PGT-A upgrade: A comprehensive PGT solution capable of simultaneously detecting embryonic chromosomal aneuploidy, mosaicism, microdeletions/ microduplications, heteroploidy, and LOH in a single assay.
Study summary
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.
Eligibility
Sex
FEMALE
Min age
20 Years
Max age
46 Years
Healthy volunteers
No
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.
Primary outcome measure(s)
Incidence of microdeletions/microduplications — 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.
Incidence of heteroploidy — 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.
Incidence of loss of heterozygosity — 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
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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