Season 1

Episode 15

 

 

Genetic Testing

Our first midwife appointment was actually rather terrible. We went it with the mentality that we were interviewing the clinic and the midwife. That’s what people told us to do. It was good advice. The first one didn’t pass the test. But despite that, she did give one really good piece of advice, with regards to genetic testing. I’m not even sure why we were talking about it in this first appointment.  But regardless, she told us that genetic testing is great for what it is, but "it still isn’t going to tell you if you’re child’s gonna to be an asshole.” Good point indeed. 

Genetic testing can give parents a false sense of security that their child is going to be fine if the testing comes back negative. But the testing is only done as screens for 3 genetic conditions, routinely. Because I was older (i.e., 38 when pregnant), I let the stats get into my head. Pregnancies in the later years is associated with a greater risk of genetic defects. Two of the known conditions that are often screened for during pregnancy are Trisomy 13 and Trisomy 18, both of which often lead to babies who do not survive the first year and have severe mental retardation and major deformities with many organs. But Trisomy 21 leads to Down’s Syndrome, and as we know, those babies not only live, but can thrive! 

The choice to do genetic testing can be a difficult one because it begs the question (and the conversation) about what to do with the results? Will you terminate? Will you not? Will the results change the course of pregnancy for you? And if you decide to do the first screen and a positive result comes back, then there is more testing, which leads to further stress and worry and in the end can be a false positive and then the pregnant women undergoes unnecessary stress, which will be affecting the fetus. Is knowledge power? Or is ignorance bliss? 

We decided to do the genetic screening because I was of Advanced Maternal Age. I’m not sure that you really know what you will do with positive results even if you have all the right conversations beforehand. We thought we knew but if we had gotten a positive result, undoubtedly we would have had more conversations. I guess fortunately for us, we didn’t have to go down that path. We were cleared. In fact, I was downgraded to the genetic status equivalent to a 31 year old! So much for "advanced maternal age". For some strange reason I felt proud of that.  Although, I probably owe some thanks to Mike for that. It’s now known that men’s increased age is also associated with increased risk of genetic disorders, although Advanced Paternal Age has been largely overlooked in the scientific studies. So although I got pregnant when I was 38 years old, the sperm was from my 33 year old partner. Thanks Mike! I also thank my amazing Midwives and Naturopathic Doctor for reminding me that I was anything but old, in their experience of birthing women. That reassurance was confidence building and much appreciated. My glowing test scores helped too. :) 

 
 

Supplementary Information

 

Advanced Maternal Age: 35 yrs.

Advanced Paternal Age: ~40 yrs. There is no clear ages for APA. No consistent cut-off. 

A review about the risks involved with conception later in life for men and a guide for genetic counselling. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854059/

Some women are told that they should have a labor induction or C-section at 39 weeks, solely because of their age. What's the evidence? Check out this article on how many women give birth over the age of 35, the risks of pregnancy over the age of 35, and the history, guidelines, and research on induction and planned Cesarean for advanced maternal age. http://evidencebasedbirth.com/advanced-maternal-age/

According to the most recent Statistics Canada data, in 2012, women over 40 gave birth to 13,395 children, while teenagers produced 12,915.  http://www.macleans.ca/society/health/forget-teen-pregnancies-older-moms-new-normal/

Origins of some severe disease-causing mutations have been traced back to the testicles of healthy men. https://www.sciencedaily.com/releases/2016/02/160208182909.htm

Having a male baby? That makes a difference too if you're over 40: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416462/