{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:55:10Z","timestamp":1787028910218,"version":"build-2736575974"},"reference-count":46,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and\/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.e., expanded carrier screening (ECS). ECS simultaneously analyses several disease-related genes and better estimates individuals\u2019 carrier status. Indeed, it is not influenced by ethnicity and is not limited to a subset of mutations that may arise from poor information in some populations. Moreover, if couples carry out ECS before conceiving a baby, it allows them to obtain a complete estimation of their genetic risk and the possibility to make an informed decision regarding their reproductive life. Despite these advantages, some weakness still exists regarding, for example, the number of genes and the kind of diseases to be analyzed and the interpretation and communication of the obtained results. Once these points are fixed, it is expectable that ECS will become an ever more frequent practice in clinical settings.<\/jats:p>","DOI":"10.3390\/medicina58030455","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T21:48:42Z","timestamp":1647899322000},"page":"455","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Current Updates on Expanded Carrier Screening: New Insights in the Omics Era"],"prefix":"10.3390","volume":"58","author":[{"given":"Iolanda","family":"Veneruso","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2880-6631","authenticated-orcid":false,"given":"Chiara","family":"Di Resta","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Vita-Salute San Raffaele, Via Olgettina 58, 20132 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2828-782X","authenticated-orcid":false,"given":"Rossella","family":"Tomaiuolo","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Vita-Salute San Raffaele, Via Olgettina 58, 20132 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9273-3698","authenticated-orcid":false,"given":"Valeria","family":"D\u2019Argenio","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate, Via G. Salvatore 486, 80145 Naples, Italy"},{"name":"Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Via di Val Cannuta 247, 00166 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"(2017). Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet. Gynecol., 129, e41\u2013e55.","DOI":"10.1097\/AOG.0000000000001952"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1186\/s12967-019-2019-8","article-title":"The evolving role of genetic tests in reproductive medicine","volume":"17","author":"Cariati","year":"2019","journal-title":"J. Transl. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1007\/s00439-019-02080-y","article-title":"Expanded carrier screening: Counseling and considerations","volume":"139","author":"Sparks","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"D\u2019Argenio, V. (2018). The High-Throughput Analyses Era: Are We Ready for the Data Struggle?. High Throughput, 7.","DOI":"10.3390\/ht7010008"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/pd.4647","article-title":"Changing trends in carrier screening for genetic disease in the United States","volume":"35","author":"Nazareth","year":"2015","journal-title":"Prenat. Diagn."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"(2017). Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstet. Gynecol., 129, e35\u2013e40.","DOI":"10.1097\/AOG.0000000000001951"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.rbmo.2010.05.012","article-title":"A universal carrier test for the long tail of Mendelian disease","volume":"21","author":"Srinivasan","year":"2010","journal-title":"Reprod. Biomed. Online"},{"key":"ref_8","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":"Lambert","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/s41436-018-0273-4","article-title":"The evolving landscape of expanded carrier screening: Challenges and opportunities","volume":"21","author":"Kraft","year":"2019","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1093\/humrep\/deab087","article-title":"Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population","volume":"36","author":"Capalbo","year":"2021","journal-title":"Hum. Reprod."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.jogn.2016.08.012","article-title":"Attitudes of European Geneticists Regarding Expanded Carrier Screening","volume":"46","author":"Janssens","year":"2017","journal-title":"J. Obstet. Gynecol. Neonatal. Nurs."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.ajhg.2018.04.004","article-title":"Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory","volume":"102","author":"Punj","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1007\/s10897-017-0074-y","article-title":"Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing","volume":"26","author":"Gilmore","year":"2017","journal-title":"J. Genet. Couns."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/ejhg.2016.43","article-title":"Population-based preconception carrier screening: How potential users from the general population view a test for 50 serious diseases","volume":"24","author":"Plantinga","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Gullo, G., Cucinella, G., Perino, A., Gullo, D., Segreto, D., Lagan\u00e0, A.S., Buzzaccarini, G., Do-narelli, Z., Marino, A., and Allegra, A. (2021). The Gender Gap in the Diagnostic-Therapeutic Journey of the Infertile Couple. Int. J. Environ. Res. Public Health, 18.","DOI":"10.3390\/ijerph18126184"},{"key":"ref_16","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":"ref_17","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":"ref_18","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":"ref_19","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":"ref_20","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":"Svenson","year":"2019","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1038\/s41436-019-0514-1","article-title":"Commentary: Expanded carrier screening: How much is too much?","volume":"21","author":"Wapner","year":"2019","journal-title":"Genet. