GENETIC SCREENING

IVF

GENETIC SCREENING

Birth defects occur in 2-3% of the general population and the severity can be categorized as minor or major malformations. Certain risk groups such as couples with infertility may be at a greater risk for having a baby with such defects (regardless of infertility treatment) due to the cause of infertility including advanced reproductive age (decreased egg reserve), sperm deformities or being a carrier of certain genetic diseases. Genetic screening is utilized to identify individuals who are at an increased risk, so that advanced testing can be offered prior to or during the pregnancy for final diagnosis.

Although genetic screening has been available for many years, its application has significantly increased with the advent of new genetic tests, increased awareness and our understanding of the pathophysiology of various diseases. Currently, there is no single genetic test that identifies all the risk factors for a couple, but a number of different screening tests are offered based on specific risk factors. Genetic testing along with risk assessment should ideally be done prior to the initiation of the pregnancy, but 50% of pregnancies in the United States are unplanned and therefore genetic screening is commonly offered during the pregnancy.