{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:21:55Z","timestamp":1787008915770,"version":"build-2736575974"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,5,22]],"date-time":"2021-05-22T00:00:00Z","timestamp":1621641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,6,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>STUDY QUESTION<\/jats:title>\n                    <jats:p>What is the clinical validity and utility of preconception Expanded Carrier Screening (ECS) application on the management of prospective parents?<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>SUMMARY ANSWER<\/jats:title>\n                    <jats:p>The high detection rate of at-risk couples (ARCs) and the high proportion opting for IVF\/preimplantation genetic testing (PGT) treatment demonstrate the clinical utility of ECS in the preconception space in IVF and general population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WHAT IS KNOWN ALREADY<\/jats:title>\n                    <jats:p>About 2\u20134% of couples are at risk of conceiving a child with an autosomal recessive or X-linked genetic disorder. In recent years, the increasing cost-effectiveness of genetic diagnostic techniques has allowed the creation of ECS panels for the simultaneous detection of multiple recessive disorders. Comprehensive preconception genetic screening holds the potential to significantly improve couple\u2019s genetic risk assessment and reproductive planning to avoid detectable inheritable genetic offspring.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY DESIGN, SIZE, DURATION<\/jats:title>\n                    <jats:p>A total of 3877 individuals without a family history of genetic conditions were analyzed between January 2017 and January 2020. Of the enrolled individuals, 1212 were gamete donors and 2665 were patients planning on conceiving from both the IVF and the natural conception group. From the non-donor cohort, 1133 were analyzed as individual patients, while the remaining ones were analyzed as couples, for a total of 766 couples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>PARTICIPANTS\/MATERIALS, SETTING, METHODS<\/jats:title>\n                    <jats:p>A focused ECS panel was developed following American College of Obstetrics and Gynecology ACOG-recommended criteria (prevalence, carrier rate, severity), including highly penetrant severe childhood conditions. Couples were defined at-risk when both partners carried an autosomal recessive pathogenic\/likely pathogenic variant (PLP) on the same gene or when the woman was a carrier of an X-linked PLP variant. ARC detection rate defined the clinical validity of the ECS approach. Clinical utility was evaluated by monitoring ARCs reproductive decision making.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>MAIN RESULTS AND THE ROLE OF CHANCE<\/jats:title>\n                    <jats:p>A total of 402 individuals (10.4%) showed PLP for at least one of the genes tested. Among the 766 couples tested, 173 showed one carrier partner (22.6%), whereas 20 couples (2.6%) were found to be at increased risk. Interestingly, one ARC was identified as a result of cascade testing in the extended family of an individual carrying a pathogenic variant on the Survival Of Motor Neuron 1SMN1 gene. Of the identified ARCs, 5 (0.7%) were at risk for cystic fibrosis, 5 (0.7%) for fragile X syndrome, 4 (0.5%) for spinal muscular atrophy, 4 (0.5%) for Beta-Thalassemia\/Sickle Cell Anemia, 1 (0.1%) for Smith-Lemli-Opitz Syndrome and 1 (0.1%) for Duchenne\/Becker Dystrophy. Fifteen ARCs were successfully followed up from both the IVF and the natural conception groups. All of these (15\/15) modified their reproductive planning by undergoing ART with Preimplantation Genetic Testing for Monogenic disease and Aneuploidies (PGT-M and PGT-A). To date, 6\/15 (40%) couples completed their PGT cycle with euploid\/unaffected embryos achieving a pregnancy after embryo transfer and three of them have already had an unaffected baby.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n                    <jats:p>The use of a limited panel of core gene-disease pairs represents a limitation on the research perspective as it can underestimate the rate of detectable carriers and ARCs in this cohort of prospective parents. Expanding the scope of ECS to a larger panel of conditions is becoming increasingly feasible, thanks to a persistent technological evolution and progressive cataloging of gene\u2013disease associations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n                    <jats:p>These results highlight the potential clinical validity and utility of ECS in reducing the risk of a pregnancy affected by a detectable inheritable genetic condition. The steady reduction in the costs of genetic analyses enables the expansion of monogenic testing\/screening applications at the preimplantation stage, thus, providing valid decisional support and reproductive autonomy to patients, particularly in the context of IVF.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n                    <jats:p>No external funding was used for this study. A.C., M.F., S.C., M.P., L.G., and C.P. are employees of Igenomix Italy. C.S. is the head of the scientific board of Igenomix.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>TRIAL REGISTRATION NUMBER<\/jats:title>\n                    <jats:p>N\/A.