We have the power
When there is an abnormal result, specifically the cell-free DNA screen, a common statement made is: “if I had known what this test was doing, I wouldn’t have done it. I just wanted to know the gender”.
This statement shows that pre-test counseling on what the test evaluates for was not clearly discussed or it was not well understood.
The cell-free DNA screen is a blood test that lets us know if there is an increased or decreased chance a baby could have Down syndrome, other chromosomal conditions such as Edward Syndrome or Patau Syndrome (also known as Trisomy 18 and Trisomy 13), and sex chromosomal abnormalities such as Turner Syndrome or Klinefelter Syndrome. There are placental DNA fragments in a pregnant person’s blood stream and the lab is able to determine which chromosomes the DNA is coming from as well as if there is too much or too little of that DNA. Chromosomal conditions are caused by either having too much or too little DNA. Because this screen looks at the sex chromosomes, it is also able to predict the baby’s genetic sex. Our sex chromosomes determine if we will have male or female genitalia, in general. An X and Y chromosome will determine male and two X chromosomes determine female. So, if Y chromosome is found in the pregnant persons’s bloodstream, the predicted sex of the baby would be male.
Predicting the sex of the baby is not the point of the test, however. Unfortunately, it is what the test is known for and is offered to patients as the ability to know their baby’s predicted sex earlier than the anatomy scan (which is often at least 16 weeks or later in pregnancy). In reality, it is a serious evaluation for conditions, and if it comes back positive, individuals may not ready for what that positive result means.
In a busy OB/GYN clinic, it can be hard to provide informed consent prior to doing testing. This test can be confusing and to explain it in detail is not always feasible. Also, people often ask for the “gender test” and providers want to make sure a patient is receiving the information he or she wants, especially regarding their pregnancy.
This powerful need to know if a baby will be a genetic female or male is prominent in the American society through gender reveal parties. It is possible to imagine that a provider does provide thorough consent and a person only integrates the information on predicted sex and nothing else. In pregnancy, we are informed of numerous complicated factors and have tons of appointments and blood draws. It is overwhelming.
Providers are expected to have their patient’s best interest. At the end of the day, the provider ultimately is doing their job while a patient is the one living with what the doctor is treating or recommending. Therefore, it is just as important for patients to be aware of the tests they are doing as it is for a provider to go into detail of what the test can and cannot tell us.
Modern Reproduction is created to be a place for people to obtain the knowledge they need to make informed decisions regarding their health and current or future pregnancies. Yes, we have doctors for a reason - to help treat and care for us. However, they need help too, and a well informed person is one way we can limit these situations.
* This blog constitutes general information about genetic testing and medical screening. This blog does not offer or provide medical advice or diagnosis, and nothing in this blog/webinar should be construed as medical advice or diagnosis. Do not rely on the information in this blog/webinar to make medical management decisions. Please consult with a medical professional before making those decisions. Do not delay in seeking professional medical advice if you think you have a medical concern. Do not disregard professional medical advice based on any information received in this blog.
