ArticleJournal of assisted reproduction and genetics2024
Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 2022.
Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Prospective clinical validation of targeted long-read sequencing for preimplantation genetic testing of α-thalassaemia.Reproductive biology and endocrinology : RB&E · 2026Article
- Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification.BMC genomics · 2026Article
- Comprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic gene disorders via the Sanger sequencing technique.Molecular biology reports · 2025Article
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Thalassemia and assisted reproduction: non-transfusion-dependent thalassemia shows no significant effect on live birth rates after embryo transfer.Frontiers in cell and developmental biology · 2025Article
- Women's thalassemia status and embryo carrier status do not affect pregnancy outcomes after euploid transfers.Frontiers in endocrinology · 2025Article
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Authors and funding
17 authors.
Funding
Abstract
purposeIn clinical practice, the success of preimplantation genetic testing for monogenic diseases (PGT-M) for thalassemia was hindered by the absence of probands, incomplete family members, or failure in detecting embryonic gene mutation sites. This study aimed to address these issues.
methodsThis retrospective study included 342 couples undergoing PGT-M for α- or β-thalassemia at three reproductive medicine centers from 2019 to 2022. Various methods were used to construct parental haplotypes. A total of 1778 embryos were analyzed and selected for transfer based on chromosomal ploidy and PGT-M results. Follow-up involved amniocentesis results and clinical outcomes.
resultsHaplotypes were established using DNA samples from probands or parents, as well as sibling blood samples, single sperm, and affected embryos, achieving an overall success rate was 99.4% (340/342). For α-thalassemia and β-thalassemia, the concordance between embryo single nucleotide polymorphism (SNP) haplotype analysis results and mutation loci detection results was 93.8% (1011/1078) and 98.2% (538/548), respectively. Multiple annealing and looping-based amplification cycles (MALBAC) showed a higher whole genome amplification success rate than multiple displacement amplification (MDA) (98.8% (1031/1044) vs. 96.2% (703/731), p < 0.001). Amniocentesis confirmed PGT-M outcomes in 100% of cases followed up (99/99).
conclusionThis study summarizes feasible solutions to various challenging scenarios encountered in PGT-M for thalassemia, providing valuable insights to enhance success rate of PGT-M in clinical practice.
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