Pre-implantation screening
Indications: Genetic diseases of the parents
 When both parents are carriers of a recessive disease
When both parents are carriers of a recessive disease
 Detection of chromosomal anomalies
Detection of chromosomal anomalies
 Women over 40 years of age
Women over 40 years of age
 Couples with a history of multiple failed IVF attempts
Couples with a history of multiple failed IVF attempts
 When one parent is a carrier of a dominant or sex-linked disease
When one parent is a carrier of a dominant or sex-linked disease
 Couples with offspring or pregnancies of embryos with chromosomal disorders
Couples with offspring or pregnancies of embryos with chromosomal disorders
 Couples with a history of miscarriages
Couples with a history of miscarriages
 Giving birth to HLA-compatible offspring
Giving birth to HLA-compatible offspring
Pre-implantation genetic testing is used for the identification
of single gene disorders in embryos, such as:
 Single gene disorders
Single gene disorders
 Thalassemia
Thalassemia
 Sex-linked diseases
Sex-linked diseases
 Duchenne’s muscular dystrophy
Duchenne’s muscular dystrophy
 Cystic fibrosis
Cystic fibrosis
 Huntington’s chorea
Huntington’s chorea
 Hemophilia
Hemophilia
 Sex-linked mental retardation
Sex-linked mental retardation
Obviously, PGT can only be performed in the context of IVF. The couple’s embryos are submitted to a biopsy and the cells retrieved from each embryo are submitted to genetic screening. Only normal embryos are implanted in the woman’s uterus.

