Genetic Testing Related Articles & Blog Posts

Many genetic diseases occur more frequently in people of certain ethnic backgrounds. That is why it is important to understand how your ethnic background affects your risk to have a child with a genetic disease.

Thankfully, most babies are born healthy, but every pregnancy is at risk for a birth defect. That is why is may be helpful to speak with a genetic counselor, a medical professional trained in assessing the risk for birth defects and genetic disorders, before or during your pregnancy.

There are a number of reasons why your pediatrician may recommend that your child meet with a medical geneticist, a doctor who specializes in the diagnosis and management of genetic diseases and syndromes. Some of these reasons include:

Every year it seems like more and more genetic tests are offered during pregnancy. Due to a recent recommendation made by the American College of Medical Genetics (ACMG), the latest carrier test to be offered by OB/GYNs and genetic specialists is for spinal muscular atrophy (SMA).

Making a family tree can be much more than just an interesting hobby.  You can create a “healthful” legacy for your children by adding information about the diseases that have occurred in your family – turning your family tree into a family health tree.

Back in 1995, a man died tragically when he was only 42 years old. The official diagnosis was liver failure from alcoholic cirrhosis. No autopsy was done. The body was cremated. No clues remained. End of story. Or was it?

Hello Doc, Is there any way of determining the father of a child before it is born?
Jamaica

Thank you so much for answering my question about trisomy 13. I finally understand. We were tested for our chromosomes for a translocation, and both parents were found to be normal. But what you said has me sort of…

My baby boy died the day after he was born (March 22, 1997). He had trisomy 13 translocation. With that came a lot of physical defects, some being ventricular and atrial septal defects and a double outlet right ventricle….