Development and testing of advanced genetic testing for embryos
Technological Development and Clinical Parallel Testing of Preimplantation Genetic Testing for Generalization
This study is testing a new genetic testing method for embryos to see if it can help couples with genetic diseases by making the process faster, cheaper, and more accurate.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 55 (estimated) |
| Ages | 20 Years to 45 Years |
| Sex | All |
| Sponsor | Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University Academic / other |
| Locations | 1 site (Guangzhou, Guangdong Provicne) |
| Trial ID | NCT05609708 on ClinicalTrials.gov |
What this trial studies
This study focuses on improving preimplantation genetic testing (PGT) for couples with genetic diseases by utilizing a new technology called single-tube complete Long fragment whole genome sequencing (stLFR-WGS). The aim is to streamline the testing process for multiple genetic abnormalities while reducing costs and time. By customizing probes and detection methods, the study seeks to enhance the accuracy of genetic testing in embryos, particularly for those with monogenic diseases or chromosomal abnormalities. The study will observe patients undergoing PGT cycles and analyze the effectiveness of this new approach.
Who should consider this trial
Good fit: Ideal candidates for this study are patients undergoing PGT cycles with diagnosed monogenic genetic diseases or balanced chromosomal structural rearrangements.
Not a fit: Patients who have contraindications for PGT or have experienced failures in embryo biopsy or sequencing may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate and efficient genetic testing for embryos, improving outcomes for couples facing genetic diseases.
How similar studies have performed: While there have been advancements in genetic testing technologies, this specific approach using stLFR-WGS is relatively novel and has not been extensively tested in similar studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Guangzhou, Guangdong Provicne
- Sun Yat-sen Memorial Hospital, Sun Yat-sen University — Guangzhou, Guangdong Provicne, China (Recruiting)
Study contacts
- Study coordinator: Ping Yuan, PhD
- Email: kekeyp1983@163.com
- Phone: 86-20-81332230
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.