The Importance of Genetic Carrier Screening for Intended Parents As Well As OVA Donors

Undergoing fertility treatment can be stressful enough. Worrying about the health of your unborn baby can add to the stress. At RFC, under the leadership of Peyman Saadat, M.D. we offer and encourage our patients (and their ova donor, if applicable) to undergo a process called “Carrier Screening”. This screening is a simple blood test that will screen for a wide variety of genetic disorders or syndromes.

The Human Genome Project (under the direction of the National Institutes of Health) was completed in 2003. This project determined that there are approximately 20,500 human genes. Because of this project, hundreds of diseases can now be pin-pointed to specific areas on a chromosome, thus allowing screening for these specific diseases.

Many of the most severe diseases are what is called “ autosomal recessive”, which simply means that an individual carries one copy of the disease but 2 copies are required for the disease to be evident. Therefore, someone may not know they are a carrier unless they have a child with the disease. This can only happen with autosomal recessive disorders if both parents are carriers. When both parents are carriers, there is a 1 in 4 chance of having a child with the disease.

There are also disorders known as “autosomal dominant” disorders. These disorders require only 1 genetic copy for the disease to be evident. Typically, families will know about this possibility, because it is likely that someone in their family has presented with the disease. In general, autosomal dominant disorders run in a family for generations, and there is approximately a 50% chance of a child inheriting the disease.

The fact that intended parents (or possible ova donors) could be carriers of an autosomal recessive disorder and be unaware underlines how important genetic carrier screening is. This ground breaking test is important for everyone, and can be customized to your needs, for example those of any ethnic background that has a high incidence of certain disorders.

Please contact our office at 310.929.6707 and let us help you on your way to becoming the parent you were meant to be.