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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05936749

Enrollment

Registered

2023-07-10

Start date

2016-01-02

Completion date

2022-12-12

Last updated

2023-07-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Aneuploidy, Genetic Disease

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.

Interventions

GENETICPre-implantation genetic testing

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

34 Years to 42 Years

Inclusion criteria

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

Exclusion criteria

* No

Design outcomes

Primary

Measure	Time frame	Description
Live birth rate (LBR)	7 years of inclusion	LBR 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
Abortion rate (AR)	7 years of inclusion	AR will be measured as a percentage

Secondary

Measure	Time frame	Description
Aneuploidy	7 years of inclusion	Aneuploidy embryo rate will be measured as a percentage

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026