Pre-implantation genetic haplotyping of embryos using next-generation sequencing

• Conditions: chromosomal anomalies; monogenic diseases; 10083624

• Registration Number: NL-OMON42386
• Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 266

Inclusion Criteria

Couple undergoed IVF/PGD treatment for a monogenic disease or chromosomal disorder (diagnosed by aCGH )

Exclusion Criteria

Couples unable to give informed consent to all aspects of the study or unable to comply with the protocol.

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Research phase<br /><br>Percentage invalid results<br /><br>for monogenic disorders in blastomere cells and in trophectoderm cells<br /><br>for chromosomal disorders in in blastomere cells and in trophectoderm cells<br /><br>for chromosomalaneuploidy in blastomere cells and in trophectoderm cells<br /><br><br /><br>Verification phase<br /><br>Sensitivity of the NGS-based haplotyping method<br /><br>for monogenic disorders in blastomere cells and in trophectoderm cells<br /><br>for chromosomal disorders in in blastomere cells and in trophectoderm cells<br /><br>for chromosomalaneuploidy in blastomere cells and in trophectoderm cells </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>NA</p><br>