Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA

Wu, Hai‐Tao; Ding, Chenhui; Shen, Xiaoting; Wang, Jing; Li, Rong; Cai, Bing; Xu, Yanwen; Zhong, Yiping; Zhou, Canquan

doi:10.1097/md.0000000000000669

Cited by 55 publications

(53 citation statements)

References 30 publications

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“…Notably, the development of a noninvasive medium-based PGD test for α-thalassemias-SEA was recently published by Wu et al . [18], corroborating the potential for noninvasive approaches.…”

Section: Discussionmentioning

confidence: 64%

“…However, future studies with higher number of samples, the use of molecular methods with lower detection limits (e.g., digital PCR) or the evaluation of different target sequences coupled with linked markers may provide improvement in detection rates, making the extracellular matrices acceptable for PGD applications, therefore avoiding invasive procedures on the embryo. This perspective could be realistic as evidenced by a recently published work focusing on α-thalassemia [18]. Moreover, noninvasive PGD and/or embryo sexing should also be useful in the breeding and dairy industry, allowing fast selection of the preferred animal embryos.…”

Section: Future Perspectivementioning

confidence: 99%

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Extracellular embryo genomic DNA and its potential for genotyping applications

et al. 2015

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Background:Preimplantation genetic diagnosis (PGD) currently relies on biopsy of one or few embryo cells. Our aim was to evaluate the embryo extracellular matrices (spent medium and blastocoele fluid) as source of DNA for embryo genotyping.Results/methodology:We first evaluated the amplifiability and the amount of genomic DNA in spent embryo culture media from day 3 (n = 32) and day 5/6 (n = 54). Secondly, we evaluated the possibility to genotype the MTHFR polymorphism C677T from media at day 5/6 (n = 8) and blastocoele fluids (n = 9) by direct sequencing. The C677T polymorphism detection rate was 62.5 and 44.4% in medium and fluid, respectively.Conclusion:A noninvasive approach for embryo genotyping was possible, but still with limitations due to low detection rate and possible allele dropout.

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“…Notably, the development of a noninvasive medium-based PGD test for α-thalassemias-SEA was recently published by Wu et al . [18], corroborating the potential for noninvasive approaches.…”

Section: Discussionmentioning

confidence: 64%

Section: Future Perspectivementioning

confidence: 99%

Extracellular embryo genomic DNA and its potential for genotyping applications

et al. 2015

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“…Similarly, DNA isolated from media culturing α-thalassemias -SEA carrier embryos had significantly higher diagnosis efficiency compared to blastomere biopsy [16]. However, this method still needs to be further validated by eliminating potential contamination and providing more robust evidences in PGD/PGS.…”

Section: Bf Samplingmentioning

confidence: 96%

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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“…Palini et al (23) reported the observation of the existence of DNA in the blastocoele fluid, Gianaroli et al (24) performed a pilot study on chromosome screening using blastocentesis, and Stigliani et al (25,26) observed genomic and mitochondria DNA contents in the culture medium, which were correlated with embryo quality. Wu et al (27) reported the PCR detection of the secreted genomic DNA in the culture medium for preimplantation…”

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.

204

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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Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA

Cited by 55 publications

References 30 publications

Extracellular embryo genomic DNA and its potential for genotyping applications

Extracellular embryo genomic DNA and its potential for genotyping applications

Recent advances in preimplantation genetic diagnosis and screening

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

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