Editing Pregnancy (section)

== 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<ref>You are expected to birth a child at 40 weeks (37-42) of gestational age, split into 3 trimesters: 0-13, 13-26, 26-40. These are usually referred to by the week (one-indexed). So a 4 day old embryo will be in week 1, a 12 w 4 d embryo will be in week 13.</ref>.

=== 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
* [[wikipedia:Nuchal scan|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<ref>{{cite report
 | title = 15q11.2 Microdeletions
 | publisher = Unique : Rare Chromosome Disorder Support Group
 | date = 2018
 | location = Oxted, Surrey, UK
 | url = https://www.rarechromo.org/
 | access-date = 2024-11-13
}}
</ref>

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.