Prospective International Multi-center Clinical Trial of PGT-A Upgrade

April 9, 2026 updated by: Reproductive & Genetic Hospital of CITIC-Xiangya

Efficacy of PGT-A Upgrade in Preimplantation Genetic Testing of Embryos: An International Multicenter Prospective Clinical Study

The goals of this international multicenter cross-sectional study are:

  1. To provide patients with a comprehensive PGT solution capable of simultaneously detecting embryonic chromosomal aneuploidy, mosaicism, microdeletions/ microduplications, heteroploidy, and heterozygosity (LOH) in a single assay, thereby reducing miscarriage and birth defects;
  2. To perform PGT analysis on abnormally fertilized embryos, select euploid embryos with normal ploidy, and calculate embryo utilization rates;
  3. To reduce the false-positive rate through confirmation of mosaic embryos and subsequent analysis of its origin, thereby minimizing embryo wastage;
  4. To provide molecular genetic evidence for expert consensus on clinical management of atypically fertilized embryos, of pathogenic/likely pathogenic small CNVs, optimize mosaic embryo transfer strategies, and inform preconception intervention;
  5. To enhance international PGT testing standards through international multi-center collaboration.

The study will enroll patients undergoing PGT-A from seven domestic and international centers, with patient enrollment expected to be completed within one year. PGT-A upgrade testing will be performed on embryos from enrolled patients, and the incidence rates of Incidence of microdeletions/microduplications, heteroploidy, LOH will be statistically analyzed. All patients who undergo embryo transfer will be followed up for clinical outcomes and birth defects.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

The study will enroll 6,694 embryos derived from typical fertilization (2PN) that meet the inclusion and exclusion criteria in patients undergoing PGT-A, as well as all embryos derived from atypical fertilization (0PN/1PN/3PN). In contrast to conventional PGT-A testing, PGT-A upgrade testing will be performed on the embryos to comprehensively analyze multiple embryonic abnormalities in a single detection, including aneuploidy, mosaicism, microdeletion/microduplication, heteroploidy, and loss of heterozygosity (LOH), and to calculate their respective incidence rates.

In addition to embryos derived from 2PN, embryos from 0PN/1PN/3PN will also be cultured to the blastocyst stage for trophectoderm (TE) cell biopsy. Euploid embryos identified by PGT-A upgrade testing will be recorded, and the utilization rate of atypically fertilized embryos will be evaluated.

For mosaic embryos, a previously established parental haplotype origin algorithm will be applied to distinguish true versus false mosaicism and identify the origin of abnormalities, thereby recognizing "false-positive" mosaic embryos and further increasing the number of transferable embryos.

Patients will receive euploid embryo transfer (from 2PN) in accordance with routine clinical practice. In cases where no 2PN-derived euploid embryos are available, transfer of 0PN/1PN/3PN-derived euploid embryos and embryos classified as "false-positive" mosaic may be considered after the patient has been fully informed of the risks and provided informed consent.

All transfer cycles will be followed up for prenatal diagnosis results and birth defects. The primary outcome measures are the incidence rates of microdeletion/microduplication, heteroploidy, and LOH. The secondary outcome measures include embryo utilization rate, clinical pregnancy rate, ongoing pregnancy rate, live birth rate, miscarriage rate, concordance rate between prenatal diagnosis results and PGT-A results, and birth defect rate.

The maximum follow-up duration will be 1 year after embryo transfer. Clinical and embryology laboratory procedures during the study will not be altered and will be performed in accordance with each center's routine practice.

Study Type

Observational

Enrollment (Estimated)

1700

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Argentina
  • China
    • Hunan
      • Changsha, Hunan, China
        • CITIC-Xiangya Reproductive & Genetic Hospital
        • Contact:
        • Principal Investigator:
          • Ge Lin
    • Jiangsu
      • Nanjing, Jiangsu, China
        • Nanjing Women and Children's Healthcare Hospital
        • Contact:
        • Principal Investigator:
          • Xiufeng Ling
    • Yunnan
      • Kunming, Yunnan, China
        • First People's Hospital of Yunnan Province
        • Contact:
        • Principal Investigator:
          • Yunxiu Li
  • Malaysia
      • Petaling Jaya, Malaysia
  • South Korea
      • Daegu, South Korea
        • Miracle
        • Contact:
        • Principal Investigator:
          • Yu Song Hee
  • Spain

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

This study is a cross-sectional study with a two-sided test and α = 0.05. Based on the analysis of existing data from previous PGT-A upgrade studies performed in 2PN embryos, the total incidence rate (p) of microdeletion/microduplication, heteroploidy, and UPD/LOH in euploid embryos is estimated to be 2.0%, with a margin of error (δ) of 0.005. The required number of euploid embryos is 3,012, and the calculation formula is provided below. Given that the euploidy rate is approximately 50%, a total of 6,024 embryos tested by PGT-A upgrade needs to be enrolled. Considering the potential dropout risk (10%), 6,694 embryos from two pronuclei (PN) are included. All embryos from 0PN/1PN/3PN are included.

