{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T13:45:05Z","timestamp":1777038305352,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The present study aimed to evaluate the efficacy of LC\u2010GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC\u2010GS and traditional tests, including CMA and karyotyping. LC\u2010GS was performed with 3X coverage to gauge its proficiency in identifying copy number variations (CNVs), aneuploidies, regions of homozygosity (ROH), and chromosome mosaicism. Data from both methods were compared to evaluate their sensitivity, specificity, and overall clinical utility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>LC\u2010GS at a depth of 3X identified a total of 77 positive samples, yielding a detection rate of 38.5% (77\/200). This included 17 cases of aneuploidy, 36 instances of CNVs, 20 cases linked to ROH, and 8 cases of chromosomal mosaicism. LC\u2010GS demonstrated high concordance with CMA in aneuploidy, CNVs, ROH, and chromosomal mosaicism, achieving a diagnostic yield of 21% (42\/200), with additional benefits of reduced cost. Moreover, LC\u2010GS outperformed CMA in terms of resolution for identifying submicroscopic CNVs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>LC\u2010GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6840","type":"journal-article","created":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T00:39:28Z","timestamp":1751675968000},"page":"1525-1538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Prospective Evaluation of the Diagnostic Utility for Low\u2010Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9134-3559","authenticated-orcid":false,"given":"Yan","family":"Yin","sequence":"first","affiliation":[{"name":"The Center of Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxia","family":"He","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun","family":"Chen","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"He","sequence":"additional","affiliation":[{"name":"The Department of Obstetric and Gynecologic Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Wang","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9391-890X","authenticated-orcid":false,"given":"Shengfang","family":"Qin","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital\/The Affiliated Women's and Children's Hospital of Chengdu Medical College  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongna","family":"Wang","sequence":"additional","affiliation":[{"name":"Becreative Lab Co. 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