Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates

Tobler, K.J.; Brezina, Paul R.; Benner, A.T.; Du, Luke; Xu, Xin; Kearns, W.G.

doi:10.1007/s10815-014-0230-3

Cited by 41 publications

(30 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The bead chips were dried in a desiccator and scanned using an Illumina iScan Bead Array Reader. Raw data analysis was accomplished using Illumina Genome Studio software (10).…”

Section: Methodsmentioning

confidence: 99%

Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos

Huang

Yan

Fan

et al. 2014

Fertility and Sterility

View full text Add to dashboard Cite

“…The bead chips were dried in a desiccator and scanned using an Illumina iScan Bead Array Reader. Raw data analysis was accomplished using Illumina Genome Studio software (10).…”

Section: Methodsmentioning

confidence: 99%

Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos

Huang

Yan

Fan

et al. 2014

Fertility and Sterility

View full text Add to dashboard Cite

“…Previous PGD techniques include FISH to detect chromosome abnormalities (3) and Sanger sequencing after PCR to detect specific point mutations (4), but the two types of abnormality could not be detected at the same time. Genome-wide aneuploidy screening, such as comparative genomic hybridization (CGH) array (5,6), SNP array (7), multiplex quantitative PCR (8), and next-generation sequencing (NGS), have been used to select embryos free of aneuploidy and are increasingly applied in the PGS field (5,9). NGS offers many advantages, including reduced costs, increased precision, and higher base resolution (9)(10)(11).…”

mentioning

confidence: 99%

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses

Yan

Huang

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

120

114

View full text Add to dashboard Cite

In vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), and preimplantation genetic screening (PGS) help patients to select embryos free of monogenic diseases and aneuploidy (chromosome abnormality). Next-generation sequencing (NGS) methods, while experiencing a rapid cost reduction, have improved the precision of PGD/PGS. However, the precision of PGD has been limited by the false-positive and false-negative single-nucleotide variations (SNVs), which are not acceptable in IVF and can be circumvented by linkage analyses, such as short tandem repeats or karyomapping. It is noteworthy that existing methods of detecting SNV/copy number variation (CNV) and linkage analysis often require separate procedures for the same embryo. Here we report an NGS-based PGD/PGS procedure that can simultaneously detect a single-gene disorder and aneuploidy and is capable of linkage analysis in a cost-effective way. This method, called “mutated allele revealed by sequencing with aneuploidy and linkage analyses” (MARSALA), involves multiple annealing and looping-based amplification cycles (MALBAC) for single-cell whole-genome amplification. Aneuploidy is determined by CNVs, whereas SNVs associated with the monogenic diseases are detected by PCR amplification of the MALBAC product. The false-positive and -negative SNVs are avoided by an NGS-based linkage analysis. Two healthy babies, free of the monogenic diseases of their parents, were born after such embryo selection. The monogenic diseases originated from a single base mutation on the autosome and the X-chromosome of the disease-carrying father and mother, respectively.

show abstract

“…Only G-banding and FISH were done, and both showed no deletion in chromosome 22q11.2. approaches such as FISH and karyotyping [Qi et al, 2013;Vallespín et al, 2013;Tobler et al, 2014;Wilson and Nicholls, 2015]. These limitations include difficulties in detecting very small microdeletions and SNPs [Wilton, 2005] when using FISH.…”

Section: Discussionmentioning

confidence: 99%

Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population

Bahamat

Assidi

Lary³

et al. 2018

Cytogenet Genome Res

View full text Add to dashboard Cite

DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed. The aim of this study is to implement and use aCGH technology in clinical diagnosis of the 22q11.2 deletion in Saudi Arabian DGS patients and to confirm its effectiveness compared to conventional FISH and chromosome banding techniques. Thirty suspected DGS patients were assessed for chromosome 22q11.2 deletion using high-resolution G-banding, FISH, and aCGH. The aCGH results were compared with those obtained by the other 2 cytogenetic techniques. G-banding detected the 22q11.2 deletion in only 1 patient in the cohort. Moreover, it detected additional chromosomal aberrations in 3 other patients. Using FISH, allowed for detection of the 22q11.2 deletion in 2 out of 30 patients. Interestingly, the use of aCGH technique showed deletions in the chromosome 22q11.2 region in 8 patients, indicating a 4-fold increase in diagnostic detection capacity compared to FISH. Our results show the effectiveness of aCGH to overcome the limitations of FISH and G-banding in terms of diagnostic yield and allow whole genome screening and detection of a larger number of deletions and/or duplications in Saudi Arabian DGS patients. Except for balanced translocations and inversions, our data demonstrate the suitability of aCGH in the diagnostics of submicroscopic deletion syndromes such as DGS and most chromosomal aberrations or complex abnormalities scattered throughout the human genome. Our results recommend the implementation of aCGH in clinical genomic testing in Saudi Arabia to improve the diagnostic capabilities of health services while maintaining the use of conventional cytogenetic techniques for subsequent validation or for specific and known aberrations whenever required.

show abstract

Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates

Abstract: SNP or aCGH microarray technologies demonstrate equivalent clinical findings that maximize the pregnancy potential in patients with known parental reciprocal chromosomal translocations.

Cited by 41 publications

References 35 publications

Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos

Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses

Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population

Contact Info

Product

Resources

About