Understanding genetic risk factors to determine an individual or couple's reproductive health status is an essential part of family planning.  Genetic testing, in consultation with a physician and genetic counselor, can provide valuable information for making informed decisions, especially those impacted by difficulties in conception or pregnancy, or risk factors, such as age, ethnicity, and family history.

There are two sources of genetic aberrations that can affect reproductive health. One, genetic mutations for inheritable diseases, is passed on from parents to child via their DNA in the same way physical traits such as eye color and height are passed to offspring. The other, de novo genetic mutations, occurs spontaneously during embryonic development.

With advancements in new genetic analysis technologies and an increased understanding of human genetic variations associated with diseases, it is now possible to test for a comprehensive range of disorders for reproductive health. Genetic testing when performed at different stages of family planning can provide valuable information for clinical decision-making including diagnosis and treatment.

Categories of genetic tests for reproductive health

Carrier screening helps a couple to understand the risk of passing inherited genetic disorders on to their offspring. This information is used to make informed decisions while evaluating options for family planning.

Preimplantation genetic testing screens in vitro fertilized embryos for chromosomal abnormalities and genetic mutations before implantation to reduce time to pregnancy and increase probability for success.

Prenatal testing provides information on the health of the mother and the baby during pregnancy and the baby’s risk of developing genetic disorders for proactive healthcare management.

Postnatal genetic tests help physicians diagnose congenital anomalies, diseases, and developmental delays in children and newborns for early intervention, treatment, and care management.