At Tallahassee Perinatal Consultants, we talk to all patients about optional screening for chromosomal problems, such as Down syndrome, trisomy 18 and trisomy 13, as well as gene-related issues.
Some birth defects stem from one or more genes that may have changed or mutated, causing them not to work properly. To check for gene abnormalities, a doctor may recommend a prenatal test called cell-free fetal DNA, used to identify defects in the chromosome structure.
Genetic screenings are typically done during the first or second trimester. The physician will draw blood from the mother to determine the outcome. If the test comes out positive, we recommend discussing extensive testing options to carefully determine any genetic concerns.