Recent advances in preimplantation genetic diagnosis and screening

Lu, Liping; Lv, Bo; Huang, Kevin; Xue, Zhigang; Zhu, Xianmin; Fan, Guoping

doi:10.1007/s10815-016-0750-0

Cited by 43 publications

(31 citation statements)

References 90 publications

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“…Similar to blastocoel fluid, embryo culture medium was suggested to harbour DNA that can be used for further analysis (Palini et al, 2013;Scaruffi et al, 2011). Therefore, the possibility of non-invasive preimplantation genetic screening (PGS) was discussed as a potential future technique for embryo assessment (Cohen et al, 2013;Hammond et al, 2016;Lu et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study

Feichtinger

Vaccari

Carli

et al. 2017

Reproductive BioMedicine Online

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The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed. Thirteen out of 18 samples (72.2%) revealed general concordance of ploidy status (euploid or aneuploid). At least one chromosomal aberration was found concordant in 10 out of 15 embryos found to be aneuploid by both polar body and culture media analysis. Overall, 17 out of 35 (48.6%) single chromosomal aneuploidies were concordant between the culture media and polar body analysis. By analysing negative controls (oocytes with fertilization failure), notable maternal contamination was observed. Therefore, non-invasive PGS could serve as a second matrix after polar body or cleavage stage PGS; however, in euploid results, maternal contamination needs to be considered and results interpreted with caution.

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Section: Introductionmentioning

confidence: 99%

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study

Feichtinger

Vaccari

Carli

et al. 2017

Reproductive BioMedicine Online

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“…In Spain, where the number of PGD/PGS cycles has tripled between 2010 and 2016, more than 80% of these cycles were referred to PGS (SEF, 2010;SEF, 2016). Furthermore, biopsies extracted for PGS will increasingly be used also for PGD, which will enable detecting a wider variety of disorders; multifactorial, of later-onset, lower level of penetrance and even less severe expressions, providing higher accuracy and success rates (Lu et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

“…Biopsies can also be used for PGS, a global quantitative analysis of the entire genome which serves to detect and transfer only euploid embryos (i.e., without chromosomal structure anomalies). This procedure assumes that an euploid embryo has better chances to develop into a fetus and a healthy baby (Lu et al, 2016;Casper et al, 2017). PGD cycles represent a minor share of all IVF cycles, while PGS is more commonly used and mainly offered to patients of advanced age whose eggs tend to have higher levels of aneuploidy.…”

Section: Technical Factorsmentioning

confidence: 99%

Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Alón¹,

Guimón²,

Urbanos-Garrido³

2019

Preprint

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This paper questions the potential shift of reproduction towards assisted reproductive technologies due to benefits provided by genetic manipulation of embryos. In order to examine the viability of such a shift and its implications from a regulatory perspective, we relied on two panels of experts from Israel and Spain, using the Delphi method and a series of in-depth interviews. We anticipate, at a first stage, a continuous-steady growth in the use of IVF, supplemented by preimplantation genetic diagnosis and the introduction of CRISPR/Cas. At a second stage, attracting a growing share of fertile people would require developments in genomics. While it is unclear whether these developments will fully materialize, they could be replaced by technoscientific imaginaries generating perceived benefits. We conclude that the regulation of reproductive genetics is becoming more critical and complex. The aim should be to ensure good practices and equity, while providing more information to the public. A broad and inclusive societal debate may overcome the difficulty of drawing a clear line between medical uses and non-medical uses of genetic selection and engineering and may contribute to finding the right balance between allowing autonomous decisions of patients and protecting the public interest.

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“…Studies within other settings have found that it is possible to obtain BF-DNA, using RT-PCR to analyze several targeted genes (GADPH, TSPY1, and TBC1D3) A whole-genome microarray was also attempted on five amplified DNA products obtained from the BF, but found a karyotype in only two samples [10]. Polisseni et al reported on the use of DNA fingerprinting for eight chromosomes from 11 paired BF-DNA samples separated from whole embryo DNA [11].…”

Section: Discussionmentioning

confidence: 99%

Detection and analysis of DNA material in human blastocoel fluid

Shangguan¹,

He²,

Li³

et al. 2017

Biomed Genet Genomics

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Preimplantation genetic diagnosis (PGD) is becoming a widely-accepted technique during in vitro fertilization (IVF). However, a disadvantage of PGD is the invasive biopsy methods used to sample embryonic cells or polar bodies. Recent studies have found that genetic material can be detected in blastocoel fluid (BF) and culture medium. In our study, BF and trophectoderm (TE) cells were simultaneously collected from the same donated human blastula. To generate enough DNA for analysis, we used multiple displacement amplification (MDA) based whole genome amplification (WGA). MDA-WGA samples were probed with primers designed to identify spinal muscular atrophy (SMA) and phenylpropionate ketoneuria (PKU), plus the Y chromosome sex-determining region (SRY). This demonstrated that DNA fragments were present in each of the TE and BF samples (7/7). The positive PCR amplification rates for SMA, PKU, SRY and β-actin in BF were 42.9% (3/7), 60% (3/5), 42.9% (3/7) and 71.4% (5/7) respectively, but the positive rate of amplification with TE samples was 100% (7/7), 100% (7/7), 71.43% (5/7) and 100% (7/7). After sequencing, identical alleles were found in matched BF and TE samples. In summary, BF-DNA could be detected using MDA-WGA and PCR, and sequences in PCR positive samples were identical in matched BF-DNA and TE samples.

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Recent advances in preimplantation genetic diagnosis and screening

Cited by 43 publications

References 90 publications

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study

Contesting the Geneticization Thesis in Human Reproduction: Dealing with Spiral Shaped Processes and Technoscientific Imaginaries

Detection and analysis of DNA material in human blastocoel fluid

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