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

Yan, Liying; Huang, Lei; Xu, Liya; Huang, Jin; Ma, Fei; Zhu, Xiaohui; Tang, Y. Tom; Liu, Mingshan; Lian, Ying; Liu, Ping; Li, Rong; Lü, Sijia; Tang, Fuchou; Qiao, Jie; Xie, X. Sunney

doi:10.1073/pnas.1523297113

Cited by 116 publications

(114 citation statements)

References 32 publications

(45 reference statements)

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“…This study also demonstrated an 82% (27/33) pregnancy rate [109]. analysis [110]. Furthermore, the study demonstrated that by using this method two viable and healthy live births were achieved [110].…”

Section: Simultaneous Detection Of Monogenic Disorders and Chromosomesupporting

confidence: 63%

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Karyomapping and how is it improving preimplantation genetics?

Gould

Griffin

2017

Expert Review of Molecular Diagnostics

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Introduction: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different.Areas Covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review.Expert Commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.

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Section: Simultaneous Detection Of Monogenic Disorders and Chromosomesupporting

confidence: 63%

“…analysis [110]. Furthermore, the study demonstrated that by using this method two viable and healthy live births were achieved [110].…”

Section: Simultaneous Detection Of Monogenic Disorders and Chromosomementioning

confidence: 78%

Karyomapping and how is it improving preimplantation genetics?

Gould

Griffin

2017

Expert Review of Molecular Diagnostics

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“…Features of NGS thereby can be used to analyse both multiple single gene disorders and chromosomal abnormalities at the same time, using a single platform [135,136,137]. In addition, the feasibility to perform WGS/NGS from a single cell [138] makes such approach very attractive in the field of PGD.…”

Section: Inherited Cancer Syndromesmentioning

confidence: 99%

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Kamps

Brandão

Bosch

et al. 2017

IJMS

370

272

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Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.

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“…1). The MALBAC-NGS protocol has been previously validated in performing PGS with cleavage-stage and blastocyst-stage biopsies (29)(30)(31), and is increasingly used for single-gene PGD combined with chromosomal PGS (30,32). Similarly, we performed MALBAC-NGS on all 24 chromosomes from the corresponding D5 whole embryos, which we used as the gold standard to evaluate the chromosome screening results from the culture media.…”

Section: Significancementioning

confidence: 99%

Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

Fang

Chen

et al. 2016

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

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192

215

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Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst. By using multiple annealing and looping-based amplification cycles (MALBAC) for whole-genome amplification (WGA), we performed next-generation sequencing (NGS) on the spent culture medium used to culture human blastocysts (n = 42) and obtained the ploidy information of all 24 chromosomes. We validated these results by comparing each with their corresponding whole donated embryo and obtained a high correlation for identification of chromosomal abnormalities (sensitivity, 0.882, and specificity, 0.840). With this validated NICS method, we performed chromosome screening on IVF embryos from seven couples with balanced translocation, azoospermia, or recurrent pregnancy loss. Six of them achieved successful clinical pregnancies, and five have already achieved healthy live births thus far. The NICS method avoids the need for embryo biopsy and therefore substantially increases the safety of its use. The method has the potential of much wider chromosome screening applicability in clinical IVF, due to its high accuracy and noninvasiveness.

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

Cited by 116 publications

References 32 publications

Karyomapping and how is it improving preimplantation genetics?

Karyomapping and how is it improving preimplantation genetics?

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

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