New Genetic Test Shows May Detect Birth Defects Faster

A new revolution in technology could drastically change the way genetic tests are done. Just this summer, the New York Times reported that a new genetic test went through a small trial after ten years of development to detect genetic birth defects in embryos, fetuses, and tissue obtained after miscarriage.

This type of test is groundbreaking because of how quickly it is able to provide accurate results. Since the samples do not need to be sent to a lab, this new test is able to show results in just a couple of hours rather than a couple of days or weeks.

How genetic tests determine birth defects

Genetic tests during pregnancy are completely optional, but they are incredibly important for those who do opt for results. These tests check for dozens of birth defects, diseases, and disorders that could be either life-threatening or drastically reduce the baby’s quality of life post-birth. This genetic test makes determining birth defects simple by looking at the chromosomes within the sample. The New York Times article mentions that a healthy sample will have two copies of a DNA segment with one from each chromosome. However, if there are three copies, it means there is an extra chromosome. If there is only one copy, there is a chromosome missing.

According to the Office of Women’s Health, some of the genetic birth defects that can be detected in the standard tests are:

• Down syndrome
• Cystic Fibrosis
• Spina bifida

And this new test has the ability to discover these as well, potentially with greater accuracy. (Although, it is said that another trial is encouraged before further claims are made.)

Why we’re excited about a genetic test

Since it is becoming more common for folks to start a family a little bit later in life, birth defects are unfortunately not all that uncommon. Women over the age of 30 years old are at a greater risk for giving birth to a baby with a birth defect, and it affects one in every 33 babies born every year, according to the Centers for Disease Control and Prevention (CDC). But many families and pregnant people choose not to undergo genetic testing because it is not always covered by insurance.

This new way of testing is incredibly more affordable than the standard amniocentesis or chorionic villus sampling, known as C.V.S. This new genetic test will cost $200 per use, compared to the $1,000 to $2,000 many families were stuck paying out of pocket. Since this is considerably more affordable, it can help many women opt for genetic testing without worrying about the cost. If it becomes more widely used, not only could it help determine genetic birth defects before the baby is born, but it could also help women who lost pregnancies understand what possibly caused their miscarriages.

Is failing to diagnose a birth defect a form of medical malpractice?

While having genetic birth defect tests done is not required, it is so important for doctors to explain potential risks to their patients, especially if there may be a higher risk of a birth defect.

In some cases, birth defects may be caused by medications a mother is taking. If a doctor fails to take an accurate history or prescribes a drug that is known to cause birth defects, this could be an act of malpractice.

Finally, medical professionals have a duty to accurately report their findings in their patients’ medical records – but those findings may be incorrect through no fault of their own. Let’s say that a woman opted to have the genetic testing done and her doctor came back and gave her the news that everything looked great and normal. However, after her baby was born, it was clear that the baby had a neural tube defect like spina bifida, and the reason the doctor did not know was because of an error made during the test, or some kind of mistake made by the lab. In this case, the lab technician may be considered negligent, or the manufacturer of the test (if it is defective) may share some level of liability.

How is this considered negligence?

Some genetic conditions, like spina bifida, can be avoided if the mother gets enough folic acid in her diet. If she does not and the child develops spina bifida, then she must make a decision about whether or not her child will undergo a surgical procedure while it is in the womb. A mother who is not told her child has a condition, is prescribed a dangerous drug, or who was given inaccurate test results may be denied the chance to make a choice about how to help her baby live a better life. When parents are given inaccurate results or are not informed that they have the option to test, it does not give them the chance to make their own decision. It also does not give them any time to properly process the birth defect or the chance to learn all they can about the birth defect in order to give their child the best quality of life.

Doctors are responsible for properly caring for their patients. During pregnancy, doctors have an additional duty to properly monitor the growth of the baby and provide options to the mother when there are options to choose from, like genetic testing. If options were not discussed or the doctor failed to diagnose a birth defect by reading the results improperly, then the parents may have a good claim to sue for medical malpractice.

Find the right Memphis medical malpractice lawyer to help

Medical malpractice lawsuits can be challenging. That is why it is so important to find an experienced attorney who can help you fight for the compensation you deserve. If a doctor missed your baby’s birth defect, prescribed a dangerous medication, or made a mistake with testing, then you have the right to sue for your medical expenses, lost wages, and pain and suffering. After successfully securing our clients millions of dollars in birth injury and medical malpractice claims, you can rely on us to help.

If you believe that you are a victim of medical malpractice after your child’s birth defect was not disclosed to you, our Memphis attorneys want to help. Make an appointment for a free consultation with a compassionate member of our team and tell us your story. Call Bailey & Greer, PLLC or complete our contact form to schedule your consultation in Memphis or Jackson. We serve individuals and families throughout West Tennessee.