scholarly journals Discrepancy of Karyotype and CMA/NGS in a PGD Patient With Cryptical Complex Chromosomal Rearrangement

2021 ◽  
Author(s):  
Ting Wang ◽  
Yinhuan Zhong ◽  
Xianzheng Li ◽  
Hanbiao Chen ◽  
Jian Lu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Chromosomal Abnormalities ◽  
Chromosome Rearrangement ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Next Generation ◽  
Chromosome 10 ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Introductions: Complex chromosome rearrangement (CCR) is a structural rearrangement involving more than two breakpoints. CCR carriers are at high risk for phenotypic abnormalities or reproductive failure, such as chromosomal abnormalities in fetuses and infertility. In this study, we presented a carriers with chromosome (3,18) balanced translocation, whose fetus had duplications in chromosome 3 and deletions in chromosome 10 demonstrated by chromosomal microarray analysis (CMA).By revealing the cryptical translocation, we aimed to provide CCR carriers with more accurate risk assessment of abnormal pregnancy and better assisted reproduction with CMA and next generation sequencing(NGS).Results: By using the high resolution of GTG-banding technology, a cryptical translocation in chromosome 10 was found and the karyotype of the carrier was revised as 46,XY,t(3;10;18) (p26.3;q26.1;q21.1).In the cycle of preimplantation genetic diagnosis (PGD),21 oocytes were retrieved, and 15 were fertilized. At last 7 embryos were biospied and sent to diagnosis by next generation sequencing(NGS).Unfortunately, none of the NGS results from the 7 biopsy embryos were normal. Combining previous literature and our results, we assessed the odds of a balanced embryo in a CCR carrier to be about 9.3%(28/302).The transferable embryo rate was approximately 71.4%(20/28) and healthy live born delivery rate was 55%(11/20).Conclusions: NGS and CMA featured high automation, relatively low cost, high throughput, and high repeatability, which made them commonly used during prenatal diagnosis and PGD. The multiple technology combination can provide more accurate diagnosis and better fertility services for CCR patients.

scholarly journals Discrepancy of Karyotype and CMA /NGS in PGD Patient with Cryptical Complex Chromosomal Rearrangement

2021 ◽  
Author(s):  
TING WANG ◽  
Hanbiao Chen ◽  
Jian Lu ◽  
Weiwei Huang ◽  
Huamei Huang ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Low Cost ◽  
Chromosome Rearrangement ◽  
Genetic Diagnosis ◽  
Structural Rearrangement ◽  
Balanced Translocation ◽  
Chromosome 10 ◽  
Next Generation Sequencing Ngs ◽  
High Repeatability ◽  
Generation Sequencing

Abstract Background: Complex chromosome rearrangement (CCR) is a structural rearrangement involving more than two breakpoints. CCR carriers are at high risk for phenotypic abnormalities or reproductive failure, such as chromosomal abnormalities in fetuses and infertility.Methods: We presented a carriers with chromosome (3,18) apparent balanced translocation diagnosed in eleswhere, whose fetus had duplications in chromosome 3 and deletions in chromosome 10 demonstrated by chromosome microarray analysis(CMA). Results: Through the high resolution of GTG-banding, a cryptical translocation in chromosome 10 was found and the karyotype of the carrier was revised as 46,XY,t(3;10;18) (p26.3;q26.1;q21.1).In the cycle of preimplantation genetic diagnosis (PGD),21 oocytes were retrieved, and 15 were fertilized. At last 7 embryos were biospied and sent to diagnosis by next generation sequencing(NGS).Unfortunately, none of the NGS results from the 7 biopsy embryos were normal. Combining previous literature and our results, we assessed the odds of a balanced embryo in a CCR carrier to be about 9.3%(28/302).The transferable embryo rate was approximately 71.4%(20/28) and healthy live born delivery rate was 55%(11/20).Conclusions: NGS and CMA featured high automation, relatively low cost, high throughput, and high repeatability, which made them commonly used during prenatal diagnosis and PGD. The multiple technology combination can provide more accurate diagnosis and better fertility services for CCR patients.