Description

Inclusion Criteria:

(1) Any one of the following conditions being met is sufficient:

  1. advanced maternal age (AMA, age ≥35 years),
  2. recurrent implantation failure (RIF),
  3. recurrent miscarriage (RM),
  4. severe male factor (SMF). (2) And at least one blastocyst is available.

Exclusion Criteria:

  1. Couples undergoing PGT-SR due to chromosomal structural abnormalities carried by either one or both members, such as balanced translocations, Robertsonian translocations, inversions, complex chromosomal rearrangements, and pathogenic microdeletions or microduplications;
  2. Couples undergoing PGT-M;
  3. Conditions with established impact on uterine morphology or endometrial receptivity, including untreated uterine malformations (septate uterus, unicornuate uterus, didelphic uterus, etc.) and untreated hydrosalpinx;
  4. Embryos coming from oocyte or sperm (gametes) donation;
  5. Individuals with contraindications to pregnancy or assisted reproduction technology.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
PGT-A upgrade group
Other: PGT-A upgrade
A comprehensive PGT solution capable of simultaneously detecting embryonic chromosomal aneuploidy, mosaicism, microdeletions/ microduplications, heteroploidy, and LOH in a single assay.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence of microdeletions/microduplications
Time Frame: Two months after oocyte retrieval
Trophectoderm biopsy samples undergo whole genome amplification followed by NGS. Microdeletions and microduplications are identified according to Human Genome Assembly GRCh19 (hg19) or updated versions. The incidence will be calculated as the number of embryos with pathogenic or likely pathogenic microdeletions/microduplications (1-4M) divided by the total number of embryos.
Two months after oocyte retrieval
Incidence of heteroploidy
Time Frame: Two months after oocyte retrieval
Trophectoderm biopsy samples undergo whole genome amplification followed by NGS. Heteroploidy is identified according to Human Genome Assembly GRCh19 (hg19) or updated versions. The incidence will be calculated as the number of embryos with heteroploidy divided by the total number of embryos.
Two months after oocyte retrieval
Incidence of loss of heterozygosity
Time Frame: Two months after oocyte retrieval
Trophectoderm biopsy samples underwent whole genome amplification followed by NGS. Loss of heterozygosity were identified according to Human Genome Assembly GRCh19 (hg19) or updated versions. The incidence will be calculated as the number of embryos with loss of heterozygosity divided by the total number of embryos
Two months after oocyte retrieval

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Transferable embryo rate
Time Frame: Two months after oocyte retrieval
Trophectoderm biopsy samples undergo whole genome amplification followed by NGS. Normal karyotype is identified according to Human Genome Assembly GRCh19 (hg19) or updated versions. The rate will be calculated as the number of embryos with normal karyotype divided by the total number of embryos.
Two months after oocyte retrieval
Clinical pregnancy rate
Time Frame: 28-30 days after embryo transfer
Transvaginal ultrasonography will be performed. Clinical pregnancy will be diagnosed with detection of an intrauterine gestational sac
28-30 days after embryo transfer
Ongoing pregnancy rate
Time Frame: 12 weeks after the embryo transfer
Transvaginal ultrasonography will be performed. Ongoing pregnancy will be diagnosed with detection of an intrauterine gestational sac
12 weeks after the embryo transfer
Live birth rate
Time Frame: Two weeks after the newborn's birth
Live birth rate is defined as delivery of any viable infant at 28 weeks or more of gestation, after embryo transfer
Two weeks after the newborn's birth
Early miscarriage rate
Time Frame: 12 weeks of after the embryo transfer
Number of pregnancy losses / number of clinical pregnancies after transfer
12 weeks of after the embryo transfer
Concordance between prenatal diagnosis results and PGT-A results
Time Frame: 16-24 weeks of gestation

Prenatal diagnosis result: Chromosomal analysis performed on fetal samples obtained through chorionic villus sampling or amniocentesis, including karyotyping, chromosomal microarray analysis or next-generation sequencing.

PGT-A result: Chromosomal analysis performed by PGT-A upgrade.
16-24 weeks of gestation
Birth defect rate
Time Frame: At 1 year postpartum
Physical examination, echocardiography, X-ray/MRI, ophthalmologic examination, hearing screening
At 1 year postpartum

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Reproductive & Genetic Hospital of CITIC-Xiangya

Collaborators

The First People's Hospital of Yunnan
Nanjing Women and Children's Healthcare Hospital
Biocódices
Miracle
Institute Bernabéu
Thomson Hospital

Investigators

  • Principal Investigator: Ge Lin, CITIC-Xiangya Reproductive & Genetic Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

May 1, 2026

Primary Completion (Estimated)

June 1, 2027

Study Completion (Estimated)

August 1, 2028

Study Registration Dates

First Submitted

April 1, 2026

First Submitted That Met QC Criteria

April 9, 2026

First Posted (Actual)

April 16, 2026

Study Record Updates

Last Update Posted (Actual)

April 16, 2026

Last Update Submitted That Met QC Criteria

April 9, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • LL-SC-2026-003-01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Considering regulatory requirements, the IPD will not be shared.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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