ArticleBMC medical genomics2019
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.
Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M.Frontiers in ophthalmology · 2025Article
- Preimplantation genetic testing for hereditary hearing loss in Chinese population.Journal of assisted reproduction and genetics · 2023Article
- Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.Molecular genetics & genomic medicine · 2023Article
- Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant ofFrontiers in genetics · 2023Article
- Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.Kidney diseases (Basel, Switzerland) · 2021Article
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Authors and funding
20 authors.
Funding
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Abstract
backgroundPreimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay.
methodsOne couple at risk of transmitting Usher Syndrome to their offspring was recruited to this study. Customized capture probe targeted at USH2A gene and 350 kb flanking region were designed for PGT-M. Eleven blastocysts were biopsied and amplified by using multiple displacement amplification (MDA) and capture sequencing. A hidden Markov model (HMM) assisted haplotype analysis was performed to deduce embryo's genotype by using single nucleotide polymorphisms (SNPs) identified in each sample. The embryo without paternal rare variant was implanted and validated by conventional prenatal or postnatal diagnostic means.
resultsFour embryos were diagnosed as free of father's rare variant, two were transferred and one achieved a successful pregnancy. The fetal genotype was confirmed by Sanger sequencing of fetal genomic DNA obtained by amniocentesis. The PGT-M and prenatal diagnosis results were further confirmed by the molecular diagnosis of the baby's genomic DNA sample. The auditory test showed that the hearing was normal.
conclusionsTargeted capture sequencing is an effective and convenient strategy to develop customized PGT-M assay.
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