Literature DB >> 27272212

Recent advances in preimplantation genetic diagnosis and screening.

Lina Lu1,2, Bo Lv1, Kevin Huang3, Zhigang Xue1, Xianmin Zhu2, Guoping Fan4,5.   

Abstract

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.

Entities:  

Keywords:  Embryo biopsy; In vitro fertilization (IVF); Non-invasive testing; Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS)

Mesh：

Year:  2016        PMID： 27272212      PMCID： PMC5010808          DOI： 10.1007/s10815-016-0750-0

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


  87 in total

1.  Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology.

Authors:  Carles Giménez; Jonás Sarasa; César Arjona; Ester Vilamajó; Olga Martínez-Pasarell; Kenny Wheeler; Gemma Valls; Elena Garcia-Guixé; Dagan Wells
Journal:  Reprod Biomed Online       Date:  2015-09-08       Impact factor: 3.828

2.  Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer.

Authors:  H Telenius; N P Carter; C E Bebb; M Nordenskjöld; B A Ponder; A Tunnacliffe
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

3.  Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes.

Authors:  J A Grifo; Y X Tang; J Cohen; F Gilbert; M K Sanyal; Z Rosenwaks
Journal:  JAMA       Date:  1992-08-12       Impact factor: 56.272

4.  Clinical application of comprehensive chromosomal screening at the blastocyst stage.

Authors:  William B Schoolcraft; Elpida Fragouli; John Stevens; Santiago Munne; Mandy G Katz-Jaffe; Dagan Wells
Journal:  Fertil Steril       Date:  2009-11-25       Impact factor: 7.329

5.  Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances.

Authors:  S Solinas-Toldo; S Lampel; S Stilgenbauer; J Nickolenko; A Benner; H Döhner; T Cremer; P Lichter
Journal:  Genes Chromosomes Cancer       Date:  1997-12       Impact factor: 5.006

6.  Chromosome mosaicism in human embryos.

Authors:  S Munné; H U Weier; J Grifo; J Cohen
Journal:  Biol Reprod       Date:  1994-09       Impact factor: 4.285

7.  Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates.

Authors:  Kyle J Tobler; Paul R Brezina; Andrew T Benner; Luke Du; Xin Xu; William G Kearns
Journal:  J Assist Reprod Genet       Date:  2014-04-26       Impact factor: 3.412

8.  High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.

Authors:  D Pinkel; R Segraves; D Sudar; S Clark; I Poole; D Kowbel; C Collins; W L Kuo; C Chen; Y Zhai; S H Dairkee; B M Ljung; J W Gray; D G Albertson
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

9.  Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing.

Authors:  Yueqiu Tan; Xuyang Yin; Shuoping Zhang; Hui Jiang; Ke Tan; Jian Li; Bo Xiong; Fei Gong; Chunlei Zhang; Xiaoyu Pan; Fang Chen; Shengpei Chen; Chun Gong; Changfu Lu; Keli Luo; Yifan Gu; Xiuqing Zhang; Wei Wang; Xun Xu; Gábor Vajta; Lars Bolund; Huanming Yang; Guangxiu Lu; Yutao Du; Ge Lin
Journal:  Gigascience       Date:  2014-12-04       Impact factor: 6.524

10.  The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts.

Authors:  Veronica Novik; Emily B Moulton; Michael E Sisson; Shagun L Shrestha; Khoa D Tran; Harvey J Stern; Brian D Mariani; Wayne S Stanley
Journal:  Mol Cytogenet       Date:  2014-02-28       Impact factor: 2.009
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  12 in total

1.  Should the flexibility enabled by performing a day-4 embryo transfer remain as a valid option in the IVF laboratory? A systematic review and network meta-analysis.

Authors:  M Simopoulou; K Sfakianoudis; P Tsioulou; A Rapani; E Maziotis; P Giannelou; S Grigoriadis; A Pantou; K Nikolettos; N Vlahos; K Pantos; M Koutsilieris
Journal:  J Assist Reprod Genet       Date:  2019-05-20       Impact factor: 3.412

Review 2.  The current state of sickle cell trait: implications for reproductive and genetic counseling.

Authors:  Lydia H Pecker; Rakhi P Naik
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2018-11-30

Review 3.  The current state of sickle cell trait: implications for reproductive and genetic counseling.

Authors:  Lydia H Pecker; Rakhi P Naik
Journal:  Blood       Date:  2018-11-29       Impact factor: 22.113

4.  The expanding and contracting roles of the genome in regulation of the ovarian reserve.

Authors:  David F Albertini
Journal:  J Assist Reprod Genet       Date:  2016-09       Impact factor: 3.412

5.  Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.

Authors:  Yuqian Wang; Xiaohui Zhu; Zhiqiang Yan; Xu Zhi; Shuo Guan; Ying Kuo; Yanli Nie; Ying Lian; Jin Huang; Yuan Wei; Ping Liu; Rong Li; Jie Qiao; Liying Yan
Journal:  J Assist Reprod Genet       Date:  2020-04-29       Impact factor: 3.412

6.  Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.

Authors:  Jiawei Xu; Zhen Zhang; Wenbin Niu; Qingling Yang; Guidong Yao; Senlin Shi; Haixia Jin; Wenyan Song; Lei Chen; Xiangyang Zhang; Yihong Guo; Yingchun Su; Linli Hu; Jun Zhai; Yile Zhang; Fangli Dong; Yumei Gao; Wenhui Li; Shiping Bo; Mintao Hu; Jun Ren; Lei Huang; Sijia Lu; X Sunney Xie; Yingpu Sun
Journal:  Proc Natl Acad Sci U S A       Date:  2017-09-27       Impact factor: 11.205

7.  End-to-end deep learning for recognition of ploidy status using time-lapse videos.

Authors:  Chun-I Lee; Yan-Ru Su; Chien-Hong Chen; T Arthur Chang; Esther En-Shu Kuo; Wei-Lin Zheng; Wen-Ting Hsieh; Chun-Chia Huang; Maw-Sheng Lee; Mark Liu
Journal:  J Assist Reprod Genet       Date:  2021-05-22       Impact factor: 3.357

8.  De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Authors:  Shuling Wang; Ziru Niu; Hui Wang; Minyue Ma; Wei Zhang; Shu Fang Wang; Jun Wang; Hong Yan; Yifan Liu; Na Duan; Xiandong Zhang; Yuanqing Yao
Journal:  Med Sci Monit       Date:  2017-06-26

9.  Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.

Authors:  Wenbin Niu; Linlin Wang; Jiawei Xu; Ying Li; Hao Shi; Gang Li; Haixia Jin; Wenyan Song; Fang Wang; Yingpu Sun
Journal:  BMC Pregnancy Childbirth       Date:  2020-07-03       Impact factor: 3.007

10.  MicroRNAs secreted by human embryos could be potential biomarkers for clinical outcomes of assisted reproductive technology.

Authors:  Fang Fang; Zili Li; Jiangyu Yu; Yuting Long; Qian Zhao; Xiaofang Ding; Li Wu; Shumin Shao; Ling Zhang; Wenpei Xiang
Journal:  J Adv Res       Date:  2021-01-11       Impact factor: 10.479
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