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","article-title":"ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Gregg","year":"2021","journal-title":"Genet. Med."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Holtkamp, K.C.A., Vos, E.M., Rigter, T., Lakeman, P., Henneman, L., and Cornel, M.C. (2017). Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. BMC Health Serv. Res., 17.","DOI":"10.1186\/s12913-017-2083-9"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/gim.2017.69","article-title":"Systematic design and comparison of expanded carrier screening panels","volume":"20","author":"Beauchamp","year":"2018","journal-title":"Genet. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/biot.200600213","article-title":"Whole genome genotyping technologies on the BeadArray platform","volume":"2","author":"Steemers","year":"2007","journal-title":"Biotechnol. J."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/gim.2012.114","article-title":"An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals","volume":"15","author":"Lazarin","year":"2013","journal-title":"Genet. Med."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"D\u2019Argenio, V., Cariati, F., and Tomaiuolo, R. (2021). One4Two\u00ae: An Integrated Molecular Approach to Optimize Infertile Couples\u2019 Journey. Genes, 12.","DOI":"10.3390\/genes12010060"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1177\/2047487320934265","article-title":"Yield and clinical significance of genetic screening in elite and amateur athletes","volume":"28","author":"Limongelli","year":"2021","journal-title":"Eur. J. Prev. Cardiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1515\/cclm-2017-0553","article-title":"Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology","volume":"56","author":"Bergougnoux","year":"2018","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"161648","DOI":"10.1155\/2015\/161648","article-title":"Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives","volume":"2015","author":"Precone","year":"2015","journal-title":"Biomed. Res. Int."},{"key":"ref_31","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":"ref_32","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.jmoldx.2013.10.006","article-title":"Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing","volume":"16","author":"Hallam","year":"2014","journal-title":"J. Mol. Diagn."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1002\/pd.5656","article-title":"Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population","volume":"40","author":"Lee","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41436-020-0807-4","article-title":"Clinical experience with carrier screening in a general population: Support for a comprehensive pan-ethnic approach","volume":"22","author":"Westemeyer","year":"2020","journal-title":"Genet. Med."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Singh, K., Bijarnia-Mahay, S., Ramprasad, V.L., Puri, R.D., Nair, S., Sharda, S., Saxena, R., Kohli, S., Kulshreshtha, S., and Ganguli, I. (2020). NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results\u2014A pilot study. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-01153-4"},{"key":"ref_36","first-page":"177","article-title":"Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: A pilot study","volume":"27","author":"Chan","year":"2021","journal-title":"Hong Kong Med. J."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s13577-017-0168-8","article-title":"Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area","volume":"30","author":"Nakano","year":"2017","journal-title":"Hum. Cell."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1586\/14737159.2015.1053467","article-title":"Exome sequencing and whole genome sequencing for the detection of copy number variation","volume":"15","author":"Pfundt","year":"2015","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/s41598-021-04325-1","article-title":"Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene","volume":"12","author":"Zhao","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1053\/j.semperi.2018.07.019","article-title":"Prenatal genetic carrier screening in the genomic age","volume":"42","author":"Gregg","year":"2018","journal-title":"Semin. Perinatol."},{"key":"ref_41","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 Quality Foundation, and Society for Maternal-Fetal Medicine","volume":"125","author":"Edwards","year":"2015","journal-title":"Obstet. Gynecol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<378::AID-AJMG2>3.0.CO;2-K","article-title":"Carrier screening for cystic fibrosis: Test acceptance and one year follow-up","volume":"73","author":"Levenkron","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/ajmg.10464","article-title":"Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families","volume":"110","author":"Henneman","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Lazarin, G.A., Hawthorne, F., Collins, N.S., Platt, E.A., Evans, E.A., and Haque, I.S. (2014). Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0114391"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/j.socscimed.2008.07.011","article-title":"Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma","volume":"67","author":"Raz","year":"2008","journal-title":"Soc. Sci. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"359","DOI":"10.3109\/03630269.2013.791627","article-title":"Hemoglobinopathy carrier prevalence in the United Arab Emirates: First analysis of the Dubai Health Authority premarital screening program results","volume":"37","author":"Belhoul","year":"2013","journal-title":"Hemoglobin"}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/3\/455\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:40:23Z","timestamp":1760136023000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/3\/455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,21]]},"references-count":46,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3]]}},"alternative-id":["medicina58030455"],"URL":"https:\/\/doi.org\/10.3390\/medicina58030455","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,21]]}}}