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/humrep\/deab087","type":"journal-article","created":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T08:47:13Z","timestamp":1616489233000},"page":"2050-2061","source":"Crossref","is-referenced-by-count":58,"title":["Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population"],"prefix":"10.1093","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0109-323X","authenticated-orcid":false,"given":"A","family":"Capalbo","sequence":"first","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"},{"name":"Igenomix Foundation, INCLIVA, Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fabiani","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Caroselli","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Poli","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Girardi","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Patassini","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Favero","sequence":"additional","affiliation":[{"name":"ARC-STER, Venice, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5390-9221","authenticated-orcid":false,"given":"D","family":"Cimadomo","sequence":"additional","affiliation":[{"name":"GeneraLife, Center for Reproductive Medicine, Clinica Valle Giulia, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Vaiarelli","sequence":"additional","affiliation":[{"name":"GeneraLife, Center for Reproductive Medicine, Clinica Valle Giulia, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0902-9531","authenticated-orcid":false,"given":"C","family":"Simon","sequence":"additional","affiliation":[{"name":"Igenomix Italy, Marostica, Italy"},{"name":"Igenomix Foundation, INCLIVA, Valencia, Spain"},{"name":"Department of Obstetrics and Gynecology, University of Valencia, Valencia, Spain"},{"name":"Department of Obstetrics and Gynecology BIDMC, Harvard University, Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L F","family":"Rienzi","sequence":"additional","affiliation":[{"name":"GeneraLife, Center for Reproductive Medicine, Clinica Valle Giulia, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F M","family":"Ubaldi","sequence":"additional","affiliation":[{"name":"GeneraLife, Center for Reproductive Medicine, Clinica Valle Giulia, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,5,22]]},"reference":[{"key":"2021070807490174400_deab087-B1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.healthpol.2007.02.007","article-title":"Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: a sociotechnical analysis","volume":"83","author":"Achterbergh","year":"2007","journal-title":"Health Policy"},{"key":"2021070807490174400_deab087-B2","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.ajhg.2016.03.024","article-title":"Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium","volume":"98","author":"Amendola","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2021070807490174400_deab087-B3","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1097\/01.AOG.0000291570.63450.44","article-title":"ACOG Practice Bulletin No. 88: Invasive prenatal testing for aneuploidy","volume":"110","author":"American College of Obstetricians and Gynaecologists","year":"2007","journal-title":"Obstet Gynecol"},{"key":"2021070807490174400_deab087-B4","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/gim.2017.134","article-title":"Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests","volume":"20","author":"Archibald","year":"2018","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B5","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s11538-020-00833-9","article-title":"Spatial dynamics and spread of ecosystem engineers: two patch analysis","volume":"82","author":"Arroyo-Esquivel","year":"2020","journal-title":"Bull Math Biol"},{"key":"2021070807490174400_deab087-B6","doi-asserted-by":"crossref","first-page":"65ra4","DOI":"10.1126\/scitranslmed.3001756","article-title":"Carrier testing for severe childhood recessive diseases by next-generation sequencing","volume":"3","author":"Bell","year":"2011","journal-title":"Sci Transl Med"},{"key":"2021070807490174400_deab087-B7","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1038\/s41436-019-0466-5","article-title":"A data-driven evaluation of the size and content of expanded carrier screening panels","volume":"21","author":"Ben-Shachar","year":"2019","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B8","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/ejhg.2014.222","article-title":"Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies","volume":"23","author":"Capalbo","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2021070807490174400_deab087-B9","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/humrep\/dev294","article-title":"Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies","volume":"31","author":"Capalbo","year":"2016","journal-title":"Hum Reprod"},{"key":"2021070807490174400_deab087-B10","doi-asserted-by":"crossref","first-page":"e1008409","DOI":"10.1371\/journal.pgen.1008409","article-title":"Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data from 14,125 exomes","volume":"15","author":"Capalbo","year":"2019","journal-title":"PLoS Genet"},{"key":"2021070807490174400_deab087-B11","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1038\/gim.2016.193","article-title":"A curated gene list for reporting results of newborn genomic sequencing","volume":"19","author":"Ceyhan-Birsoy","year":"2017","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B12","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/pd.5109","article-title":"Expanded