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Pre-implantation genetic study and its importance for fertilization in the prevention of genetic disorders

Tárik Kassem Saidah, Waldermar Naves do Amaral, Patrícia Gonçalves Evangelista, Roberta Silva Soares Ferreira Ghiggi , Mohamed kassem Saidah

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Objective: This review is to address the pre-implantation genetic study and its importance for fertilization in the prevention of genetic disorders. Methods: Review bibliographic. Results: Pre-implantation Genetic Diagnosis (PGD) is a reproductive option for couples at risk of conceiving a child with a known genetic disorder avoiding having an affected child and consequently discontinuing pregnancy or recurrent miscarriages. Several methods for the biopsy of the embryonic material can be used. Polar corpuscle biopsy is usually performed in countries that do not allow embryonic manipulation. Several methods can be used to perform the genetic study. PCR has been the preferred method of PGD diagnosis for disorders of a single gene. Fluorescent in situ hybridization (FISH) is a method for embryonic chromosome analysis, its utility is limited primarily because only a small number of chromosomes can be identified in each embryo. Final considerations: The technique of Pre‐implantation Genetic Diagnosis is a great ally of in vitro fertilization, offering these couples the chance to form a healthy family, but there is still a little dissemination of the method.


genetic study; pgd; fertiliz.


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