Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience

Istituto Clinico Humanitas

Status: Completed

Conditions: Aneuploidy; Genetic Disease

Treatments: Genetic: Pre-implantation genetic testing

Study type: Observational

Funder types: Other

Identifiers

NCT05936749

14/23

Details and patient eligibility

About

This monocentric retrospective observational study aims to evaluate the efficacy of pre-implantation genetic testing for monogenic diseases (PGT-M). The effectiveness will be assessed in terms of live birth rate (LBR), cumulative live birth rate (CLBR) per couple, and abortion rate (AR). Considering how many cycles the participants have undergone to achieve a viable blastocyst. The secondary objective is to evaluate the incidence of aneuploidy in unaffected embryos, in order to understand the need for pre-implantation genetic testing for aneuploidy (PGT-A)in addition to PGT-M.

Enrollment: 76 patients

Sex: Female

Ages: 34 to 42 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients fertile or infertile that have undergone preimplantation genetic testing for monogenic diseases (PGTM).

Exclusion criteria

• No exclusion criteria will be taken into consideration.

Trial design