{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:04:42Z","timestamp":1790384682342,"version":"4.1.0"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","bestpracticeobgyn.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Obstetrics &amp; Gynaecology"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.bpobgyn.2016.10.010","type":"journal-article","created":{"date-parts":[[2016,10,26]],"date-time":"2016-10-26T04:02:51Z","timestamp":1477454571000},"page":"74-88","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"special_numbering":"C","title":["Pre-implantation genetic diagnosis"],"prefix":"10.1016","volume":"39","author":[{"given":"Joanne","family":"Traeger-Synodinos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bpobgyn.2016.10.010_bib1","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/344768a0","article-title":"Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification","volume":"244","author":"Handyside","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib2","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1023\/A:1022571822585","article-title":"Preimplantation diagnosis of thalassemias","volume":"15","author":"Kuliev","year":"1998","journal-title":"J\u00a0Assist Reprod Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib3","series-title":"Textbook of Human Reproductive Genetics 1st edn","first-page":"157","article-title":"Preimplantation genetic diagnosis","author":"Traeger-Synodinos","year":"2014"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jmg.39.1.6","article-title":"Preimplantation genetic diagnosis in clinical practice","volume":"39","author":"Kanavakis","year":"2002","journal-title":"J\u00a0Med Genet"},{"issue":"9","key":"10.1016\/j.bpobgyn.2016.10.010_bib5","doi-asserted-by":"crossref","first-page":"a011692","DOI":"10.1101\/cshperspect.a011692","article-title":"World distribution, population genetics, and health burden of the hemoglobinopathies","volume":"2","author":"Williams","year":"2012","journal-title":"Cold Spring Harb Perspect Med"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib6","doi-asserted-by":"crossref","first-page":"4331","DOI":"10.1182\/blood-2010-01-251348","article-title":"The inherited diseases of hemoglobin are an emerging global health burden","volume":"115","author":"Weatherall","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib7","doi-asserted-by":"crossref","DOI":"10.1111\/nyas.13002","article-title":"Thalassemia: a look to the future","author":"Nathan","year":"2016","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib8","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/ajh.24231","article-title":"Thalassemia 2016: Modern medicine battles an ancient disease","volume":"91","author":"Rund","year":"2016","journal-title":"Am J Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib9","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/ejhg.2014.131","article-title":"EMQN haemoglobinopathies best practice meeting. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies","volume":"23","author":"Traeger-Synodinos","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib10","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1053\/beog.2000.0102","article-title":"What invasive procedure to use in early pregnancy","volume":"14","author":"Jauniaux","year":"2000","journal-title":"Baillieres Best Pract Res Clin Obstet Gynaecol"},{"issue":"9","key":"10.1016\/j.bpobgyn.2016.10.010_bib11","doi-asserted-by":"crossref","first-page":"a023085","DOI":"10.1101\/cshperspect.a023085","article-title":"Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA","volume":"5","author":"Chitty","year":"2015","journal-title":"Cold Spring Harb Perspect Med"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib12","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1016\/j.clinbiochem.2009.07.001","article-title":"Prenatal diagnosis of hemoglobin disorders: present and future strategies","volume":"42","author":"Harteveld","year":"2009","journal-title":"Clin Biochem"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib13","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1586\/erm.11.7","article-title":"Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies","volume":"11","author":"Traeger-Synodinos","year":"2011","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib14","doi-asserted-by":"crossref","first-page":"3130","DOI":"10.1001\/jama.285.24.3130","article-title":"Preimplantation diagnosis for Fanconi anemia combined with HLA matching","volume":"285","author":"Verlinsky","year":"2001","journal-title":"JAMA"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib15","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/humrep\/dev122","article-title":"ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011","volume":"30","author":"De Rycke","year":"2015","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib16","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1586\/ehm.13.29","article-title":"Eleven years of preimplantation genetic diagnosis for human leukocyte antigen matching: is there room for improvement?","volume":"6","author":"Traeger-Synodinos","year":"2013","journal-title":"Expert Rev Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib17","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1586\/eog.12.28","article-title":"Looking to the future: developments in preimplantation genetic diagnosis","volume":"7","year":"2012","journal-title":"Expert Rev Obstet Gynecol"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib18","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.rbmo.2011.05.016","article-title":"Seven years of experience of preimplantation HLA typing: a clinical overview of 327 cycles","volume":"23","author":"Kahraman","year":"2011","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib19","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1093\/humrep\/des106","article-title":"ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009","volume":"27","author":"Goossens","year":"2012","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib20","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1136\/jme.2004.010348","article-title":"Preimplantation HLA typing: having children to save our loved ones","volume":"31","author":"Devolder","year":"2005","journal-title":"J\u00a0Med Ethics"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib21","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1634\/stemcells.2006-0625","article-title":"The future (r)evolution of preimplantation genetic diagnosis\/human leukocyte antigen testing: ethical reflections","volume":"25","author":"De Wert","year":"2007","journal-title":"Stem Cells"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib22","first-page":"845","article-title":"Taskforce 9: the application of preimplantation genetic diagnosis for human leukocyte antigen typing of embryos","volume":"20","author":"Shenfield","year":"2005","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib23","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/pbc.23027","article-title":"In defense of the American Academy of Pediatrics policy statement\u2013children as hematopoietic stem cell donors","volume":"56","author":"Ross","year":"2011","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib24","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/humrep\/deq265","article-title":"ESHRE PGD Consortium\/Embryology Special Interest Group best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis\/screening (PGD\/PGS)","volume":"26","author":"Harton","year":"2011","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib25","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/humrep\/deq231","article-title":"ESHRE PGD consortium best practice guidelines for amplification-based PGD","volume":"26","author":"Harton","year":"2011","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib26","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1093\/humrep\/deq229","article-title":"ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD\/preimplantation genetic screening","volume":"26","author":"Harton","year":"2011","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib27","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1093\/humupd\/dmr052","article-title":"The ESHRE PGD Consortium: 10 years of data collection","volume":"18","author":"Harper","year":"2012","journal-title":"Hum Reprod Update"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib28","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1055\/s-0032-1313905","article-title":"New perspectives on embryo biopsy: not how, but when and why?","volume":"30","author":"Xu","year":"2012","journal-title":"Semin Reprod