These advanced genetic tests are performed on amniotic fluid, which analyze DNA at various levels of detail.
These tests are highly sensitive and capable of detecting all significant changes that are visible in a regular karyotype test. Additionally, they can identify subtle, unbalanced changes that cannot be detected in a regular karyotype test.
However, these tests sometimes yield findings that are not always clear in their implications, even after parental testing. Such findings can pose difficulties in making decisions about the continuation of the pregnancy if they are discovered during prenatal diagnosis.
These tests can be performed after receiving genetic counseling, and they can also be done privately (in cases where there is no public funding entitlement, but the patient is interested in the comprehensive genetic exploration of the fetus).