Recent advances in preimplantation genetic diagnosis and screening

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.

[1]  Kay Elder,et al.  Defining the three cell lineages of the human blastocyst by single-cell RNA-seq , 2015, Development.

[2]  W. Kuo,et al.  High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays , 1998, Nature Genetics.

[3]  A. H. Handyside,et al.  Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification , 1990, Nature.

[4]  D. Griffin,et al.  Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. , 2014, Reproductive biomedicine online.

[5]  Deanne M. Taylor,et al.  Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. , 2013, Fertility and sterility.

[6]  S. Kingsmore,et al.  Comprehensive human genome amplification using multiple displacement amplification , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[7]  M. Meseguer,et al.  The use of morphokinetics as a predictor of embryo implantation. , 2011, Human reproduction.

[8]  Elpida Fragouli,et al.  Clinical application of comprehensive chromosomal screening at the blastocyst stage. , 2010, Fertility and sterility.

[9]  S. Dhanjal,et al.  Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study , 2013, European Journal of Human Genetics.

[10]  L. Rienzi,et al.  PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. , 2011, Human reproduction.

[11]  N. Treff,et al.  Four-hour quantitative real-time polymerase chain reaction-based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficacy. , 2013, Fertility and sterility.

[12]  E. Moshier,et al.  Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages , 2013, Journal of Assisted Reproduction and Genetics.

[13]  L. Gianaroli,et al.  Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study. , 2014, Fertility and sterility.

[14]  Z. Rosenwaks,et al.  Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes. , 1992, JAMA.

[15]  Huanming Yang,et al.  Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing , 2014, GigaScience.

[16]  D. Wells,et al.  Morphological and cytogenetic assessment of cleavage and blastocyst stage embryos. , 2014, Molecular human reproduction.

[17]  Rong Li,et al.  Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses , 2015, Proceedings of the National Academy of Sciences.

[18]  V. Novik,et al.  The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts , 2014, Molecular Cytogenetics.

[19]  A. Farcomeni,et al.  No evidence of association between blastocyst aneuploidy and morphokinetic assessment in a selected population of poor-prognosis patients: a longitudinal cohort study. , 2015, Reproductive biomedicine online.

[20]  Canquan Zhou,et al.  Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA , 2015, Medicine.

[21]  Sijia Lu,et al.  Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications. , 2015, Annual review of genomics and human genetics.

[22]  R. Hubert,et al.  Whole genome amplification from a single cell: implications for genetic analysis. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[23]  J. Cohen,et al.  First pregnancies after preconception diagnosis of translocations of maternal origin. , 1998, Fertility and sterility.

[24]  L. Rienzi,et al.  FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage. , 2013, Human reproduction.

[25]  Celina Cybulska,et al.  Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report , 2015, American Journal of Perinatology Reports.

[26]  Catalin C. Barbacioru,et al.  mRNA-Seq whole-transcriptome analysis of a single cell , 2009, Nature Methods.

[27]  H. Döhner,et al.  Matrix‐based comparative genomic hybridization: Biochips to screen for genomic imbalances , 1997, Genes, chromosomes & cancer.

[28]  P. Brezina,et al.  The evolving role of genetics in reproductive medicine. , 2014, Obstetrics and gynecology clinics of North America.

[29]  J. Harper,et al.  Comprar Preimplantation Genetic Diagnosis 2Ed | Alan H. Handyside | 9780521884716 | Cambridge University Press , 2009 .

[30]  F. Kokocinski,et al.  Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. , 2014, Fertility and sterility.

[31]  S. Horvath,et al.  Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing , 2013, Nature.

[32]  D. Griffin,et al.  Karyomapping—a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome , 2015, Journal of Assisted Reproduction and Genetics.

[33]  L. Rienzi,et al.  Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development. , 2013, Human reproduction.

[34]  M. Bianchi,et al.  Genomic DNA in human blastocoele fluid. , 2013, Reproductive biomedicine online.

[35]  C. Moutou,et al.  ESHRE PGD consortium best practice guidelines for amplification-based PGD. , 2011, Human reproduction.

[36]  Matthew Meyerson,et al.  Calibrating genomic and allelic coverage bias in single-cell sequencing , 2015, Nature Communications.

[37]  F. Fiorentino,et al.  Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. , 2010, Fertility and sterility.

[38]  S. Rechitsky,et al.  Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. , 2011, Fertility and sterility.

[39]  Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos , 2015, Molecular Cytogenetics.

[40]  P. Brezina,et al.  Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates , 2014, Journal of Assisted Reproduction and Genetics.

[41]  Jie Qiao,et al.  Dynamic transcriptional symmetry-breaking in pre-implantation mammalian embryo development revealed by single-cell RNA-seq , 2015, Development.

[42]  N. Treff,et al.  Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses , 2010, Molecular human reproduction.

[43]  Ruiqiang Li,et al.  Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells , 2013, Nature Structural &Molecular Biology.

[44]  D. Griffin,et al.  Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. , 1991, Human reproduction.

[45]  L. Armengol,et al.  Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers , 2014, PloS one.

[46]  J. Lemmen,et al.  Kinetic markers of human embryo quality using time-lapse recordings of IVF/ICSI-fertilized oocytes. , 2008, Reproductive biomedicine online.

