When talking about genetic testing options in regard to reproductive health, there are several different tests available to parental testing as well as testing of fetus in early pregnancy that can be considered.
Carrier Screening: In coordination with recommendations from the American College of Obstetricians and Gynecologists as well as the American Association of Medical Geneticists we offer all patients and couples the option to consider genetic carrier screening to determine the possibility of certain conditions to develop in offspring. We receive one copy of each of our genes from our father (or sperm source) and one from our mother (or egg source). For a person to be a carrier, it takes 1 defective gene (and 1 normal gene). It takes 2 defective genes for the condition to present in an individual and for that individual to exhibit signs and symptoms. The idea behind the testing is that if both partners are carriers for a particular condition, the child has the potential to have the condition. Two such conditions inherited in this manner that warrant specific mention are cystic fibrosis and spinal muscular atrophy. Other conditions can also be tested for should a couple elect more comprehensive testing. Certain ethnic populations carry a higher probability of specific conditions as well, and family history may exhibit reason to more strongly consider testing.
PGT: Preimplantation Genetic Testing is performed on embryos at the blastocyst stage of growth and development following an IVF cycle. This testing allows for a biopsy of the trophectoderm (outer ring of embryo) and analyzed for genetic composition. Testing options include aneuploidy screening, analyzing the number and makeup of chromosomes as well diagnostic testing for certain genetic conditions potentially inherited from an affected parent.
First trimester screening involves a combination of ultrasound and bloodwork to identify fetuses at increased risk for several chromosomal abnormalities and other birth defects. Testing is typically performed under the care of one’s obstetrician between 11 and 14 weeks of pregnancy. ACOG recommends that all pregnant women be offered this testing; however, it is not required, and each pregnant woman and her partner should carefully consider the advantages and disadvantages of testing. PDF table summarizing various testing options.