Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis

Xiao, Min; Chen, Lei; Xi, Yanping; Lu, Yulin; Wu, Junping; Li, Xiaoyü; Zhang, Shuo; Zhu, Senlai; Zhou, Jing; Li, Xiong; Zhang, Yueping; Sun, Xiaoxi

doi:10.1016/j.jmoldx.2021.02.011

Cited by 20 publications

(22 citation statements)

References 42 publications

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“…The probability that the patient could naturally give birth to normal offspring was extremely low. Although the rapid development of third-generation IVF assisted reproductive technology in recent years could help CCR carriers with low fertility to give birth successfully [20][21][22][23][24][25], the probability of obtaining normal or balanced embryos was very low and expensive. It may cause great harm to the patient and his family both physically and mentally.…”

Section: Discussionmentioning

confidence: 99%

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Ping

Wei

et al. 2022

Preprint

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Background Using combined fluorescence in situ hybridization (FISH) and high-throughput whole genome sequencing (WGS) molecular cytogenetic technology, we aim to analyze the junction breakpoints of complex chromosome rearrangements (CCR) that were difficult to identify by conventional karyotyping analysis and further characterize the genetic causes of recurrent spontaneous abortion. Results By leveraging a combination of current molecular techniques including chromosome karyotype analysis, FISH and WGS, we were able to fully characterize the extremely complex chromosomal abnormalities in this patient with recurrent spontaneous abortions. Here, we demonstrated that combining these current established molecular techniques is an effective and efficient workflow to identify the structural abnormalities of complex chromosomes and locate the rearrangement of DNA fragments. Conclusions In conclusion, leveraging results from multiple molecular and cytogenetic techniques can provide the most comprehensive genetic analysis for genetic etiology research, genetic diagnosis and genetic counseling for patients with recurrent spontaneous abortion and embryonic abortion.

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Section: Discussionmentioning

confidence: 99%

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Ping

Wei

et al. 2022

Preprint

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“…The low-level mosaicism (≤50%) referred to the simple mosaicism of a single chromosome or a segmental chromosome. The proportion of abnormal mosaicism was less than 50% and the simple low-level mosaicism could be the secondary candidates of FET (14). Euploid embryos were subclassified into three categories: the unaffected embryos refer to the embryos without paternal or maternal variants; the affected embryos refer to those with variants from both paternal and maternal in AR diseases, at least one variants of dominant diseases associated gene, or the hemizygous variants of X-linked recessive diseases associated gene; the embryos of carrier embryos refer to the one which carried only one paternal/maternal variants in AR diseases or the heterozygote variants of X-linked recessive diseases.…”

Section: Genetic Testing Of Blastocystmentioning

confidence: 94%

“…The prenatal diagnosis was performed at about the 16th week after FET. All the above procedures adopt the standard IVF techniques of Shanghai JIAI Genetics and IVF Institute (14).…”

Section: Study Design and Participantsmentioning

confidence: 99%

“…Whole genome amplification was performed using a REPLIg Single Cell Kit (QIAGEN, Hilden, Germany) according to the manufacturer's protocol as described earlier (14). For tissue and peripheral blood samples from the family, the DNA was isolated using DNeasy Blood & Tissue Kit as described in the manufacturers' protocol (QIAGEN, Germany).…”

Section: Genetic Testing Of Blastocystmentioning

confidence: 99%

“…The microarray scanning results were processed using the B allele frequency and Log R Ratio. The software used for subsequent analysis and the analysis process are as previously reported (14). The Karyomapping data for each sample was imported into BlueFuse-Multi V4.0 software (Illumina, San Diego, CA, United States) according to the analysis guidelines (21) recommended by the manufacturer for genome wide analysis of genetic disease based on SNP haplotyping mapping crossovers between parental haplotypes to distinguish the chromosomes that carried the mutation.…”

Section: Genetic Testing Of Blastocystmentioning

confidence: 99%

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Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis

Xiao

Shi²,

Rao³

et al. 2022

Front. Med.

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BackgroundGenetic kidney disease is a major cause of morbidity and mortality in neonates and end-stage renal disease (ESRD) in children and adolescents. Genetic diagnosis provides key information for early identification of congenital kidney disease and reproductive risk counseling. Preimplantation genetic testing for monogenic disease (PGT-M) as a reproductive technology helps prospective parents to prevent passing on disease-causing mutations to their offspring.Materials and MethodsA retrospective cohort of couples counseled on PGT who had a risk to given birth to a child with genetic kidney disease or had a history of prenatal fetal kidney and urinary system development abnormalities from 2011 to 2021. Through a combination of simultaneously screening for aneuploidy and monogenic kidney disease, we achieved reproductive genetic intervention.ResultsA total of 64 couples counseled on PGT for monogenic kidney disease in a single reproductive center during the past 10 years, of whom 38 different genetic kidney diseases were identified. The most frequent indications for referral were autosomal recessive disease (54.7%), then autosomal dominant disease (29.7%), and X-linked disease (15.6%). Polycystic kidney disease was the most common diseases counted for 34.4%. After oocyte-retrieval in all of 64 females, a total of 339 embryos were diagnosed and 63 embryos were transferred in succession. Among 61 cycles of frozen-embryo transfer (FET), ongoing pregnancy/live birth rate (OP/LBR) reached 57.38%. The cumulative OP/LBR in our cohort for the 64 couples was 54.69%. In addition, we have carried out expanded carrier screening (ECS) in all the in vitro fertilization (IVF) couples performed PGT covering 7,311 individuals. The carrier frequency of the candidate genes for monogenic kidney diseases accounted for 12.19%.ConclusionOverall, the customization PGT-M plan in our IVF center is pivotal to decreasing the morbidity and implementing reproductive genetic intervention of genetic kidney disease.

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Preimplantation genetic testing: A remarkable history of pioneering, technical challenges, innovations, and ethical considerations

Latham

2024

Molecular Reproduction Devel

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Preimplantation genetic testing (PGT) has emerged as a powerful companion to assisted reproduction technologies. The origins and history of PGT are reviewed here, along with descriptions of advances in molecular assays and sampling methods, their capabilities, and their applications in preventing genetic diseases and enhancing pregnancy outcomes. Additionally, the potential for increasing accuracy and genome coverage is considered, as well as some of the emerging ethical and legislative considerations related to the expanding capabilities of PGT.

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Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis

Cited by 20 publications

References 42 publications

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis

Preimplantation genetic testing: A remarkable history of pioneering, technical challenges, innovations, and ethical considerations

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