{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T17:26:23Z","timestamp":1787592383059,"version":"build-2736575974"},"reference-count":69,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000862","name":"Doris Duke Charitable Foundation Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD107190"],"award-info":[{"award-number":["R01HD107190"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020055","name":"Brianna Marie Foundation Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013774","name":"Fetal Health Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajogmfm.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Obstetrics & Gynecology MFM"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ajogmf.2026.102067","type":"journal-article","created":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T15:42:12Z","timestamp":1784389332000},"page":"102067","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Incremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum"],"prefix":"10.1016","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1598-0104","authenticated-orcid":false,"given":"Rozlyn C.T.","family":"Boutin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2661-6642","authenticated-orcid":false,"given":"Billie R.","family":"Lianoglou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1121-6897","authenticated-orcid":false,"given":"Nuriye N.","family":"Sahin Hodoglugil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8376-3055","authenticated-orcid":false,"given":"Katie","family":"Tick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7200-4540","authenticated-orcid":false,"given":"Carmen M.A.","family":"Santoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8834-5566","authenticated-orcid":false,"given":"Ugur","family":"Hodoglugil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7199-8647","authenticated-orcid":false,"given":"Pierre","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7674-8937","authenticated-orcid":false,"given":"Jessica","family":"Van Ziffle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4634-8830","authenticated-orcid":false,"given":"Patrick","family":"Devine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4126-2061","authenticated-orcid":false,"given":"Neil","family":"Risch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5967-1701","authenticated-orcid":false,"given":"Mary E.","family":"Norton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-2186","authenticated-orcid":false,"given":"Teresa N.","family":"Sparks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0001","doi-asserted-by":"crossref","first-page":"B2","DOI":"10.1016\/j.ajog.2016.07.016","article-title":"The use of chromosomal microarray for prenatal diagnosis","volume":"215","author":"Dugoff","year":"2016","journal-title":"Am J Obstet Gynecol"},{"issue":"5","key":"10.1016\/j.ajogmf.2026.102067_bib0002","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0003","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1038\/s41436-019-0731-7","article-title":"The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Monaghan","year":"2020","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0004","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/pd.6157","article-title":"International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis","volume":"42","author":"Van den Veyver","year":"2022","journal-title":"Prenat Diagn"},{"issue":"10","key":"10.1016\/j.ajogmf.2026.102067_bib0005","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1136\/jmedgenet-2021-107897","article-title":"Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists","volume":"59","author":"Lazier","year":"2022","journal-title":"J Med Genet"},{"issue":"8","key":"10.1016\/j.ajogmf.2026.102067_bib0006","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000160","article-title":"Genetic variation in an individual human exome","volume":"4","author":"Ng","year":"2008","journal-title":"PLoS Genet"},{"issue":"7261","key":"10.1016\/j.ajogmf.2026.102067_bib0007","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","article-title":"Targeted capture and massively parallel sequencing of 12 human exomes","volume":"461","author":"Ng","year":"2009","journal-title":"Nature"},{"issue":"18","key":"10.1016\/j.ajogmf.2026.102067_bib0008","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1056\/NEJMoa2023643","article-title":"Exome sequencing for prenatal diagnosis in nonimmune hydrops fetalis","volume":"383","author":"Sparks","year":"2020","journal-title":"N Engl J Med"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0009","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.ajog.2025.04.072","article-title":"Genetic diseases underlying a spectrum of fetal effusions","volume":"233","author":"Gulrajani","year":"2025","journal-title":"Am J Obstet Gynecol"},{"issue":"7","key":"10.1016\/j.ajogmf.2026.102067_bib0010","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1002\/pd.5977","article-title":"The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing","volume":"42","author":"Wagner","year":"2022","journal-title":"Prenat Diagn"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0011","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1093\/qjmed\/hcae187","article-title":"Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis","volume":"118","author":"Liu","year":"2025","journal-title":"QJM An Int J Med"},{"issue":"7","key":"10.1016\/j.ajogmf.2026.102067_bib0012","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1038\/s41436-021-01121-0","article-title":"High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) study","volume":"23","author":"Al-Kouatly","year":"2021","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0013","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/uog.23652","article-title":"Fetal