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Preimplantation Genetic Testing for Monogenic gene/Single (PGT- M)

Preimplantation genetic testing for a monogenic gene (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 disorders (some common examples: Cystic Fibrosis, Spinal Muscular Dystrophies or SMA, Huntington Disease)
•    Women who had a prior pregnancy with a chromosomal deformity

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?

Embryo cells are required for the test, thus the biopsy process completes in two steps:
•    Opening of the Zona Pellucida (external shell of the embryo)
•    Removal of the embryo cell(s)
The biopsy is performed on either Day 3 or Day 5.
•    About 6 to 8 cells are present in a Day-3 embryo, so on Day-3, removal of only a single cell is done for the biopsy. 
•    A Day-5 embryo or a Blastocyst has multiple cells, and so numerous cells can be safely removed during the biopsy.
Different approaches for testing the embryo cells include PCR-technique, FISH-technique,  aCGH-technique and NGS. 
 

Is it safe to perform PGT-M?

It is safe to carry out PGT-M. No birth defects have been observed in IVF babies. The procedure needs to be handled by a skilled embryologist. Normal embryo development can be seen after the embryo biopsy.

Are all the hereditary disorders covered under PGT-M?

No, this test can only examine all possible genetic deformities. PGT-M will test an already known deformity.

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