Genomic DNA in human blastocoele fluid

Palini, Simone; Galluzzi, Luca; Stefani, Stefania; Bianchi, Marzia; Wells, Dagan; Magnani, Mauro; Bulletti, Carlo

doi:10.1016/j.rbmo.2013.02.012

Cited by 145 publications

(114 citation statements)

References 19 publications

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“…This implies the possibility of using this method in sex-linked disorders screening. [11,12]. Gianaroli et al used aCGH to evaluate BF biopsies for ploidy prediction in comparison with the conventional biopsy methods, i.e., blastocyst, blastomere, and PB biopsy, and concluded that BF biopsy was comparable to conventional biopsy materials for chromosomal analysis [13].…”

Section: Bf Samplingmentioning

confidence: 99%

Recent advances in preimplantation genetic diagnosis and screening

Huang

et al. 2016

J Assist Reprod Genet

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Preimplantation genetic diagnosis/screening (PGD/PGS) aims to help couples lower the risks of transmitting genetic defects to their offspring, implantation failure, and/or miscarriage during in vitro fertilization (IVF) cycles. However, it is still being debated with regard to the practicality and diagnostic accuracy of PGD/PGS due to the concern of invasive biopsy and the potential mosaicism of embryos. Recently, several non-invasive and high-throughput assays have been developed to help overcome the challenges encountered in the conventional invasive biopsy and low-throughput analysis in PGD/PGS. In this mini-review, we will summarize the recent progresses of these new methods for PGD/PGS and discuss their potential applications in IVF clinics.

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Section: Bf Samplingmentioning

confidence: 99%

Recent advances in preimplantation genetic diagnosis and screening

Huang

et al. 2016

J Assist Reprod Genet

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“…From the analysis of 11 BF samples, we achieved a WGA efficiency of 72.5 %, although the quality and yield were variable based on gel analysis. In four recent studies of BF, the reliability of WGA using PCRbased methods was 60 of 96 (63 %) [20], 39 of 51 (76.5 %) [18], 4 of 5 (80 %) [17], and 95 of 116 (82 %) [19], respectively. We speculate that WGA failure observed in these initial studies was either due to technical problems in retrieving a very small volume (in the order of 1 nL) or that some blastocysts were actually devoid of BF DNA.…”

Section: Discussionmentioning

confidence: 99%

“…The method for aspirating BF was similar to that described in other studies [17,39], with minor modifications. The expanded blastocyst was fixed by a holding pipette, and BF was completely aspirated from the blastocyst with a microneedle, which was inserted into the point of contact between two TE cells (Fig.…”

Section: Bf Collectionmentioning

confidence: 99%

“…One promising source of embryonic DNA is blastocoele fluid which is normally removed prior to embryo vitrification to protect the blastocyst from membrane-damaging ice crystal formation [16]. Blastocoele fluid (BF) has been shown to contain small amounts of DNA which are amplifiable by PCR [17]. Three recent studies comparing BF with polar bodies or TE cells biopsied from the corresponding embryos suggest that BF might be predictive of the embryo ploidy [18][19][20].…”

Section: Introductionmentioning

confidence: 99%

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Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Zhang

Wang

et al. 2016

J Assist Reprod Genet

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Background Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT. Methods Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by highresolution next-generation sequencing (NGS). Results A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %. Conclusion This study provides further evidence that BF is a promising alternative source of DNA for PGT.

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“…The method used in sampling for PGS is invasive. Though a biopsy free method of sampling DNA has been published by Palini et al [10], research in this area are still preliminary [11]. In the early years of PGS, Samples were analyzed using fluorescence in-situ hybridization (FISH).…”

Section: Figurementioning

confidence: 99%

Selecting a Single Embryo for Transfer after In-vitro Fertilization: A Translational Medicine Perspective

Faduola¹

2015

Transl Biomed

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Genomic DNA in human blastocoele fluid

Cited by 145 publications

References 19 publications

Recent advances in preimplantation genetic diagnosis and screening

Recent advances in preimplantation genetic diagnosis and screening

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Selecting a Single Embryo for Transfer after In-vitro Fertilization: A Translational Medicine Perspective

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