Preconception genetic testing provides valuable information for future parents

Preconception genetic testing helps the doctors at our Indianapolis fertility clinic determine whether patients carry certain genetic conditions their children could inherit. The results of this testing can help patients determine whether they would benefit from in vitro fertilization (IVF) with a specific type of preimplantation genetic testing called PGT-M.

While we recommend all women and men get this testing before conceiving, it’s especially beneficial for those who have a known family history of genetic disease. We often also recommend this testing to patients who have had recurrent miscarriages or failed IVF cycles.

How we perform preconception genetic testing

Determining whether a woman or a man carries an inheritable genetic condition is an important first step on the path to parenthood. This testing allows patients to make informed choices.

Preconception genetic testing is typically done on a blood or a saliva sample from the patient. After collection, a specialist tests the sample for a number of genetic conditions.

Spinal muscular atrophy
Tay Sachs
Sickle cell disease
Beta-thalassemia
Bloom syndrome
Gaucher disease
Canavan disease
Fanconi anemia type C
Niemann Pick disease type A
Fragile X

If one or both parents tests positive as a carrier of a genetic condition, our Indianapolis fertility clinic connects them with a genetic counselor. This professional can provide comprehensive information about what this means.

The next steps if a patient carries a genetic disease

After meeting with a genetic counselor, patients who carry a genetic condition work with a doctor at our clinic. Together, they develop a treatment plan that provides the best chance of taking home a healthy baby. IVF with PGT-M is a common treatment we recommend.

IVF consists of the woman taking ovulation induction medications that cause numerous eggs to mature. During this time, we regularly monitor her at our clinic with bloodwork and ultrasounds. When enough eggs mature, a doctor performs an egg retrieval. Next, an embryologist fertilizes the eggs with the sperm from the woman’s partner or a sperm donor.

Preimplantation genetic testing for monogenic disorders (PGT-M) can occur after the embryologist fertilizes the woman’s eggs in the lab. When we know one or both of the intended parents carries a certain genetic disorder, we can often test the embryos for that specific disorder using PGT-M. This testing helps ensure that the doctor transfers a healthy embryo to the uterus.

Preconception genetic testing and effective fertility treatments allow our Indianapolis fertility clinic to support women and men in building a healthy family. Carrying a genetic condition does not need to stop someone from fulfilling their dream of parenthood.