Learn more about the importance of carrier screening when trying to have a baby

The team at our Tennessee fertility clinic works hard to help patients understand the importance of carrier screening. This screening can detect if a woman or a man carries any inheritable genetic conditions that could affect their future children. If a patient is a carrier, we work with them to create a plan that helps reduce the chance of the condition passing to their children.

Understanding the importance of carrier screening

Typically, every person inherits one copy of each gene in their DNA from each parent. If a person has one abnormal and one normal copy of a gene for a condition, they are a carrier and can pass that condition on to their children.

Without carrier testing, many people never know they can pass on a certain condition, as they’re unlikely to have symptoms. Because of this, our Tennessee fertility clinic, in addition to the American College of Medical Genetics and the American College of Obstetricians and Gynecologists, recommends carrier screening for all patients.

Carrier screening is important because it helps us discover whether a patient is a carrier of serious inheritable genetic conditions, including cystic fibrosis, spinal muscular atrophy, Tay Sachs and sickle cell disease. We can also test for many other conditions.

• Beta-thalassemia
• Bloom syndrome
• Gaucher disease
• Canavan disease
• Mucolipidosis type IV
• Niemann Pick disease type A
• Fragile X syndrome

Our laboratory partner can perform carrier screening on a saliva or blood sample from the patient.

What happens if a patient is a carrier?

If carrier screening reveals that both parents carry the same condition, the doctor will likely recommend in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M). When hopeful parents use IVF with PGT-M, the woman’s eggs are sent to the lab after the egg retrieval. An embryologist then fertilizes the eggs with sperm from the woman’s partner.

A few days after fertilization, the resulting embryos undergo a very safe biopsy. This requires the embryologist to remove multiple cells from the part of the embryo that will become the placenta. The embryologist then flash freezes the embryos using a process called vitrification. Next, a geneticist tests the cells from the embryos for the specific condition that the parents carry. Finally, the doctor transfers an embryo without the genetic condition to the woman’s uterus.

Our Tennessee fertility clinic urges all patients to receive this simple screening test before trying to conceive. It provides information that can help hopeful parents bring home a healthy baby. Contact us for more information about the importance of carrier screening for inheritable genetic conditions.

Nashville Fertility