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

1. Children with IVF have higher risk of heart defects
2. We have United Health Care PPO insurance
3. We are generally willing to pay out of pocket

Timeline

Pregnancy Appointments and Key Dates

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
2024-10-18	Correct timing for the MSAFP test (missed)
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:

• Pacific Women's Obstetrics and Gynecology
• Golden Gate Obstetrics and Gynecology

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:

1. Awareness of IVF and genetics
2. Experienced at delivering children
3. Personable and easy to ask questions of
4. 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.

Myriad Genetics Test

We skipped the carrier screens (OB had Natera pamphlets) because we had our genomes already done for the IVF process. Myriad tests the mother's blood for the foetal DNA and then concludes things based on that. The things they checked were:

• Trisomies: these affect 13, 18, 21 and the sex chromosomes X and Y
• Aneuploidy
• A bunch of other micro-deletions: e.g. 15q11.2 which causes developmental delays

For the most part, we knew all of this from our Orchid PGT-WGS, and there were no surprises here. Absent other information, you can also learn the sex chromosomes here. These results took about a week to arrive.

Second Consultation

About a month later, after we'd traveled to France, Greece, the UK, and back we went to our next appointment. At every visit to Dr. Neiman, they run a quick urine test. At this appointment, we learned that Julie might be at risk for gestational diabetes.

By this time, the gestational age was about 16 weeks.

Gestational Diabetes - Screening

This is a straightforward test. They give you a glucose drink and then test you an hour later. We did this at our usual Sutter Health Lab.

Gestational Diabetes - Confirmation

If you test positive on the former, they give you this. This is a 3 hr effort so it's important to arrive early enough to do it. We arrived at 11 AM on a Saturday and they could not accommodate us, but were fortunately first in the Wednesday after.

Dealing With Gestational Diabetes

Annoyed by the wait for the confirmation test, I thought I'd do it myself. The test kit I constructed from Amazon was:

1. A blood glucose monitor: I picked a cheap one, a Metene TD-4116 BG03
2. The smallest container of Glucose for both of us to test: two pounds of dextrose

This whole exercise ended up being a farce, however, when Julie refused to use my meter or my test and insisted on waiting to be tested by the lab. I enjoyed measuring myself and plugging the data into Apple Health so it wasn't a complete loss in the end. The dextrose remains unused.

Dealing with the actual condition is pretty much like dealing with Type II Diabetes: you manage your diet and exercise and prick yourself after every meal and in the morning to see how your blood glucose fares. This matters because gestational diabetes can lead to extra-large babies which has all sorts of problems. Since our test was done so early, it could be that Julie had Type II diabetes which is sometimes associated with low birth weight if unmanaged. Anyway, all said: you're gonna be pricking yourself every day and measuring.

Devices

The ob/gyn provider set us up with a counselor who set us up with a similar device: the Verio Flex OneTouch. Both these devices are inexpensive, but Julie has the Verio Flex device reporting to her phone.

I just tested both devices simultaneously to compare accuracy and received the following from the same finger: (mg/dL of glucose in blood)

1. First prick: 88 on Metene, 80 on Verio Flex
2. Second prick: 101 on Metene (but I dropped the test strip on the floor first accidentally), 88 on Verio Flex
3. Third prick: 89 on Metene

So these are roughly in the same range for diagnostic reasons when you aren't rubbing them on the floor. After all, if you're close enough to go over all the time, that's just as bad. The Metene comes in a nice bag that's handy to carry around and I find the spring-activated lancet launcher (that pricks your finger) easier to use.

Julie prefers to prick herself manually with the lancet, and prefers using the Verio Flex tools.

Foetal Echo Ultrasound

One of the things that Dr. Neiman recommended we do is a Foetal Echocardiogram which is an ultrasound scan that checks for any obvious heart errors. This is normal for IVF pregnancies because of the elevated risk (it isn't a big risk, just an elevated risk). We did this at the Stanford Childrens' Lab in the same building as the Sutter Health Lab. It's a fairly long process where the lab tech scans your baby's heart and then a paediatric cardiologist tells you if there's a problem detected.

Note: Try to eat around an hour before these ultrasounds. If the baby is quiescent, it'll sometimes be in a position that makes it impossible to measure its heart.

MSAFP Test

The Maternal Serum Alpha-Foetoprotein test tells you if there are certain kinds of birth defects. The protein is made by the baby's liver (and perhaps other organs) so presumably having too much or too little points to problems there. We made a mistake on our checklist and did not do this test in time. It has to be done between 16 and 20 weeks, with 21 weeks reducing its diagnostic efficacy.

This would let you know early if there's a problem and begin preparing for it (or presumably terminating). It appears that California has a data-collection regime around this and Non-Invasive Prenatal Screening (NIPS). In any case, the MSAFP test results are sent to the state and the state sends them to your ob/gyn. So what this means is that you have to allow for 10 days of delay to get the results. The results of this help search for problems on the anatomy ultrasound that follows.

Third Consultation

About a month later, we were onto our third consultation. The gestational age was 20 w which puts us well into the second trimester. By now we should have had our MSAFP results, but as noted above we did not. Nonetheless, off we went to the second trimester ultrasound.

By this time, we're close to the viability lifeline: 24 w. A baby born at this age would be highly unlikely to survive normally, but under the most advanced Neonatal intensive care unit facilities available here in the US, it is possible to keep them alive until they can take care of themselves. The CPMC facility we are using has a NICU Level 3 and the UCSF hospital nearby is a NICU Level 4.

MSAFP Test

This was a quick one at the Sutter Health Lab. They draw blood and you're off. We don't have the results yet.

We were told the results may be useful but that it's possible that they're not since we were so close to the 21w cutoff and that the ultrasound is what matters anyway.

Second Trimester Ultrasound

This one tests for anatomical regularities in most of the body: all the way from the brain down. Pay attention to the previous note about ultrasounds. In our case, this is where it hit us. Our baby was lying curled up and facing her mother's spine. This makes it hard to image her heart, and look at her face.

Julie had eaten about 30 minutes before and we were advised that babies move about a lot more right after eating. If I'm being honest, I have to confess to a moment of terror that she might not be moving but it turns out she was waggling her legs and just liked lying curled up against her mum's spine.

Fortunately, the foetal echocardiogram covered the heart.

We scheduled a follow-up for later.

Pregnancy Registration

By this time, you're usually quite well-informed as to whether your child is likely to be healthy and so it's time to register for delivery at the hospital. We registered at the CPMC Van Ness Facility. Most facilities here seem to offer hospital tours to familiarize oneself with where one will be going on the crucial day.