Prenatal genetic testing is a special type of genetic testing that looks for genetic conditions that can be identified before birth. Prenatal genetic testing may be offered if a congenital anomaly is found on a prenatal ultrasound or if there is a known genetic condition in the family that could be passed down to the pregnancy. However, there is no test that can screen for all possible health concerns that could happen.

For some families, there may be a family history of a genetic condition that causes an increased risk for a pregnancy to inherit the genetic condition. Genetic conditions and congenital anomalies can also happen for the first time in a pregnancy, so even couples without a family history can have a pregnancy with a genetic condition or congenital anomaly.

There are 2 types of prenatal genetic tests: screening tests and diagnostic tests.

Screening tests are generally available for all pregnancies, regardless of the risk of having a genetic condition. A screening test looks at the chance that the pregnancy will have a certain health concern or genetic condition. Not all screening tests are covered by the Alberta Health Care Insurance Plan. Screening tests include:

• first-trimester screening
• prenatal cell-free DNA screening (also known as non-invasive prenatal screening or testing, NIPS or NIPT)
• quad screening

Diagnostic tests are generally available only to pregnancies at increased risk for a genetic condition, like if you have a family history of a genetic condition. These tests are done on a sample obtained directly from the pregnancy through amniocentesis or chorionic villus sampling (CVS). The sample is tested for a specific genetic condition or conditions. Most genetic tests can be done on a sample from an amniocentesis or CVS, for example:

• karyotype testing
• chromosomal microarray testing
• familial variant testing
• gene panel testing
• exome testing

To learn more about exams and tests during pregnancy, see:

• first-trimester examinations and tests
• second-trimester exams and tests
• Early Prenatal Risk Assessment Program​
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