hydrops and the Incremental yield of next-generation sequencing over standard prenatal diagnostic testing (FIND) study: prospective cohort study and meta-analysis","volume":"58","author":"Mone","year":"2021","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0014","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/uog.27491","article-title":"Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis","volume":"63","author":"Shreeve","year":"2024","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"8","key":"10.1016\/j.ajogmf.2026.102067_bib0015","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/humu.22813","article-title":"Comparison of exome and genome sequencing technologies for the complete capture of protein-coding regions","volume":"36","author":"Lelieveld","year":"2015","journal-title":"Hum Mutat"},{"issue":"17","key":"10.1016\/j.ajogmf.2026.102067_bib0016","doi-asserted-by":"crossref","first-page":"5473","DOI":"10.1073\/pnas.1418631112","article-title":"Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants","volume":"112","author":"Belkadi","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0017","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41525-022-00295-z","article-title":"Best practices for the interpretation and reporting of clinical whole genome sequencing","volume":"7","author":"Austin-Tse","year":"2022","journal-title":"npj Genomic Med"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0018","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1016\/j.gim.2022.02.007","article-title":"Genomic answers for children: dynamic analyses of >1000 pediatric rare disease genomes","volume":"24","author":"Cohen","year":"2022","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0019","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ajog.2014.12.018","article-title":"Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis","volume":"212","author":"Norton","year":"2015","journal-title":"Am J Obstet Gynecol"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0020","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1038\/s41436-018-0352-6","article-title":"Nonimmune hydrops fetalis: identifying the underlying genetic etiology","volume":"21","author":"Sparks","year":"2019","journal-title":"Genet Med"},{"issue":"9","key":"10.1016\/j.ajogmf.2026.102067_bib0021","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1002\/pd.5479","article-title":"A system-based approach to the genetic etiologies of non-immune hydrops fetalis","volume":"39","author":"Mardy","year":"2019","journal-title":"Prenat Diagn"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0022","article-title":"Society for maternal-fetal medicine consult series #75: evaluation and management of non-immune hydrops fetalis","volume":"2","author":"Sparks","year":"2026","journal-title":"Pregnancy"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0023","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/uog.24911","article-title":"Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting","volume":"60","author":"Westenius","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0024","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/humu.23374","article-title":"Evaluation of exome filtering techniques for the analysis of clinically relevant genes","volume":"39","author":"Kernohan","year":"2018","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0025","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2015.137","article-title":"Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency","volume":"18","author":"Bone","year":"2016","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0026","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ajmg.c.31989","article-title":"Prenatal phenotyping: a community effort to enhance the human phenotype ontology","volume":"190","author":"Dhombres","year":"2022","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0027","doi-asserted-by":"crossref","DOI":"10.1016\/j.bpobgyn.2024.102575","article-title":"Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis","volume":"98","author":"Shear","year":"2025","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0028","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.ajhg.2009.09.003","article-title":"Clinical diagnostics in human genetics with semantic similarity searches in ontologies","volume":"85","author":"K\u00f6hler","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.ajogmf.2026.102067_bib0029","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"},{"issue":"8","key":"10.1016\/j.ajogmf.2026.102067_bib0030","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100866","article-title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Miller","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0031","series-title":"RStudio: Integrated Development Environment for R","year":"2025"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0032","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2007.11.002","article-title":"Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation","volume":"82","author":"Froyen","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0033","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ajhg.2012.06.010","article-title":"Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements","volume":"91","author":"Froyen","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.ajogmf.2026.102067_bib0034","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/jog.16310","article-title":"Prenatal