Genetic Testing

• Carrier screening assesses the risk of passing on inherited genetic disorders to your child.
• We recommend routine pre-conception carrier screening for our patients as part of our comprehensive pre-conception counseling.
• Testing involves a blood test, typically for females, and if necessary, for their male partners.
• If a genetic disease is identified, couples can explore options such as in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PGT-M) to reduce the risk of passing the disease to their offspring.
• Couples who opt not to undergo carrier screening will be asked to sign a form declining testing.

• Common in certain ethnic groups.
• Associated with recessive mutations.
• With a likelihood of causing serious diseases in offspring.

These mutations may not show symptoms in carriers, making screening vital.

What do The results mean?

• Positive: A positive result means you are a carrier of one or more of the tested disorders. While it typically doesn't affect your health, it increases the risk of having a child with that disorder. Further testing for your partner is usually recommended.
• Negative: A negative result indicates no disease-causing variants were found. This reduces the chance of having a child with the tested disorders, but there's still a small residual risk.

Preimplantation Genetic Testing (PGT) is a test done on embryos before they are placed in the uterus during in vitro fertilization (IVF). It helps identify any genetic issues or abnormalities in the embryos, ensuring healthier pregnancies and reducing the risk of passing on genetic diseases to the baby.

When is PGT Used?

• PGT is employed when chromosome abnormalities are associated with implantation failure, pregnancy loss, or birth defects.
• It helps select the healthiest embryos for transfer, increasing the chances of a successful pregnancy.

• PGT-A (formerly known as PGS): Screens for aneuploidy, offering a general assessment.
• PGT-M for Monogenic disorders: Searches for specific disorders carried by you and your partner.
• PGT-HLA for matching: Aims to find an HLA match for an affected child you may already have.
• PGT-SR (formerly translocations): Designed for cases where you or your partner have chromosomal translocations. This test identifies embryos with balanced translocations, which are compatible with life.