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

Completed

• Conditions: Aneuploidy; Genetic Disease

• Registration Number: NCT05936749
• Lead Sponsor: Istituto Clinico Humanitas

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2016-01-02
• Primary Completion: 2022-12-12
• Study Completion: 2022-12-12
• Status Verified: 2023-06
• Study First Submitted: 2023-06-14
• Study First Submitted QC: 2023-06-29
• Last Update Submitted: 2023-06-29
• Study First Posted: 2023-07-10
• Last Update Posted: 2023-07-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 76

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Live birth rate (LBR)	7 years of inclusion	LBR will be measured as a percentage
Abortion rate (AR)	7 years of inclusion	AR will be measured as a percentage
Cumulative live birth rate (CLBR) per couple	7 years of inclusion	CLBR per couple will be measured as a percentage

Secondary Outcome Measures

Name	Time	Method
Aneuploidy	7 years of inclusion	Aneuploidy embryo rate will be measured as a percentage