diagnosis and management of fetal anemia caused by hemoglobin H-Adana: a case report","volume":"51","author":"Sirilert","year":"2025","journal-title":"J Obstet Gynaecol Res"},{"issue":"3","key":"10.1016\/j.ajogmf.2026.102067_bib0035","doi-asserted-by":"crossref","first-page":"67","DOI":"10.15406\/ogij.2014.01.00017","article-title":"Prenatal diagnosis of Hb H hydrops fetalis caused by haemoglobin Adana","volume":"1","author":"Alberry","year":"2014","journal-title":"Obstet Gynecol Int J"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0036","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41436-020-00967-0","article-title":"A systematic review of monogenic etiologies of nonimmune hydrops fetalis","volume":"23","author":"Quinn","year":"2021","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0037","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/gim.2017.111","article-title":"Molecular autopsy in maternal-fetal medicine","volume":"20","author":"Shamseldin","year":"2018","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0038","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1055\/s-0035-1566233","article-title":"Xp1122 microduplications including HUWE1: case report and literature review","volume":"47","author":"Orivoli","year":"2015","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0039","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev-genom-102822-100509","article-title":"DECIPHER: improving genetic diagnosis through dynamic integration of genomic and clinical data","volume":"24","author":"Foreman","year":"2023","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0040","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1016\/j.tjog.2020.09.029","article-title":"First-trimester cystic hygroma and neurodevelopmental disorders: the association to remember","volume":"59","author":"Pan","year":"2020","journal-title":"Taiwan J Obstet Gynecol"},{"issue":"9","key":"10.1016\/j.ajogmf.2026.102067_bib0041","doi-asserted-by":"crossref","first-page":"2364","DOI":"10.1002\/ajmg.a.63311","article-title":"Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome","volume":"191","author":"Kierzkowska","year":"2023","journal-title":"Am J Med Genet Part A"},{"issue":"24","key":"10.1016\/j.ajogmf.2026.102067_bib0042","doi-asserted-by":"crossref","first-page":"4131","DOI":"10.1093\/hmg\/ddac167","article-title":"Natural history of KBG syndrome in a large European cohort","volume":"31","author":"Loberti","year":"2022","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0043","first-page":"1","article-title":"Genomic sequencing: techniques, advancements, and the path ahead","volume":"8","author":"Patwekar","year":"2025","journal-title":"J Bio-X Res"},{"issue":"20","key":"10.1016\/j.ajogmf.2026.102067_bib0044","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/diagnostics15202579","article-title":"Advancements in prenatal genetic screening and testing: emerging technologies and evolving applications","volume":"15","author":"Makhamreh","year":"2025","journal-title":"Diagnostics"},{"issue":"5","key":"10.1016\/j.ajogmf.2026.102067_bib0045","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1002\/uog.27517","article-title":"Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype\u2013genotype discoveries","volume":"63","author":"Qi","year":"2024","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"9","key":"10.1016\/j.ajogmf.2026.102067_bib0046","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1016\/j.ajhg.2023.07.010","article-title":"Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies","volume":"110","author":"Lowther","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.ajogmf.2026.102067_bib0047","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/genes12030376","article-title":"Whole genome sequencing in the evaluation of fetal structural anomalies: a parallel test with chromosomal microarray plus whole exome sequencing","volume":"12","author":"Zhou","year":"2021","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0048","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.ajog.2025.08.025","article-title":"Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study","volume":"234","author":"Gao","year":"2025","journal-title":"Am J Obstet Gynecol"},{"issue":"3","key":"10.1016\/j.ajogmf.2026.102067_bib0049","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/0002-9378(92)91365-H","article-title":"Hydrops fetalis associated with congenital myotonic dystrophy","volume":"166","author":"Afifi","year":"1992","journal-title":"Am J Obstet Gynecol"},{"issue":"10","key":"10.1016\/j.ajogmf.2026.102067_bib0050","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.3346\/jkms.2012.27.10.1269","article-title":"A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization","volume":"27","author":"Bin Son","year":"2012","journal-title":"J Korean Med Sci"},{"issue":"11","key":"10.1016\/j.ajogmf.2026.102067_bib0051","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1002\/pd.1970131104","article-title":"DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis","volume":"13","author":"Stratton","year":"1993","journal-title":"Prenat Diagn"},{"issue":"8","key":"10.1016\/j.ajogmf.2026.102067_bib0052","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1038\/s41591-024-03085-5","article-title":"Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders","volume":"30","author":"Greene","year":"2024","journal-title":"Nat Med"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0053","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13073-022-01073-3","article-title":"Recommendations