Validation of next-generation sequencing for comprehensive chromosome screening of embryos.


:Massively parallel genome sequencing, also known as next-generation sequencing (NGS), is the latest approach for preimplantation genetic diagnosis. The purpose of this study was to determine whether NGS can accurately detect aneuploidy in human embryos. Low coverage genome sequencing was applied to trophectoderm biopsies of embryos at the blastocyst stage of development. Sensitivity and specificity of NGS was determined by comparison of results with a previously validated platform, array-comparative genomic hybridization (aCGH). In total, 156 samples (116 were blindly assessed) were tested: 40 samples were re-biopsies of blastocysts where the original biopsy specimen was previously tested for aCGH; four samples were re-biopsies of single blastomeres from embryos previously biopsied at the cleavage stage and tested using aCGH; 18 samples were single cells derived from well-characterized cell lines; 94 samples were whole-genome amplification products from embryo biopsies taken from previous preimplantation genetic screening cycles analysed using aCGH. Per embryo, NGS sensitivity was 100% (no false negatives), and 100% specificity (no false positives). Per chromosome, NGS concordance was 99.20%. With more improvement, NGS will allow the simultaneous diagnosis of single gene disorders and aneuploidy, and may have the potential to provide more detailed insight into other aspects of embryo viability.


Reprod Biomed Online


Kung A,Munné S,Bankowski B,Coates A,Wells D




Has Abstract


2015-12-01 00:00:00














  • IVF staff attitudes towards oocyte donation: a multi-centric study from Iran and Turkey.

    abstract::The aim of this descriptive study was to evaluate the attitudes and knowledge of IVF staff towards oocyte donation (OD) programme. A total of 163 individuals (19% men and 81% women) were requested to fill out a two-part questionnaire. Part 1 of the questionnaire contained general demographic information: 62% of the pa...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,多中心研究


    authors: Khalili MA,Isikoglu M,Tabibnejad N,Ahmadi M,Abed F,Parsanejad ME,Ghasemi M,el Jamal H

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  • mTOR/P70S6K promotes spermatogonia proliferation and spermatogenesis in Sprague Dawley rats.

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    journal_title:Reproductive biomedicine online

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    authors: Xu H,Shen L,Chen X,Ding Y,He J,Zhu J,Wang Y,Liu X

    更新日期:2016-02-01 00:00:00

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    abstract::The aetiology of endometriosis, a gynaecological disease defined by the histological presence of endometrial glands and stroma outside the uterine cavity, is still open to debate. Research has recently found evidence for endometriosis in human female fetuses at different gestational ages. This paper reports a new case...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Signorile PG,Baldi F,Bussani R,D'Armiento M,De Falco M,Boccellino M,Quagliuolo L,Baldi A

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    journal_title:Reproductive biomedicine online

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    authors: Nowoweiski S,Matic H,Foster P

    更新日期:2011-06-01 00:00:00

  • Total fertilization failure and molecular abnormalities in metaphase II oocytes.

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    journal_title:Reproductive biomedicine online

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    authors: Gasca S,Reyftmann L,Pellestor F,Rème T,Assou S,Anahory T,Dechaud H,Klein B,De Vos J,Hamamah S

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Castilla JA,Ruiz de Assín R,Gonzalvo MC,Clavero A,Ramírez JP,Vergara F,Martínez L

    更新日期:2010-01-01 00:00:00

  • Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine β-synthase-mediated homocysteine metabolism.

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    journal_title:Reproductive biomedicine online

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    更新日期:2018-08-01 00:00:00

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    journal_title:Reproductive biomedicine online

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    authors: Hammarberg K,Stafford-Bell M,Everingham S

    更新日期:2015-11-01 00:00:00

  • Subsidized in-vitro fertilization treatment and the effect on the number of egg sharers.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Pennings G,Devroey P

    更新日期:2006-07-01 00:00:00

  • Efficacy of blastocyst transfer after implantation failure.

