3 types of genetic analysis techniques

There are 3 types of genetic analysis techniques as follows:

  1. Preimplantation Embryo Chromosome Screening (PGT-A) to screen for abnormalities of all 23 pairs of embryonic chromosomes.
  2. Preimplantation Single Gene Level Embryo Genetic Test (PGT-M) to Screen Embryo Genetics In families with genetic diseases.
  3. Preimplantation genetic screening for chromosomal structural abnormalities (PGT-SR) to screen for chromosomal swapping.

PGT-A

What is PGT-A?

It is a technique for genetic diagnosis of embryos before they are transferred back into the uterine cavity. PGT-A was originally called preimplantation genetic screening (PGS) and is used to detect excess or missing chromosomes in embryos. Embryos with excess or missing chromosomes It is called an anuploid that usually cannot be implanted and leads to miscarriage, or if the embryo is successfully implanted, it will lead to the birth of a child with a genetic disorder. Embryos that have been screened for chromosomes and found to have normal chromosomes called euploids are able to implant well and have a high chance of successful pregnancy.

Who is PGT-A suitable for?

PGT-A is suitable for couples undergoing IVF/ICSI and is recommended for

  • Women over 35 years old
  • Women with a history of at least 1 miscarriage
  • Women who are diagnosed with chromosomal abnormalities
  • Women with a history of IVF but not success.
  • Spouses with infertility

PGT-M

What is PGT-M?

  • PGT-M was originally called embryonic genetic diagnosis before migration back into the uterine cavity. PGD is an ideal technique for couples who have a genetic disorder caused by a single (monogenic) gene mutation and are at risk of passing on the genetic disease to their child.
  • PGT-M is useful for couples who have been diagnosed with a genetic disorder caused by a single gene mutation.
  • PGT-M reduces the risk of having a child with a genetic disease.
  • PGT-M is useful for couples who have undergone IVF/ICSI.

Who is PGT-M suitable for?

  • PGT-M is suitable for spouses who have been diagnosed with a genetic disease or are genetically carriers.
  • Spouses whose male or female partner has a history of genetic disorders caused by a single gene disorder.
  • Married couples with children have genetic disorders.
  • Genetic diseases caused by recessive gene disorders such as Alpha-Thalassemia, Beta-Thalassemia.
  • Genetic disorders caused by dominant gene disorders such as bone dysmorphism, Huntington’s disease.
  • Genetic diseases caused by sex chromosomes (X-linked) such as dysarcitis du Shane, color blindness

PGT-SR

What is PGT-SR?

PGT-SR is a test for structural rearrangement. Detection of chromosomal swaps in PGT-SR embryos can help screen embryos that are normal for relocation to the uterine cavity.

Who is PGT-SR useful for?

PGT-SR is useful for married couples or children with chromosomal relocation or carriers of chromosomal relocation. as follows

  • Reciprocal translocation (fragments of 2 chromosomes break off and alternate positions)
  • Robertsonian translocation (2 chromosomes joined together)
  • Balanced translocation
  • Unbalanced translocation

Who is PGT- SR suitable for?

  • Spouses with Chromosomal Switching Conditions
  • Spouses with a history of 2 or more miscarriages due to chromosomal abnormalities or unknown causes.

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Thank you for the content from :

Dr. Veena Krudsawat