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Preimplantation Genetic Diagnosis

Preimplantation Genetic Testing (PGT) offers a cutting-edge approach to IVF, allowing for the genetic analysis of embryos before implantation. This involves taking a biopsy from embryos at the blastocyst stage and sending it for genetic evaluation.

Types of PGT

PGT is categorized into three distinct types, each addressing different genetic concerns:

  • PGT-A (for Aneuploidies): Aimed at identifying chromosomal anomalies, PGT-A enhances the likelihood of a successful pregnancy and is also utilized for sex selection.
  • PGT-M (for Monogenic/Single Gene Defects): Targets specific genetic disorders, reducing the risk of passing these onto the child.
  • PGT-SR (for Chromosomal Structural Rearrangements): Identifies embryos with chromosomal rearrangements, increasing the chances of a successful pregnancy.

The Process of PGT

PGT-A: Enhancing IVF Success

  • Procedure: Integrated into the IVF cycle, requiring embryos to be frozen until test results return.
  • Biopsy: Removal of cells from the embryo for genetic testing.
  • Analysis: Cells analyzed in a genetics lab, while embryos are preserved.
  • Selection and Transfer: Based on results, a healthy embryo is selected for transfer.

PGT-M: Preventing Genetic Diseases

  • Purpose: Significantly lowers the risk of transmitting specific genetic conditions.
  • Customization: Each test is personalized, requiring DNA samples from parents and sometimes family members.
  • Process: Embryos undergo biopsy for detailed genetic testing, followed by the selection of unaffected embryos for transfer.

PGT-SR: Addressing Chromosomal Issues

  • Application: For individuals with chromosomal rearrangements affecting pregnancy outcomes.
  • Simplification: Often follows a straightforward procedure akin to PGT-A, with additional workup in some cases.

Considering PGT

PGT offers a proactive option for those undergoing IVF to increase the odds of a successful pregnancy and ensure the health of the future child, particularly for couples with known genetic risks. The choice among PGT-A, PGT-M, or PGT-SR depends on the specific genetic concerns and aims to provide a tailored approach to family building.

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