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What Is Preimplantation Genetic Diagnosis (PGD)?

What Is PGT?

Preimplantation Genetic Testing (PGT) is a laboratory technique used during IVF to analyze embryos for specific genetic and chromosomal conditions before they are transferred to the uterus. By identifying healthy embryos, PGT can increase the chances of a successful pregnancy and reduce the risk of miscarriage or genetic disease.

Types of PGT and Their Purposes:

  1. PGT-A: Aneuploidy Screening
    • Checks for the correct number of chromosomes in each embryo.
    • Identifies abnormalities such as trisomy 21 (Down syndrome), trisomy 18, monosomy X, and others.
    • Helps reduce miscarriage risk and improve implantation rates.
  2. PGT-M: Monogenic/Single-Gene Disorders
    • Tests for specific inherited genetic conditions when one or both parents are known carriers.
    • Examples: cystic fibrosis, sickle cell anemia, Tay–Sachs disease, Huntington’s disease.
    • Ensures only embryos free of the targeted condition are selected for transfer.
  3. PGT-SR: Structural Chromosomal Rearrangements
    • Used when a parent carries a balanced translocation or inversion.
    • Detects embryos with unbalanced chromosomal material that could lead to miscarriage or severe genetic disease.

How the PGT Process Works

  • IVF Cycle – Eggs are collected and fertilized in the lab.
  • Embryo Growth – Embryos develop to the blastocyst stage (day 5–6).
  • Embryo Biopsy – A few cells from the trophectoderm (outer layer) are carefully removed.
  • Genetic Analysis – Cells are sent to a specialized genetics lab for testing.
  • Embryo Selection – Results guide the transfer of the healthiest, most suitable embryos.

Benefits of PGT

  • Reduces the risk of passing on known genetic diseases.
  • Increases chances of a healthy pregnancy, especially for couples with a history of miscarriage or failed IVF cycles.
  • Allows for informed embryo selection based on genetic health.
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Limitations of PGT

While PGT is a powerful tool, it is important to understand its boundaries:

  • Not 100% accurate – Rare errors in testing or interpretation can occur.
  • Embryo mosaicism – Sometimes, an embryo contains both normal and abnormal cells, which can complicate interpretation.
  • Limited scope – PGT only tests for the conditions specified; it cannot rule out all genetic diseases.
  • Potential for no transferable embryos – In some cases, all embryos tested may show abnormalities.
  • Cost – PGT adds expense to an IVF cycle and may not be covered by insurance.

CRE’s Approach

We use the latest PGT technology in collaboration with certified genetic laboratories, and our embryologists follow strict protocols to ensure the highest levels of accuracy in results. Our physicians and affiliated genetic counselors will explain your options, interpret results, and help guide your decisions based on your personal goals and medical history.

Is PGT Right for You?

PGT may be recommended if:

  • You have a known genetic condition in your family.
  • You’ve had recurrent miscarriages or failed IVF transfers.
  • You are of advanced maternal age.
  • You or your partner carry chromosomal rearrangements.

Request Your Consultation

If you are considering IVF with PGT for genetic screening, contact our Dallas office at 972-566-6686 to schedule a consultation.

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