Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Genetic Disease
- Sponsor
- Istituto Clinico Humanitas
- Enrollment
- 76
- Primary Endpoint
- Live birth rate (LBR)
- Status
- Completed
- Last Updated
- 2 years ago
Overview
Brief Summary
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.
Investigators
Eligibility Criteria
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.
Outcomes
Primary Outcomes
Live birth rate (LBR)
Time Frame: 7 years of inclusion
LBR will be measured as a percentage
Abortion rate (AR)
Time Frame: 7 years of inclusion
AR will be measured as a percentage
Cumulative live birth rate (CLBR) per couple
Time Frame: 7 years of inclusion
CLBR per couple will be measured as a percentage
Secondary Outcomes
- Aneuploidy(7 years of inclusion)