:
- 2 are female without any copies of the mutated gene
- 2 are female with one copy
- 2 are male with two copies of the mutated gene
Considerations
- Children with IVF have higher risk of heart defects[1]
- We have United Health Care PPO insurance
- We are generally willing to pay out of pocket
Timeline
| Date | Event |
|---|---|
| 2024-09-17 | Initial Consultation |
| 2024-09-17 | Prenatal Panel Screening |
| 2024-09-17 | Myriad genetics test |
| 2024-09-17 | Nuchal Translucency Ultrasound |
| 2024-10-14 | Second Consultation |
| 2024-10-15 | Gestational Diabetes Test - Screening |
| 2024-10-23 | Gestational Diabetes Test - Confirmation |
| 2024-11-06 | Foetal Echo Ultrasound |
| 2024-11-11 | Third Consultation |
| 2024-11-11 | MSAFP Test |
| 2024-11-11 | Second Trimester Ultrasound |
| 2024-11-11 | Pregnancy Delivery Registration |
| 2024-12-03 | Second Trimester Ultrasound - Follow Up Face/Heart |
| 2025-03-28 | Due Date |
Picking the Obstetrician
This is the very first thing to do in this process. In our case, we were recommended a few from Spring Fertility, our IVF clinic. We liked our doctor, Dr. Monica Pasternak, there and trusted her opinion. The two top places we considered were:
Our primary objective was to be near our intended delivery centre and to be near where tests were available, conditional on the service being good.
We had some trouble signing up with GG Ob/Gyn that is likely not their fault (the onboarding calls happened to line up with times that were inconvenient for Julie) and found that our first visit with Dr. Alexandra Neiman was exactly what we were hoping for.
Here's what we were looking for:
- Awareness of IVF and genetics
- Experienced at delivering children
- Personable and easy to ask questions of
- Prioritizes delivering her patients' children herself
Some things I was pleasantly surprised by was that Dr. Neiman was very acquainted with pre-implantation genetic testing (PGT), and even whole-genome sequencing (WGS) of the embryo. Perhaps this is normal for obstetricians but I expected familiarity with IVF and carrier screening and maybe PGT but not WGS. That's relatively newer technology.
In any case, it was easy to get setup with her office and we were able to book the meetings we needed so we went with her. One of the advantages of the location was that the CPMC centre we wanted to deliver at was half a block away and the Sutter Health Labs were a block away. In addition, the Stanford Childrens' Hospital branch that does some radiology is located in the same building as Sutter Health Labs. Altogether, this has worked out well.
Initial Screening
Since this was an IVF pregnancy, we had precise dating of the gestational age. To match with traditional dating, the age is advanced (taking into account embryo growth in-vitro etc.). At the time of our initial screening, the foetus had a gestational age of 12 weeks. A lot of things are scheduled around the gestational age of the child so many procedures that follow will involve matching the age.
Blood Panel
Everything starts with an initial blood panel to check a bunch of things. This happened for us at Sutter Health labs. This covers:
- Haemoglobin A1c
- MMR immunity
- HIV presence
- Herpes immunity
- Hepatitis C immunity
- Thyroid Stimulating Hormone with reflex to free Thyroxine: TSH W/RFX to T4F
- Blood Group
And then there's a composite panel with:
- WBC Count
- RBC Count
- Haemoglobin
- Haematocrit
- Corpuscular: Mean Volume (MCV), Mean Haemoglobin (MCH), Mean Haemoglobin Concentration (MCHC)
- Red Cell Distribution Width
- Platelet Count
- Absolute Neutrophil
- Absolute Lymphocyte
- Absolute Monocytes
- Absolute Eosinophil
- Absolute Basophil
- Syphilis Presence through Rapid Plasma Reagin
- Nucleated RBC Auto / 100 WBC
They also do a standard urine test and a test for Chlamydia.
First Trimester Anatomy Scan w/ Nuchal Translucency
This is an early ultrasound scan that tells you:
- gestational age is as expected
- foetal anatomy is normal
- nuchal translucency is small
The Nuchal Translucency was new to me. It's a test that tells you if your foetus is at risk for Down's syndrome. While our whole genome was sequenced and we knew this was already unlikely, it is possible that the blastocyst has different cells.
Footnotes
- ↑ Sargisian, Nona; Petzold, Max; Furenäs, Eva; Gissler, Mika; Spangmose, Anne Lærke; Lauesgaard, Sara Malchau; Opdahl, Signe; Pinborg, Anja; Henningsen, Anna-Karina A; Westvik-Johari, Kjersti (26 September 2024). "Congenital heart defects in children born after assisted reproductive technology: a CoNARTaS study". European Heart Journal. doi:10.1093/eurheartj/ehae572.
