NIPT Results, Baby's Sex

We opted to take NIPT to screen risks for chromosomal abnormalities and this is done by taking blood sample from the surrogate. The laboratory then isolates the fetal DNA that circulates in the pregnant woman's blood to analyse. We did it during the first obstetrician appointment at gestational age of 12 weeks.

We were in Queenstown to celebrate our wedding anniversary and friend's birthday when we got the call. We woke up on our wedding anniversary to Wendy's phone call to say we have the NIPT test results. Our surrogate told us everything came back as low risk and our baby had XY chromosome. We were so relieved results came back with low risk. Finding out sex of the baby is exciting regardless of your guesses, or expectations. Absolutely the best way to wake up on the wedding anniversary.

So what does the report actually say? It told us fetal fraction was 10% and summary result is low risk. It broke down risk for aneuploidy for chromosome 21, 18, 13, all other autosomes, and sex chromosome with low risk for each. The interpretation summarises (and this is section you see sex of the baby) that consistent with two copies of chromosomes, and two sex chromosomes (male, XY) and no other whole chromosome aneuploidy or partial chromosome deletion or duplication >7Mb was detected.

We shared the news with family and decided to do an impromptu sex reveal in Queenstown with a balloon and a game of tic tac toe with Korean words for son/daughter.

We do realise the binary world we live in and the result is based on sex chromosome. Education on sex, gender, and expression is improving but lack of awareness and misconception still very common. We do want to share a short description and great diagram from Genderbread below

• Sex is usually assigned at birth most often by external anatomy (male, female, intersex)
• Gender is sense of self and self-identity. You might have heard of cisgender, and transgender.
• Expression is how you present yourself and is outward-facing self. Most of us are used to the binary (feminine/masculine) and creates many biases for people's sex, gender, and attraction
• Attraction is who you are attracted to, are you only attracted to people of opposite sex and opposite gender? are you attracted to people regardless of sex and gender?

Back to NIPT test, we know the risk of chance of chromosomal abnormalities goes up with the age of eggs and we believe NIPT is better alternative to amniocentesis. Amniocentesis is relatively safe procedure but there are risks compared to NIPT which is a simple blood test from the pregnant woman. As of Nov 2022 the NIPT tests in New Zealand needs to be privately funded as no public funding or subsidies are available.

Resources

1. NIPT (Non-Invasive Prenatal Testing) Non-invasive prenatal screening (NIPS) is a way of determining the risk of the fetus having certain chromosomal abnormalities. Small fragments of circulating DNA in a pregnant woman’s blood are analysed. These fragments are free floating and not within cells, unlike most DNA, which is found inside a cell’s nucleus. They are therefore known as cell-free DNA (cfDNA). During pregnancy, a mixture of cfDNA from the woman’s cells and cells from the placenta are found in the maternal blood. Evaluation of the cfDNA from the placenta allows screening for certain genetic abnormalities. NIPS can be performed from the 10th week of pregnancy. NIPS can be used to screen for chromosomal disorders such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The accuracy of the test changes depending on the disorder in question.
2. Illumiscreen provided by Asia Pacific Healthcare Group (APHG) and blood sample taken at LabTest
3. PerceptNIPT provided by Victorian Clinical Genetics Services (VCGS) in Australia and blood sample taken at your obstetrician office.
4. Sequenca Genetics provided by Sequenom Laboratories, San Diego and offers 3 types of tests and blood sample taken at their Epsom clinic.