Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening

Hellani, Ali; Abu-Amero, Khaled K; Azouri, Joseph; El-Akoum, Siham

doi:10.1016/s1472-6483(10)60413-0

Cited by 114 publications

(87 citation statements)

References 32 publications

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“…There are various PGS methods for comprehensive chromosome screening currently in clinical use, including comparative genomic hybridization (array-CGH) (4,5), single-nucleotide polymorphism (SNP) arrays (6-9), multiplex quantitative PCR (10), and next-generation sequencing (NGS) (11,12). Multiple clinical trials have confirmed the clinical efficacy of PGS, including increasing implantation and clinical pregnancy rates, as well as decreasing miscarriage rates (13)(14)(15)(16).…”

mentioning

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.

199

218

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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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mentioning

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.

199

218

View full text Add to dashboard Cite

show abstract

“…It has been proposed to investigate whether PGS does work if embryos are sampled at a slightly earlier or later stage (polar body and/or trophectoderm biopsy), but also to perform analyses using the broader testing options offered by array CGH. This is already being done in some clinics 84 and a multicentre trial has been set up by the European Society for Human Reproduction and Embryology (ESHRE) to determine the value of PGS based on polar-body biopsy and analysis with array CGH. 81 Using microarray PGS, targeted testing of chromosome regions and genes important to implantation and the odds of pregnancy can be performed.…”

Section: Pre-implantation Genetic Screeningmentioning

confidence: 99%

The ‘thousand-dollar genome’: an ethical exploration

Dondorp

Wert

2013

Eur J Hum Genet

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“…The PicoPlex ® library kit for WGA is a PCR-based technique that requires the fragmentation of large genomic DNA prior to the construction of a PCR-amplifiable library. Both MDA and PicoPlex ® methods for single-cell WGA have been used in array-based preimplantation testing (Hellani et al, 2008;Johnson et al, 2010; see Section 3.1).…”

Section: Techniques For Single-cell Whole-genome Amplificationmentioning

confidence: 99%