Genetic Testing: Expanded Carrier Screening

Genetic testing can be helpful to patients building a family

Genetic carrier screening is a test that can help individuals and couples determine if they are carriers of genetic disorders that could be passed on to their children. At Conceive NJ, we proudly partner with Invitae, a well-respected Genomics and biotechnology firm to offer an expanded carrier screen that tests for over 550 genetic conditions, including cystic fibrosis, Tay-Sachs disease, fragile X syndrome, and spinal muscular atrophy.

Why consider expanded carrier screening genetic testing?

There are several reasons why patients and couples may want to consider expanded carrier screening before pregnancy.

#1: Identify potential risks to child

First, it can help identify potential risks to their unborn child. If both partners are carriers of the same genetic disorder, there is a 25% chance that their child will be affected. Knowing this information early on can give couples time to make informed decisions about their pregnancy, such as whether to undergo prenatal testing or to consider other reproductive options such as pre-implantation genetic testing (PGT) on their embryos to avoid the birth of an affected child.

#2: Plan for further genetic counseling or PGT

Second, expanded carrier screening can help plan for the future. If a couple is found to be carriers of a genetic disorder, they may want to consider genetic counseling to learn more about the disorder and how it could affect their family. They may also want to consider preimplantation genetic testing (PGT), which is a procedure that can be used to select embryos that are not affected by the disorder.

#3: Prepare for pregnancy

Third, expanded carrier screening can help couples feel more prepared for pregnancy. Knowing their carrier status can give couples peace of mind and help them feel more confident about their decision to have children.

Invitae expanded carrier screening process

The Invitae expanded carrier screen is a simple used to collect DNA samples from both partners. Once the samples are received by Invitae, they are analyzed using next-generation sequencing technology. Results are typically available within 2-4 weeks.

Visit our clinic for testing

Expanded carrier screening is a valuable tool that can help couples make informed decisions about their pregnancy. Request an appointment to schedule fertility testing.

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