for clinical interpretation of variants found in non-coding regions of the genome","volume":"14","author":"Ellingford","year":"2022","journal-title":"Genome Med"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0054","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-019-10717-9","article-title":"Characterising the loss-of-function impact of 5\u2019 untranslated region variants in 15,708 individuals","volume":"11","author":"Whiffin","year":"2020","journal-title":"Nat Commun"},{"issue":"11","key":"10.1016\/j.ajogmf.2026.102067_bib0055","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1164\/rccm.202501-0186OC","article-title":"Noncoding DNA variants increase the genetic diagnostic yield in primary ciliary dyskinesia","volume":"211","author":"Briggs","year":"2025","journal-title":"Am J Respir Crit Care Med"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0056","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/s41431-025-01820-1","article-title":"Expanding the mutational spectrum of ReNU syndrome: insights into 5\u2019 stem-loop variants","volume":"33","author":"Bruselles","year":"2025","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"10.1016\/j.ajogmf.2026.102067_bib0057","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0058","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2023.53514","article-title":"Cost-effectiveness of whole-genome vs whole-exome sequencing among children with suspected genetic disorders","volume":"7","author":"Nurchis","year":"2024","journal-title":"JAMA Netw Open"},{"issue":"4","key":"10.1016\/j.ajogmf.2026.102067_bib0059","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s00439-023-02639-w","article-title":"Functional categorization of gene regulatory variants that cause mendelian conditions","volume":"143","author":"Cheng","year":"2024","journal-title":"Hum Genet"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13073-023-01240-0","article-title":"Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases","volume":"15","author":"Pagnamenta","year":"2023","journal-title":"Genome Med"},{"issue":"2","key":"10.1016\/j.ajogmf.2026.102067_bib0061","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.jgg.2024.01.001","article-title":"Exploring noncoding variants in genetic diseases: from detection to functional insights","volume":"51","author":"Wu","year":"2024","journal-title":"J Genet Genomics"},{"issue":"5","key":"10.1016\/j.ajogmf.2026.102067_bib0062","doi-asserted-by":"crossref","first-page":"2522","DOI":"10.1093\/nar\/gkac130","article-title":"GREEN-DB: A framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data","volume":"50","author":"Giacopuzzi","year":"2022","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0063","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1038\/s41467-024-44804-3","article-title":"Utility of long-read sequencing for all of us","volume":"15","author":"Mahmoud","year":"2024","journal-title":"Nat Commun"},{"issue":"1","key":"10.1016\/j.ajogmf.2026.102067_bib0064","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41525-024-00454-4","article-title":"Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes","volume":"9","author":"Showpnil","year":"2024","journal-title":"npj Genomic Med"},{"issue":"7","key":"10.1016\/j.ajogmf.2026.102067_bib0065","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1002\/pd.6108","article-title":"Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies","volume":"42","author":"Wang","year":"2022","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0066","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.620162","article-title":"Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis","volume":"11","author":"Yu","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.ajogmf.2026.102067_bib0067","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2019.00761","article-title":"Prenatal diagnosis of fetuses with increased nuchal translucency by genome sequencing analysis","volume":"10","author":"Choy","year":"2019","journal-title":"Front Genet"},{"issue":"6","key":"10.1016\/j.ajogmf.2026.102067_bib0068","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1002\/uog.24842","article-title":"Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study","volume":"59","author":"Mone","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"9","key":"10.1016\/j.ajogmf.2026.102067_bib0069","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1002\/ajmg.a.62772","article-title":"Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders","volume":"188","author":"O\u2019Grady","year":"2022","journal-title":"Am J Med Genet Part A"}],"container-title":["American Journal of Obstetrics & Gynecology MFM"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589933326001667?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589933326001667?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:34:22Z","timestamp":1787589262000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589933326001667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":69,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S2589933326001667"],"URL":"https:\/\/doi.org\/10.1016\/j.ajogmf.2026.102067","relation":{},"ISSN":["2589-9333"],"issn-type":[{"value":"2589-9333","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Incremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum","name":"articletitle","label":"Article Title"},{"value":"American Journal of Obstetrics & Gynecology MFM","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajogmf.2026.102067","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"102067"}}