Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

Ren, Yixuan; Zhi, Xu; Zhu, Xiaohui; Huang, Jin; Lian, Ying; Li, Rong; Jin, Hongyan; Zhang, Yan; Zhang, Wenxin; Nie, Yanli; Yuan, Wei; Liu, Zhaohui; Song, Di; Liu, Ping; Qiao, Jie; Yan, Liying

doi:10.1016/j.jgg.2016.03.011

Cited by 30 publications

(30 citation statements)

References 37 publications

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“…Embryos 1, 6, 8, 16, 22, 26 and 30 were aneuploidy. As sequencing costs decrease further, allowing for a greater read depth per sample for the same or a reduced price, NGS approaches provide simultaneous evaluation of single-gene disorders and translocations with comprehensive aneuploidy screening from the same biopsy without the requirement for multiple technological platforms (7,18,30,31). Compared to array CGH or SNP array, the NGS approach not only detects mosaic blastocysts, but may also be effective in characterizing small abnormal chromosomal fragments (24).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the dependence of DNA samples from family members may limit its application. NGS-based linkage analysis may still correctly diagnose the embryos by using the affected embryo as the proband under the circumstance of the absence of suitable affected family members (18). Chromosomal copy number assessment based on NGS may offer two major advantages: i) Enhanced detection of partial or segmental aneuploidies as a result of the potential increase in chromosomal analysis resolution to a few Mb, and ii) the potential automation of the sequencing library preparation to minimize human errors, reduce hands-on time, and achieve higher throughput and consistency (35,36).…”

Section: Discussionmentioning

confidence: 99%

“…However, karyomapping has its limitations. For instance, for certain genes, which have low SNP coverage, polymerase chain reaction (PCR) testing, including STR analysis or direct mutation detection, is required to be performed in parallel (18). Thus, it would be more practical if specific SNPs were to be identified for rare inherited diseases with higher SNP densities near the causal genes (14).…”

Section: Introductionmentioning

confidence: 99%

“…With the advent of next-generation sequencing (NGS) techniques, an opportunity arises to perform cost�efficient genetic testing by sequencing in different clinical scenarios, which may contribute to definitive improvements in the genetic assessment of embryos prior to transfer to the uterus (19). NGS-based methods, including Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses and haplotyping analysis, have been successfully applied in SGDs and chromosomal copy number assessment (7,18,20,21).…”

Section: Introductionmentioning

confidence: 99%

“…NGS-based aneuploidy screen for embryos. (A) NGS-based aneuploidy screen for embryo 1: Segmental imbalances for chr2,5,8,9,11,15,16,18,20 and 22. (B) NGS-based aneuploidy screen for embryo 4: Normal.…”

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confidence: 99%

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Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

et al. 2019

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Infantile neuroaxonal dystrophy (INAD) is a rare, lethal, autosomal recessive neurodegenerative disease and leads to progressive impairment of movement and cognition. A couple with a proband child with calcium-independent group VI phospholipase A2 (PLA2G6)-associated INAD and a previous affected pregnancy sought pre-implantation genetic diagnosis (PGD) to bear a healthy child. Intracytoplasmic sperm injection treatment was performed and 15 blastocystic embryos were obtained at days 5 and 6, and these biopsies were amplified. PGD was performed by next-generation sequencing-based linkage analysis in conjunction with aneuploidy screening. Only two embryos were considered for transfer. In the second frozen-thawed embryo transfer cycle, transfer of a mosaic PLA2G6 c.692G>T heterozygous embryo resulted in a singleton ongoing pregnancy. Prenatal diagnosis was performed using amniotic fluid cells, providing results consistent with those of PGD. The aneuploidy screen and karyotype analysis indicated that the chromosomes of the fetus were normal without any mosaicism. The present study reported the first successful PGD for INAD. For parents at risk, this strategy may successfully lead to pregnancies with embryos unlikely to develop INAD, thus providing valuable experience in reproductive management regarding INAD and potentially other single-gene disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

et al. 2019

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Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis

Ren,

Peng,

Chen

et al. 2024

Prenatal Diagnosis

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ObjectiveCurrently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels.MethodsWe conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS‐based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios.ResultsResults indicate that ASA offers a greater number of informative SNPs compared with NGS‐based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT‐M challenges, we have also identified certain genes in previous tests that are not suitable for PGT‐M using ASA.ConclusionThe application of ASA in PGT‐M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.

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PGT-M for Couples with a Single-Gene Disorder

Layman

2020

Textbook of Assisted Reproduction

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Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

Cited by 30 publications

References 37 publications

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis

PGT-M for Couples with a Single-Gene Disorder

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