Technological Development and Clinical Parallel Testing of PGT-G

Technological Development and Clinical Parallel Testing of Preimplantation Genetic Testing for Generalization

Preimplantation genetic testing (PGT) has three different testings according to the type of genetic disease, which was classified as PGT-M, PGT-SR and PGT-A. If the couple is tested for two different genetic diseases at the same time, it is necessary to customize the probe and adopt different detection methods, which increases the cost and cycle of testing. Advanced expert pre-experimental analysis is required for PGT-M in couples with monogenic disease. If the family members are unavailable, only the polar bodies, sperms or affected embryos can be used to analysis, which not only increases the risk of failure, but also increases the difficulty of detection. At present, BGI has developed a new single-tube complete Long fragment whole genome sequencing (stLFR-WGS) technology, which uses the same molecular tag on the short read sequencing fragments from the same long DNA molecule to achieve accurate short read sequencing to obtain long DNA information. Multiple genetic abnormalities such as gene variation, chromosome aneuploidy and chromosome structure rearrangement can be directly detected in embryos without pre-experiment of family members, so as to achieve universal normalization of the three PGT methods and solve the PGT detection needs of patients with multiple genetic diseases.

Study Overview

• Status: Recruiting
• Conditions: Genetic Disease

• Study Type: Observational
• Enrollment (Estimated): 55

Contacts and Locations

• Study Contact: Name: Ping Yuan, PhD; Phone Number: 86-20-81332230; Email: kekeyp1983@163.com
• Study Contact Backup: Name: Liushan Ou; Email: sys_iit@163.com

Study Locations

• China
  • Guangdong Provicne
    • Guangzhou, Guangdong Provicne, China, 510120
      • Recruiting
      • Sun Yat-sen Memorial Hospital, Sun Yat-sen University
      • Contact: Ping Yuan, PhD; Phone Number: 86-20-81332230; Email: kekeyp1983@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years to 45 years (Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Patients with genetic diseases undergoing PGT cycle

Description

Inclusion Criteria:

1. Patients undergoing PGT cycle;
2. Patients with balanced chromosomal structural rearrangement (reciprocal translocation, Robertsonian translocation, inversion, etc.) by conventional karyotype analysis;
3. Clearly diagnosed monogenic genetic disease, and the related genes and their mutations are judged to be pathogenic or likely pathogenic;
4. Chromosomal abnormalities in recurrent abortion tissues or in PGT-A embryos; The number of blastocysts was >= 1, and the morphological classification was more than 4BC/4CB.

Exclusion Criteria:

1. Belonged to any contraindications of PGT;
2. Failed to embryo biopsy;
3. Failed to embryo WGA failure or abnormal quality control;
4. Failed to embryo sequencing, and the result was unknown.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
diagnosis specificity	specificity	1 day (the time of sequencing)
diagnosis sensitivity	sensitivity	1 day (the time of sequencing)

Collaborators and Investigators

• Sponsor: Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

Study record dates

Study Major Dates

• Study Start (Actual): December 12, 2022
• Primary Completion (Estimated): November 1, 2024
• Study Completion (Estimated): November 1, 2025

Study Registration Dates

• First Submitted: November 3, 2022
• First Submitted That Met QC Criteria: November 7, 2022
• First Posted (Actual): November 8, 2022

Study Record Updates

• Last Update Posted (Actual): May 10, 2024
• Last Update Submitted That Met QC Criteria: May 8, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Keywords: PGT; stLFR-WGS
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn
• Other Study ID Numbers: SYSKY-2022-245-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No