Med"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib29","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1093\/humrep\/des235","article-title":"One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre","volume":"26","author":"Haapaniemi-Kouru","year":"2012","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib30","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/humrep\/des362","article-title":"Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos","volume":"28","author":"Mertzanidou","year":"2013","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib31","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1093\/humrep\/deh893","article-title":"Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major","volume":"20","author":"Kokkali","year":"2005","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib32","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/j.fertnstert.2012.12.018","article-title":"Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease","volume":"99","author":"Treff","year":"2013","journal-title":"Fertil Steril"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib33","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/humrep\/den488","article-title":"The causes of misdiagnosis and adverse outcomes in PGD","volume":"24","author":"Wilton","year":"2009","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib34","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1093\/HUMREP\/10.6.1609","article-title":"Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis","volume":"10","author":"Findlay","year":"1995","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib35","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1093\/molehr\/gag051","article-title":"Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis","volume":"9","author":"Piyamongkol","year":"2003","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib36","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/molehr\/2.3.209","article-title":"Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols","volume":"2","author":"Sermon","year":"1996","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib37","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S1472-6483(10)60051-X","article-title":"Molecular comparison of single cell MDA products derived from different cell types","volume":"19","author":"Glentis","year":"2009","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib38","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1016\/j.rbmo.2010.01.006","article-title":"Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells","volume":"20","author":"Renwick","year":"2010","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib39","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1136\/jmg.2009.069971","article-title":"Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes","volume":"47","author":"Handyside","year":"2010","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib40","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.04.011","article-title":"Concurrent whole-genome haplotyping and copy-number profiling of single cells","volume":"96","author":"Zamani Esteki","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib41","doi-asserted-by":"crossref","first-page":"15964","DOI":"10.1073\/pnas.1523297113","article-title":"Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses","volume":"112","author":"Yan","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib42","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1093\/molehr\/gag046","article-title":"The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders","volume":"9","author":"Fiorentino","year":"2003","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib43","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/humu.20022","article-title":"Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis","volume":"23","author":"Vrettou","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib44","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3109\/03630269.2010.544620","article-title":"Novel and known microsatellite markers within the \u03b2-globin cluster to support robust preimplantation genetic diagnosis of \u03b2-thalassemia and sickle cell syndromes","volume":"35","author":"Zachaki","year":"2011","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib45","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.rbmo.2010.06.021","article-title":"Simplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR","volume":"21","author":"Wang","year":"2010","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib46","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s10815-011-9641-6","article-title":"Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR","volume":"29","author":"Piyamongkol","year":"2012","journal-title":"J\u00a0Assist Reprod Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib47","doi-asserted-by":"crossref","first-page":"253","DOI":"10.3109\/03630269.2012.666512","article-title":"Microsatellite markers within the \u03b1-globin gene cluster for robust preimplantation genetic diagnosis of severe \u03b1-thalassemia syndromes in Mediterranean populations","volume":"36","author":"Destouni","year":"2012","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib48","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S1472-6483(10)62132-3","article-title":"Preimplantation genetic diagnosis with HLA matching","volume":"9","author":"Rechitsky","year":"2004","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib49","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1007\/s00251-002-0535-8","article-title":"High-density map of short tandem repeats across the human major histocompatibility complex","volume":"54","author":"Cullen","year":"2003","journal-title":"Immunogenetics"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib50","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1086\/378101","article-title":"An integrated haplotype map of the human major histocompatibility complex","volume":"73","author":"Walsh","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib51","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1093\/humrep\/deh153","article-title":"Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos","volume":"19","author":"Van de Velde","year":"2004","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib52","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/molehr\/gah055","article-title":"Development and clinical application of a strategy for preimplantation genetic diagnosis of single gene disorders combined with HLA matching","volume":"10","author":"Fiorentino","year":"2004","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib53","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1038\/sj.ejhg.5201435","article-title":"Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching","volume":"13","author":"Fiorentino","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib54","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1093\/humrep\/den423","article-title":"The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing","volume":"24","author":"Van de Velde","year":"2009","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib55","doi-asserted-by":"crossref","first-page":"49","DOI":"10.3109\/03630269.2013.842582","article-title":"A\u00a0generic, flexible protocol for preimplantation human leukocyte antigen typing alone or in combination with a monogenic disease, for rapid case work-up and application","volume":"38","author":"Kakourou","year":"2014","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.010_bib56","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.rbmo.2011.06.006","article-title":"PGD and HLA matching: not a quick fix","volume":"23","author":"Verproest","year":"2011","journal-title":"Reprod Biomed Online"}],"container-title":["Best Practice &amp; Research Clinical Obstetrics &amp; Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693416301183?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693416301183?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T23:00:37Z","timestamp":1601161237000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521693416301183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":56,"alternative-id":["S1521693416301183"],"URL":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2016.10.010","relation":{},"ISSN":["1521-6934"],"issn-type":[{"value":"1521-6934","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pre-implantation genetic diagnosis","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Obstetrics & Gynaecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2016.10.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}