❤ Preimplantation Genetic Diagnosis (PGD/PGS-NGS)

• PGT-A
• PGT-M
• PGT-SR

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PGT-M

PGT-M (Preimplantation Genetic Testing for monogenic / single gene disorders), formerly known as PGD for monogenic diseases, is a genetic test for disorders in single genes (monogenic diseases). It involves the assessment of the genetic material of embryos formed during the in vitro procedure. The purpose of PGT-M is to reduce the risk of transferring a specific genetic disease to a child. The identification of mutations and the transfer of healthy embryos increases the chances of pregnancy and the birth of a healthy child.

Who should perform the PGT-M (PGD) test?

The PGT-M test is recommended for couples who are at high risk of transferring a specific defect of a single gene. The test should therefore be considered especially when:

• You and your partner are carriers of autosomal recessive disorder (eg cystic fibrosis),
• You or your partner are carriers of a sex-coupled disease (eg Duchenne muscular dystrophy),
• You or your partner are carriers of an autosomal dominant disease (eg Huntington's disease),
• You or your partner have a mutation associated with an inherited cancer syndrome (genes related to DNA repair),
• You have a child with a single gene defect,
• The cause of the miscarriage was a defect of a single gene in the fetus.

Why is it worth to perform the PGT-M (PGD) test?

• The study allows the selection of a healthy and best-promising embryo for transfer.
• The transfer of a healthy embryo increases the chance of pregnancy and the birth of a healthy child and reduces the risk of miscarriage.