[47]  S. Pickering,et al.  Genetic diagnosis using polymerase chain reaction and fluorescent in-situ hybridization analysis of biopsied cells from both the cleavage and blastocyst stages of individual cultured human preimplantation embryos. , 1995, Human reproduction.

[48]  C. Venetis,et al.  Morphokinetic parameters using time-lapse technology and day 5 embryo quality: a prospective cohort study , 2015, Journal of Assisted Reproduction and Genetics.

[49]  J. Harper,et al.  Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions , 1998, Human Genetics.

[50]  P. Brezina,et al.  Clinical applications of preimplantation genetic testing , 2015, BMJ : British Medical Journal.

[51]  B. Levy,et al.  Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. , 2011, Fertility and sterility.

[52]  N. Carter,et al.  Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. , 1992, Genomics.

[53]  Rong Li,et al.  Genome Analyses of Single Human Oocytes , 2013, Cell.

[54]  X. Xie,et al.  Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell , 2012, Science.

[55]  L. Morrison,et al.  Spontaneous Abortions Are Reduced After Preconception Diagnosis of Translocations , 1998, Journal of Assisted Reproduction and Genetics.

[56]  J. Harper,et al.  Preimplantation genetic diagnosis , 2000, Current opinion in obstetrics & gynecology.

[57]  Z. Rosenwaks,et al.  Diagnosis of major chromosome aneuploidies in human preimplantation embryos. , 1993, Human reproduction.

[58]  P. Quirke,et al.  Fluorescent PCR: A new technique for PGD of sex and single-gene defects , 1996, Journal of Assisted Reproduction and Genetics.

[59]  J. Swain.  Could time-lapse embryo imaging reduce the need for biopsy and PGS? , 2013, Journal of Assisted Reproduction and Genetics.

[60]  A. Hellani,et al.  Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. , 2008, Reproductive biomedicine online.

[61]  D. Ward,et al.  Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. , 1992, Archives of Pathology & Laboratory Medicine.

[62]  L. Shulman.  Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy—the future of IVF? , 2010 .

[63]  H U Weier,et al.  Chromosome mosaicism in human embryos. , 1994, Biology of reproduction.

[64]  Jie Qiao,et al.  Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing , 2012, Science.

[65]  I. D. de Coo,et al.  Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success , 2013, Journal of Medical Genetics.

[66]  D. Wells,et al.  Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. , 2011, Human reproduction.

[67]  D. Griffin,et al.  Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes , 2009, Journal of Medical Genetics.

[68]  J. García-Velasco,et al.  Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials. , 2015, Reproductive biomedicine online.

[69]  J. Simpson.  Preimplantation genetic diagnosis at 20 years , 2010, Prenatal diagnosis.

[70]  M. Hughes,et al.  Live birth following serial vitrification of embryos and PGD for fragile X syndrome in a patient with the premutation and decreased ovarian reserve , 2013, Journal of Assisted Reproduction and Genetics.

[71]  X. Xie,et al.  Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos. , 2014, Fertility and sterility.

[72]  Deanne M. Taylor,et al.  Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. , 2012, Fertility and sterility.

[73]  B. Levy,et al.  Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. , 2011, Fertility and sterility.

[74]  S. Assou,et al.  Non-invasive pre-implantation genetic diagnosis of X-linked disorders. , 2014, Medical hypotheses.

[75]  Siddharth S. Dey,et al.  Integrated genome and transcriptome sequencing from the same cell , 2014, Nature Biotechnology.

[76]  Yulian Zhao,et al.  Blastocoel fluid from differentiated blastocysts harbors embryonic genomic material capable of a whole-genome deoxyribonucleic acid amplification and comprehensive chromosome microarray analysis. , 2015, Fertility and sterility.

[77]  A. Hellani,et al.  Morphokinetic analysis of cleavage stage embryos and its relationship to aneuploidy in a retrospective time-lapse imaging study , 2014, Journal of Assisted Reproduction and Genetics.

[78]  J. Garcia-Bernardo,et al.  Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy-the future of IVF? , 2010, Fertility and sterility.

[79]  L. Rienzi,et al.  A cautionary note against embryo aneuploidy risk assessment using time-lapse imaging. , 2014, Reproductive biomedicine online.

[80]  J. Tesarik,et al.  Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst , 2015, SpringerPlus.

[81]  C. Ponting,et al.  G&T-seq: parallel sequencing of single-cell genomes and transcriptomes , 2015, Nature Methods.

[82]  N. Treff,et al.  Comprehensive chromosome screening alters traditional morphology-based embryo selection: a prospective study of 100 consecutive cycles of planned fresh euploid blastocyst transfer. , 2013, Fertility and sterility.

[83]  F. Kokocinski,et al.  Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. , 2014, Human reproduction.

[84]  D. Wells,et al.  Live births following Karyomapping of human blastocysts: experience from clinical application of the method. , 2015, Reproductive biomedicine online.

[85]  Ying-pu Sun,et al.  Increased IVF pregnancy rates after microarray preimplantation genetic diagnosis due to parental translocations , 2014, Systems biology in reproductive medicine.

[86]  W. Kuczyński,et al.  Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles. , 2015, Fertility and sterility.

[87]  D. Wells,et al.  First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. , 2011, Human reproduction.

[88]  C. Giménez,et al.  Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. , 2015, Reproductive biomedicine online.