24-chromosome PCR for aneuploidy screening

Current Opinion in Obstetrics and Gynecology

Volumn 27, Issue 3, 2015, Pages 201-205

  Werner, Marie D ^a   Scott, Richard T ^a,b   Treff, Nathan R ^a,b  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

comprehensive chromosome screening; next generation sequencing; quantitative real time PCR; whole genome amplification

Indexed keywords

ANEUPLOIDY; CELL LINE; CHROMOSOME; EMBRYO; GENETIC SCREENING; HEALTH CARE UTILIZATION; HUMAN; MEDICAL TECHNOLOGY; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; VALIDATION STUDY; BLASTOCYST; CYTOLOGY; DNA SEQUENCE; EMBRYO CULTURE; EMBRYO TRANSFER; FEMALE; HIGH THROUGHPUT SEQUENCING; NIDATION; NUCLEIC ACID AMPLIFICATION; PHYSIOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; TRENDS;

ANEUPLOIDY; BLASTOCYST; EMBRYO CULTURE TECHNIQUES; EMBRYO IMPLANTATION; EMBRYO TRANSFER; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; PREIMPLANTATION DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 84929462714     PISSN: 1040872X     EISSN: 1473656X     Source Type: Journal    
DOI: 10.1097/GCO.0000000000000167     Document Type: Review

References (27)

1. Forman EJ, Hong KH, Ferry KM, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril 2013; 100:100-107.
2. Scott RT, Ferry K, Su J, et al. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 2012; 97:870-875.
3. Schoolcraft WB, Surrey E, Minjarez D, et al. Transfer of warmed euploid blastocysts significantly improves live birth rates for infertility patients of advanced maternal age (35 YEARS): a randomized control trial. Fertil Steril 2013; 100:S95.
4. Yang Z, Liu J, Collins GS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012; 5:24.
5. Treff NR, Scott RT. Methods for comprehensive chromosome screening of oocytes and embryos: capabilities, limitations, and evidence of validity. J Assist Reprod Genet 2012; 29:381-390.
6. Fiegler H, Geigl JB, Langer S, et al. High resolution array-CGH analysis of single cells. Nucleic Acids Res 2007; 35:e15.
7. Dean FB, Hosono S, Fang L, et al. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 2002; 99:5261-5266.
8. Treff NR, Su J, Tao X, et al. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril 2010; 94:2017-2021.
9. Treff NR, Scott RT. Four-hour quantitative real-time polymerase chain reaction-based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficacy. Fertil Steril 2013; 99:1049-1053.
10. Handyside AH, Lesko JG, Taŕn JJ, et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992; 327:905-909.
11. Treff NR, Tao X, Ferry KM, et al. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil Steril 2012; 97:819-824.
12. Wells D, Kaur K, Grifo J, et al. Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J Med Genet 2014; 51:553-562.
13. Treff NR, Tao X, Taylor D, et al. Development and validation of a nextgeneration sequencing (NGS)-based 24-chromosome aneuploidy screening system. Fertil Steril 2013; 100:S82.
14. Scott RT, Upham KM, Forman EJ, 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. Fertil Steril 2013; 100:697-703.
15. Johnson DS, Gemelos G, Baner J, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod Oxf Engl 2010; 25:1066-1075.
16. Geraedts J, Montag M, Magli MC, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod Oxf Engl 2011; 26:3173-3180.
17. Wells D, Escudero T, Levy B, et al. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2002; 78:543-549.
18. Fiorentino F, Bono S, Biricik A, et al. Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod Oxf Engl 2014; 29:2802-2813.
19. Handyside AH, Harton GL, Mariani B, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010; 47:651-658.
20. Tao X, Jalas C, Fedick A, et al. Rapid and concurrent comprehensive chromosome screening (CCS) and single gene disorder (SGD) PGD. Fertil Steril 2014; 102:e183.
21. Treff NR, Fedick A, Tao X, et al. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril 2013; 99:1377-1384.
22. Taylor TH, Gitlin SA, Patrick JL, et al. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update 2014; 20:571-581.
23. Mertzanidou A, Wilton L, Cheng J, et al. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod Oxf Engl 2013; 28:256-264.
24. Capalbo A, Treff NR, Cimadomo D, et al. Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies. Eur J Hum Genet EJHG 2014. [Epub ahead of print]
25. Mastenbroek S, Twisk M, van der Veen F, Repping S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011; 17:454-466.
26. Hong KH, Lee H, Forman EJ, et al. Examining the temperature of embryo culture in in vitro fertilization: a randomized controlled trial comparing traditional core temperature (378C) to a more physiologic, cooler temperature (368C). Fertil Steril 2014; 102:767-773.
27. Werner MD, Leondires MP, Schoolcraft WB, et al. Clinically recognizable error rate after the transfer of comprehensive chromosomal screened euploid embryos is low. Fertil Steril 2014; 102:1613-1618.