scholarly journals Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Children ◽  
2021 ◽  
Vol 8 (5) ◽  
pp. 377
Author(s):  
Eun-Woo Park ◽  
Ye-Jee Shim ◽  
Jung-Sook Ha ◽  
Jin-Hong Shin ◽  
Soyoung Lee ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Next Generation Sequencing ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Early Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Next Generation ◽  
Generation Sequencing

Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.

scholarly journals A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1947
Author(s):  
Alessandro Liquori ◽  
Iván Lesende ◽  
Laura Palomo ◽  
Gayane Avetisyan ◽  
Mariam Ibáñez ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Myelodysplastic Syndromes ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Simultaneous Detection ◽  
Genetic Alterations ◽  
Next Generation ◽  
Snp Arrays ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms are clonal disorders that share most of their cytogenetic and molecular alterations. Despite the increased knowledge of the prognostic importance of genetics in these malignancies, next-generation sequencing (NGS) has not been incorporated into clinical practice in a validated manner, and the conventional karyotype remains mandatory in the evaluation of suspected cases. However, non-informative cytogenetics might lead to an inadequate estimation of the prognostic risk. Here, we present a novel targeted NGS-based assay for the simultaneous detection of all the clinically relevant genetic alterations associated with these disorders. We validated this platform in a large cohort of patients by performing a one-to-one comparison with the lesions from karyotype and single-nucleotide polymorphism (SNP) arrays. Our strategy demonstrated an approximately 97% concordance with standard clinical assays, showing sensitivity at least equivalent to that of SNP arrays and higher than that of conventional cytogenetics. In addition, this NGS assay was able to identify both copy-neutral loss of heterozygosity events distributed genome-wide and copy number alterations, as well as somatic mutations within significant driver genes. In summary, we show a novel NGS platform that represents a significant improvement to current strategies in defining diagnosis and risk stratification of patients with MDS and myeloid-related disorders.

scholarly journals The Reproductive Journey in the Genomic Era: From Preconception to Childhood

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1521
Author(s):  
Sandra Garcia-Herrero ◽  
Blanca Simon ◽  
Javier Garcia-Planells
Keyword(s):  
Next Generation Sequencing ◽  
Reproductive Health ◽  
Congenital Anomalies ◽  
Hospital Admissions ◽  
Genetic Diagnosis ◽  
Developed Countries ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

It is estimated that around 10–15% of the population have problems achieving a pregnancy. Assisted reproduction techniques implemented and enforced by personalized genomic medicine have paved the way for millions of infertile patients to become parents. Nevertheless, having a baby is just the first challenge to overcome in the reproductive journey, the most important is to obtain a healthy baby free of any genetic condition that can be prevented. Prevention of congenital anomalies throughout the lifespan of the patient must be a global health priority. Congenital disorders can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later during childhood. It is considered a frequent group of disorders, affecting 3–6% of the population, and one of the leading causes of morbidity and mortality. Congenital anomalies can represent up to 30–50% of infant mortality in developed countries. Genetics plays a substantial role in the pathogenesis of congenital anomalies. This becomes especially important in some ethnic communities or populations where the incidence and levels of consanguinity are higher. The impact of genetic disorders during childhood is high, representing 20–30% of all infant deaths and 11.1% of pediatric hospital admissions. With these data, obtaining a precise genetic diagnosis is one of the main aspects of a preventive medicine approach in developed countries. The field of reproductive health has changed dramatically from traditional non-molecular visual microscope-based techniques (i.e., fluorescence in situ hybridization (FISH) or G-banding karyotype), to the latest molecular high-throughput techniques such as next-generation sequencing (NGS). Genome-wide technologies are applied along the different stages of the reproductive health lifecycle from preconception carrier screening and pre-implantation genetic testing, to prenatal and postnatal testing. The aim of this paper is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.

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