Interchromosomal Insertion Carriers PGT-SR

Management of Insertional Translocation Carriers for Preimplantation Genetic Testing and the Relevance of Sperm Analysis for Reproductive Risk Estimation.

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04978402

Enrollment

Registered

2021-07-27

Start date

2011-10-01

Completion date

2019-04-01

Last updated

2021-07-27

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

Conditions

Infertility, Interchromosomal Breakpoint

Keywords

Patients carriers of Insertional translocation (IT), Several years of miscarriages, Abrotions and primary infertility, Interchromosomal insertion, PGT-SR, Sperm.

Brief summary

Interchromosomal insertions (IT) are rare and complex structural rearrangements. Theoretically, the risk to have a child to term with a malformation or mental retardation can reach 50% related to the proportion of unbalanced gametes produced from behavior of chromosomes during meiosis. However, the meiotic segregation of IT has rarely been studied. This study provide an accurate reproductive risk of IT carriers resulting from a combined analysis of Sperm-FISH and preimplantation genetic testing for structural rearrangement (PGT-SR) management of IT carriers.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

\- Adult patient whom carrying Insertional translocation in the context of PGT-SR management

Exclusion criteria

\- Patient who reject the study protocol

Design outcomes

Primary

Measure	Time frame	Description
estimate the IT carrier's reproductive risk	day 1	estimate the IT carrier's reproductive risk by investigation of the meiotic segregation of sperm from IT carriers by FISH and evaluate PGT-SR results of male and female IT carriers

Countries

France

Outcome results