Genetic Testing & Carrier Screening

Preimplantation Genetic Testing (PGT)

Many failed implantations, miscarriages, and inherited disorders are linked to abnormalities at the genetic or chromosomal level. PGT gives us the ability to detect these issues early, before embryo transfer, allowing you and your physician to make more informed decisions about your treatment.

Benefits of PGT include:

  • Gender selection for family balancing
  • Higher implantation rates
  • Lower risk of miscarriage
  • Reduced likelihood of passing on genetic disorders
  • Improved chance of a healthy live birth

There are three forms of Preimplantation Genetic Testing, each serving a specific purpose:

PGT-A: Aneuploidy Screening

Tests embryos for chromosomal abnormalities (extra or missing chromosomes), which are a leading cause of miscarriage and implantation failure.

PGT-A

PGT-M: Monogenic Disease Testing

Used when one or both partners are carriers of a known genetic disorder. PGT-M identifies embryos that are free of the specific mutation.

PGT-M

PGT-SR: Structural Rearrangement Testing

Recommended for individuals who carry a balanced chromosomal translocation or inversion. PGT-SR identifies embryos with normal or balanced chromosomes.

PGT-SR

Each type of PGT serves a unique purpose and is recommended based on your individual medical history and family background.

How Does the Process Work?

Preimplantation Genetic Testing is seamlessly integrated into the IVF process. Here’s a step-by-step breakdown of how it works:

  1. IVF Cycle
    Your treatment begins with a standard in vitro fertilization (IVF) cycle. You’ll take fertility medications to stimulate your ovaries to produce multiple eggs. When the eggs are mature, they are retrieved during a short, outpatient procedure performed under light anesthesia.

    Once retrieved, the eggs are fertilized with sperm in the laboratory to create embryos.
  2. Embryo Development
    After fertilization, embryos are carefully monitored in our state-of-the-art embryology lab. Over the next five to six days, the embryos develop to the blastocyst stage, where they contain over 100 cells and are suitable for biopsy.

    Our lab uses advanced incubators and time-lapse imaging technology to ensure embryos remain in a stable, optimal environment throughout this process.
  3. Embryo Biopsy
    When the embryos reach the blastocyst stage (Day 5 or 6), a highly trained embryologist performs a precise laser-assisted biopsy. This involves gently removing 5–7 cells from the embryo’s outer layer, called the trophectoderm (which later forms the placenta). The inner cell mass, which becomes the baby, is not touched or harmed.

    The biopsied embryos are then cryopreserved (frozen) while we await the genetic testing results.
  4. Genetic Testing
    The cell samples are sent to a specialized genetics laboratory for analysis. Using Next Generation Sequencing (NGS) or other advanced molecular techniques, the lab examines each embryo’s DNA for chromosomal abnormalities or specific genetic mutations, depending on the type of PGT ordered (PGT-A, PGT-M, or PGT-SR).

    Testing typically takes 1 to 2 weeks, after which results are sent to your fertility doctor.
  5. Embryo Selection
    Once results are reviewed, our team will discuss which embryos are chromosomally normal (euploid) or free of the targeted genetic condition, and therefore best suited for transfer.

    You, your fertility doctor, and your embryologist will work together to determine the best embryo to transfer during a future frozen embryo transfer (FET) cycle. This decision is based on a combination of factors, including:
    • Chromosomal and genetic test results (from PGT-A, PGT-M, or PGT-SR)
    • Embryo morphology (appearance and structural quality under the microscope)
    • Morphokinetic data (timing and patterns of development captured through time-lapse imaging)

This collaborative, personalized approach ensures that the embryo with the highest potential for implantation is selected, maximizing your chance of a successful pregnancy.

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