carrier screening for monogenic disorders: where are we now?","volume":"38","author":"Chokoshvili","year":"2018","journal-title":"Prenat Diagn"},{"key":"2021070807490174400_deab087-B13","author":"Committee Opinion No","year":"2017"},{"key":"2021070807490174400_deab087-B14","doi-asserted-by":"crossref","first-page":"380","DOI":"10.6004\/jnccn.2020.0017","article-title":"Genetic\/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020 featured updates to the NCCN guidelines","volume":"18","author":"Daly","year":"2020","journal-title":"J Natl Compr Canc Netw"},{"key":"2021070807490174400_deab087-B15","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/pd.5611","article-title":"International perspectives on the implementation of reproductive carrier screening","volume":"40","author":"Delatycki","year":"2020","journal-title":"Prenat Diagn"},{"key":"2021070807490174400_deab087-B16","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/s41431-019-0356-y","article-title":"Expanded reproductive carrier screening\u2014how can we do the most good and cause the least harm?","volume":"27","author":"Delatycki","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"2021070807490174400_deab087-B17","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1093\/humrep\/deu111","article-title":"ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues","volume":"29","author":"Dondorp","year":"2014","journal-title":"Hum Reprod"},{"key":"2021070807490174400_deab087-B18","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1002\/jgc4.1349","article-title":"Assessing clinical education tools for expanded carrier screening","volume":"30","author":"Dugger","year":"2020","journal-title":"J Genet Couns"},{"key":"2021070807490174400_deab087-B19","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1097\/AOG.0000000000000666","article-title":"Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Qua","volume":"125","author":"Edwards","year":"2015","journal-title":"Obstet Gynecol"},{"key":"2021070807490174400_deab087-B20","author":"Ellard","year":"2020"},{"key":"2021070807490174400_deab087-B21","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/gim.2016.8","article-title":"Expanded carrier screening in an infertile population: how often is clinical decision making affected?","volume":"18","author":"Franasiak","year":"2016","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B22","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/s41436-019-0676-x","article-title":"Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants","volume":"22","author":"Fridman","year":"2020","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B23","author":"Genomics Advisory Working Group & Women\u2019s Health Committee","year":"2019"},{"key":"2021070807490174400_deab087-B24","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1007\/s10897-017-0160-1","article-title":"Clinical utility of expanded carrier screening: reproductive behaviors of at-risk couples","volume":"27","author":"Ghiossi","year":"2018","journal-title":"J Genet Couns"},{"key":"2021070807490174400_deab087-B25","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1038\/s41436-019-0472-7","article-title":"Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels","volume":"21","author":"Guo","year":"2019","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B26","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.6004\/jnccn.2019.0044","article-title":"Genetic\/familial high-risk assessment: colorectal, version 2.2019 featured updates to the NCCN guidelines","volume":"17","author":"Gupta","year":"2019","journal-title":"J Natl Compr Canc Netw"},{"key":"2021070807490174400_deab087-B27","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1001\/jama.2016.11139","article-title":"Modeled fetal risk of genetic diseases identified by expanded carrier screening","volume":"316","author":"Haque","year":"2016","journal-title":"JAMA"},{"key":"2021070807490174400_deab087-B28","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1469-1809.2007.00389.x","article-title":"The birth prevalence of PKU in populations of European, South Asian and Sub-Saharan African ancestry living in South East England","volume":"72","author":"Hardelid","year":"2008","journal-title":"Ann Hum Genet"},{"key":"2021070807490174400_deab087-B29","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1038\/ejhg.2015.271","article-title":"Responsible implementation of expanded carrier screening","volume":"24","author":"Henneman","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2021070807490174400_deab087-B30","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ajhg.2020.06.006","article-title":"The genetic landscape and epidemiology of phenylketonuria","volume":"107","author":"Hillert","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2021070807490174400_deab087-B31","first-page":"282","article-title":"Rates of chromosome abnormalities at different maternal ages","volume":"58","author":"Hook","year":"1981","journal-title":"Obstet Gynecol"},{"key":"2021070807490174400_deab087-B32","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/bioe.12555","article-title":"The aims of expanded universal carrier screening: autonomy, prevention, and responsible parenthood","volume":"33","author":"Hout","year":"2019","journal-title":"Bioethics"},{"key":"2021070807490174400_deab087-B33","author":"Human Genetics Commission","year":"2011"},{"key":"2021070807490174400_deab087-B34","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1038\/s41436-018-0321-0","article-title":"Clinical