Genetic testing of embryos prior to implantation or PGT refers to a group of genetic screening tests performed on embryos before its transfer during an IVF cycle. It helps to detect if the embryo has any chromosomal or genetic abnormalities. It’s a great tool for better embryo selection which can also result in increased chances of pregnancy, decreased risk of miscarriage and prevents the transmission of various inherited diseases in the infant.
PGT-A (pre-implantation genetic testing for aneuploidy) – It helps in screening for numerical chromosomal abnormalities (aneuploidy). This is mainly used for women with advanced maternal age, previous repeated IVF failures or h/o recurrent abortion.
PGT-M (pre-implantation genetic testing for monogenic disorders) – This is used in couples who are known carriers or affected by inherited diseases. It is also used to test for single gene disorders like thalassemia, cystic fibrosis etc. This requires prior paternal genetic workup and family mutation mapping.
PGT – SR (pre-implantation genetic testing for structural rearrangements) This helps to screen the embryos from individuals with balanced chromosomal translocations or inversions to prevent the implantation of embryos with unbalanced chromosomal arrangements.
This is also useful in couples with RPL.
The eggs are collected during egg pickup and fertilized with sperm in the lab.
Then embryos are grown in lab till they reach blastocyst stage on day 5 or day 6.
A few cells are then taken from the outer layer of blastocyst i.e. trophectoderm. The cells are not taken from the part of blastocyst that forms the baby i.e. inner cell mass is not disturbed.
These biopsied cells are sent to the genetic lab for testing.
The biopsied embryo is then frozen to be used at a later date after report.
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