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    journal_title:Reproductive biomedicine online

    pub_type: 临床试验,杂志文章


    authors: Guerif F,Bidault R,Gasnier O,Couet ML,Gervereau O,Lansac J,Royere D

    更新日期:2004-12-01 00:00:00

  • Stem cells derived from amniotic fluid: new potentials in regenerative medicine.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Cananzi M,Atala A,De Coppi P

    更新日期:2009-01-01 00:00:00

  • Optimal follicle and oocyte numbers for cryopreservation of all embryos in IVF cycles at risk of OHSS.

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    authors: Verwoerd GR,Mathews T,Brinsden PR

    更新日期:2008-09-01 00:00:00

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    abstract::Endometrial receptivity is a prerequisite for blastocyst implantation. During receptivity, the hairy-like epithelial cell microvilli transiently fuse to a single flower-like membrane projection called the 'pinopode'. Scanning electron microscopy in sequential endometrial biopsies shows that pinopodes appear about 1 we...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审


    authors: Nikas G,Aghajanova L

    更新日期:2002-01-01 00:00:00

  • Consultation and treatment behaviour of infertile couples in China: a population-based study.

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    journal_title:Reproductive biomedicine online

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    authors: Zheng D,Zhou Z,Li R,Wu H,Xu S,Kang Y,Cao Y,Chen X,Zhu Y,Xu S,Chen ZJ,Mol BW,Qiao J

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    更新日期:2003-07-01 00:00:00

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    journal_title:Reproductive biomedicine online

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    更新日期:2020-05-01 00:00:00

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    更新日期:2012-02-01 00:00:00

  • Meta-analysis of sperm DNA fragmentation using the sperm chromatin structure assay.

    abstract::Meta-analyses were conducted to investigate the relationship of sperm DNA fragmentation on pregnancy outcome using in-vivo fertilization, IUI, routine IVF and ICSI. Couples with no known infertility problems were 7.0 times (CI 3.17, 17.7) more likely to achieve a pregnancy/delivery if the DNA fragmentation index (DFI)...

    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,meta分析


    authors: Evenson D,Wixon R

    更新日期:2006-04-01 00:00:00

  • Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients.

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    journal_title:Reproductive biomedicine online

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    authors: Verlinsky Y,Tur-Kaspa I,Cieslak J,Bernal A,Morris R,Taranissi M,Kaplan B,Kuliev A

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  • Early versus delayed follow-up after misoprostol treatment for early pregnancy loss.

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    authors: Troude P,Santin G,Guibert J,Bouyer J,de La Rochebrochard E,DAIFI Group.

    更新日期:2016-11-01 00:00:00

  • Osteopontin and alphavbeta3 integrin expression in the endometrium of infertile and fertile women.

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    journal_title:Reproductive biomedicine online

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    更新日期:2017-07-01 00:00:00

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    journal_title:Reproductive biomedicine online

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    authors: Walters E

    更新日期:2013-11-01 00:00:00

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Coulam CB,Jeyendran RS,Fishel LA,Roussev R

    更新日期:2006-03-01 00:00:00

  • Family-based analysis of GGT1 and HNF1A gene polymorphisms in patients with polycystic ovary syndrome.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Xu X,Qin L,Tian Y,Wang M,Li G,Du Y,Chen ZJ,Li W

    更新日期:2018-01-01 00:00:00

  • Uterine sperm-egg transfer: a cost-effective alternative to IVF in anovulatory women.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Ahuja KK,Andonov M,Linara E,Simons E

    更新日期:2010-06-01 00:00:00

  • High-magnification selection of spermatozoa prior to oocyte injection: confirmed and potential indications.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章,评审


    authors: Boitrelle F,Guthauser B,Alter L,Bailly M,Bergere M,Wainer R,Vialard F,Albert M,Selva J

    更新日期:2014-01-01 00:00:00

  • Utility of age-specific serum anti-Müllerian hormone concentrations.

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    journal_title:Reproductive biomedicine online

    pub_type: 杂志文章


    authors: Barad DH,Weghofer A,Gleicher N

    更新日期:2011-03-01 00:00:00