ArticleClinical and translational medicine2021
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Article in Clinical and translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent spontaneous abortion: a case report.Journal of assisted reproduction and genetics · 2026Article
- Clinical application of preimplantation genetic testing for pathogenic microdeletion and microduplication based on an effective and convenient sequencing platform.Journal of assisted reproduction and genetics · 2026Article
- Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers.Journal of human genetics · 2026Article
- An Integrated Preimplantation Genetic Testing Approach with MALBAC-Based Whole-Genome Sequencing.Methods in molecular biology (Clifton, N.J.) · 2026Article
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study.EBioMedicine · 2025Article
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Shear wave elastography to assess stiffness of the human ovary and other reproductive tissues across the reproductive lifespan in health and disease†.Biology of reproduction · 2024Review
- Extended application of PGT-M strategies for small pathogenic CNVs.Journal of assisted reproduction and genetics · 2024Article
- Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases.Frontiers in molecular biosciences · 2024Article
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.BMC medical genomics · 2023Article
- SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.Scientific reports · 2023Article
- A novel noninvasive prenatal testing method for chromosomal rearrangements using maternal circulating cell-free foetal DNA.Clinical and translational medicine · 2023Article
- An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo.Current genomics · 2022Review
- Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.Journal of assisted reproduction and genetics · 2022Article
- A comprehensive and universal approach for embryo testing in patients with different genetic disorders.Clinical and translational medicine · 2021Article
- Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease-causing genes and chromosome abnormalities. However, for detecting whole or segmental chromosome aneuploidies, gene variants or balanced chromosome rearrangements in the same embryo require separate procedures, and none of the existing detection platforms is universal for all patients with different genetic disorders.
methodsHere, we report a cost-effective, family-based haplotype phasing approach that can simultaneously evaluate multiple genetic variants, including monogenic disorders, aneuploidy, and balanced chromosome rearrangements in the same embryo with a single test. A total of 12 monogenic diseases carrier couples and either of them carried chromosomal rearrangements were enrolled simultaneously in this present study. Genome-wide genotyping was performed with single-nucleotide polymorphism (SNP)-array, and aneuploidies were analyzed through SNP allele frequency and Log R ratio. Parental haplotypes were phased by an available genotype from a close relative, and the embryonic genome-wide haplotypes were determined through family haplotype linkage analysis (FHLA). Disease-causing genes and chromosomal rearrangements were detected by haplotypes located within the 2 Mb region covering the targeted genes or breakpoint regions.
resultsTwelve blastocysts were thawed, and then transferred into the uterus of female patients. Nine pregnancies had reached the second trimester and five healthy babies have been born. Fetus validation results, performed with the amniotic fluid or umbilical cord blood samples, were consistent with those at the blastocyst stage diagnosed by PGT.
conclusionsWe demonstrate that SNP-based FHLA enables the accurate genetic detection of a wide spectrum of monogenic diseases and chromosome abnormalities in embryos, preventing the transfer of parental genetic abnormalities to the fetus. This method can be implemented as a universal platform for embryo testing in patients with different genetic disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.