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Preimplantation Genetic Testing for Monogenic or Single Gene Disorder gene (PGT- M)

Preimplantation genetic testing for a Monogenic or Single Gene Disorder(PGT‐M) is formerly known as Preimplantation genetic diagnosis (PGD).  PGT-M is a diagnostic tool for detecting single-gene disorders in patients with a high risk of passing genetic abnormality to their children. This test helps to reduce the risk of having genetic diseases in children.

Why should PGT- M be done?

This test helps couples in conceiving a healthy pregnancy. The procedure is performed before a female conceives. PGT- M:
•    Examines the DNA of each embryo
•    Recognizes the healthy embryo
•    Assists the physician in deciding which embryo is suitable for transfer

Who should consider PGT-M?

PGT-M is recommended in: 
•    Fertile couples with a family history of a hereditary condition
•    Couples who had a history of severe monogenic or single-gene disorder disorders (some common examples: Cystic Fibrosis, Spinal Muscular Dystrophies or SMA, Huntington Disease)

What are the necessities for performing PGT-M?

A genetic disorder results in an altered gene function by an altered DNA sequence (or, mutation).
•    For a PGT-M, a set-up test is important. Each couple has its unique probe which is used to implement the test on embryos
•    Blood samples are taken from the couple or their family members for building the probe.

How and when is PGT-M performed?

This procedure includes testing embryos produced via IVF, selecting and transferring the ones with the correct amount of chromosomal material. 
•    A biopsy of the embryo is taken after it is grown in culture for about five days and reaches the blastocyst developmental stage made up of hundreds of cells.
•    The biopsy involves the removal of 5 to 7 cells of the external layer of the embryo, called trophectoderm, without touching the inner cell mass that gives rise to the fetus.
•    Analysis of the embryo’s genetic material is carried out. 
•    Embryos are cryopreserved following biopsy. The suitable embryos, based on the PGT-M results, are thawed and transferred to the patient's uterus in a subsequent cycle.

Is it safe to perform PGT-M?

It is safe to carry out PGT-M. The procedure needs to be handled by a skilled embryologist. Normal embryo development can be seen after the embryo biopsy.

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