- Sadbhavna Medical & Heart Institute
Patiala
Pre Implantation Genetic Testing: Screening and Diagnosis
What Is It?
Pre Implantation Genetic Testing is a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. Because only unaffected embryos are transferred to the uterus for implantation, pre implantation genetic testing provides an alternative to current post-conception diagnostic procedures.
Genetic Diagnosis is done for patients at high risk of transmitting a genetic abnormality to their children, including all mono-genic defects.
Genetic Screening is utilized in couples having no known chromosomal or genetic abnormalities in order to exclude aneuploid embryos.
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When Is It Indicated?
These include the following:
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Couples with balanced chromosomal translocations.
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Couples with a family history of X-linked disorders/Autosomal Recessive/Autosomal Dominant diseases which may be genetically inherited by the child.
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Women with advanced maternal age
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History of Recurrent Implantation Failure/ Recurrent Abortions.
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What can the patient expect?
In order to have embryos to biopsy, patients must undergo in vitro fertilization (IVF). After fertilization of the egg with sperm, embryos are allowed to develop. On day 3 or day 5 after egg retrieval, a single cell (blastomere) is removed from the developing embryo for genetic evaluation of the embryo. The embryos are frozen. Normal embryos are then transferred into the uterus for subsequent implantation/pregnancy.
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Pre Implantation Genetic Testing