Understanding genetic risk factors is an essential part of determining a couple’s reproductive health when they are planning to start or grow their family.  Genetic testing, in consultation with their physician and genetic counselor, can provide valuable information for making informed decisions, especially when there are difficulties in conception or pregnancy, or risk factors, such as age, ethnicity, and family history.

There are two sources of genetic aberrations that could affect reproductive health. Genetic mutations for inheritable diseases, as with certain physical traits, such as eye color and height, are passed on from parents to child via their DNA. The other source, 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 on inherited genetic disorders and make informed decisions while exploring their options for family planning.

Preimplantation genetic testing screens in vitro fertilized embryos for chromosomal abnormalities before implantation to ensure a successful pregnancy.

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 for early intervention, treatment, and care management.