utility of expanded carrier screening: results-guided actionability and outcomes","volume":"21","author":"Johansen Taber","year":"2019","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B35","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/s41431-020-0685-x","article-title":"Gene selection for the Australian Reproductive Genetic Carrier Screening Project (\u201cMackenzie\u2019s Mission\u201d)","volume":"29","author":"Kirk","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"2021070807490174400_deab087-B36","doi-asserted-by":"crossref","first-page":"e114391","DOI":"10.1371\/journal.pone.0114391","article-title":"Systematic classification of disease severity for evaluation of expanded carrier screening panels","volume":"9","author":"Lazarin","year":"2014","journal-title":"PLoS One"},{"key":"2021070807490174400_deab087-B37","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jmoldx.2014.12.005","article-title":"Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1","volume":"17","author":"Lim","year":"2015","journal-title":"J Mol Diagnostics"},{"key":"2021070807490174400_deab087-B38","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1258\/096914106778440617","article-title":"Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes","volume":"13","author":"Marks","year":"2006","journal-title":"J Med Screen"},{"key":"2021070807490174400_deab087-B39","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/j.fertnstert.2015.07.1166","article-title":"Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology","volume":"104","author":"Martin","year":"2015","journal-title":"Fertil Steril"},{"key":"2021070807490174400_deab087-B40","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"2021070807490174400_deab087-B41","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1001\/jama.2019.10987","article-title":"Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement","volume":"322","author":"Owens","year":"2019","journal-title":"J Am Med Assoc"},{"key":"2021070807490174400_deab087-B42","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","article-title":"The clinical genome resource","volume":"372","author":"Rehm","year":"2015","journal-title":"N Engl J Med"},{"key":"2021070807490174400_deab087-B43","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B44","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/humupd\/dmaa001","article-title":"Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature","volume":"26","author":"Steijvoort","year":"2020","journal-title":"Hum Reprod Update"},{"key":"2021070807490174400_deab087-B45","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/AOG.0000000000002139","article-title":"Finding middle ground in constructing a clinically useful expanded carrier screening panel","volume":"130","author":"Stevens","year":"2017","journal-title":"Obstet Gynecol"},{"key":"2021070807490174400_deab087-B46","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1136\/bmj.308.6942.1462","article-title":"Active cascade testing for carriers of cystic fibrosis gene","volume":"308","author":"Super","year":"1994","journal-title":"BMJ"},{"key":"2021070807490174400_deab087-B47","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1373\/clinchem.2011.174615","article-title":"for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5\u2032 and 3\u2032 direct triplet-primed PCRs","volume":"58","author":"Teo","year":"2012","journal-title":"Clin Chem"},{"key":"2021070807490174400_deab087-B48","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/j.fertnstert.2012.11.007","article-title":"Four-hour quantitative real-time polymerase chain reaction-based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficacy","volume":"99","author":"Treff","year":"2013","journal-title":"Fertil Steril"},{"key":"2021070807490174400_deab087-B49","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/gim.2015.41","article-title":"Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics","volume":"17","author":"Watson","year":"2015","journal-title":"Genet Med"},{"key":"2021070807490174400_deab087-B50","doi-asserted-by":"crossref","first-page":"hoaa063","DOI":"10.1093\/hropen\/hoaa063","article-title":"The ethics of preconception expanded carrier screening in patients seeking assisted reproduction","volume":"2021","author":"de Wert","year":"2021","journal-title":"Hum Reprod Open"},{"key":"2021070807490174400_deab087-B51","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.fertnstert.2015.10.003","article-title":"Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification","volume":"105","author":"Zimmerman","year":"2016","journal-title":"Fertil Steril"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/36\/7\/2050\/38695732\/deab087.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/36\/7\/2050\/38695732\/deab087.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T19:03:03Z","timestamp":1698778983000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humrep\/article\/36\/7\/2050\/6280300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,22]]},"references-count":51,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,5,22]]},"published-print":{"date-parts":[[2021,6,18]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/deab087","relation":{},"ISSN":["0268-1161","1460-2350"],"issn-type":[{"value":"0268-1161","type":"print"},{"value":"1460-2350","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,7,1]]},"published":{"date-parts":[[2021,5,22]]}}}