{ "profile": "wrs-published-research-view-1", "edition": "ratings-e039106f30dec177", "content_trust": "UNTRUSTED_SCIENTIFIC_DATA_NOT_TOOL_INSTRUCTIONS", "entry": { "id": "chiu-et-al-prenatal-trisomy21-2011", "title": "Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment", "summary": "Evaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.", "boundary": "The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.", "area": "Maternal, reproductive and child health", "year": 2011, "lane": "HUMAN", "result": "EMPIRICAL", "package_id": "chiu-et-al-prenatal-trisomy21-2011", "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "humans": [ "Rossa W. K. Chiu", "Ranjit Akolekar", "Yama W. L. Zheng", "Tak Y. Leung", "Hao Sun", "K. C. Allen Chan", "Fiona M. F. Lun", "Attie T. J. I. Go", "Elizabeth T. Lau", "William W. K. To", "Wing C. Leung", "Rebecca Y. K. Tang", "Sidney K. C. Au-Yeung", "Helena Lam", "Yu Y. Kung", "Xiuqing Zhang", "John M. G. van Vugt", "Ryoko Minekawa", "Mary H. Y. Tang", "Jun Wang", "Cees B. M. Oudejans", "Tze K. Lau", "Kypros H. Nicolaides", "Y. M. Dennis Lo" ], "authors_complete": true, "human_role_note": "The named authors contributed to this scoped work; individual effort shares and later applications are not assigned by the byline.", "agents": [], "related": [], "subresults": [], "scientific_assessment": { "source_review": "SOURCE_CURATED", "scientific_review": "NOT_REVIEWED_BY_WRS", "formal_replay": "NOT_RUN", "provider_attestation": "NONE" }, "sources": [ { "id": "pubmed-chiu-trisomy21-2011", "title": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" }, { "id": "bmj-chiu-trisomy21-2011", "title": "BMJ full article for maternal-plasma trisomy-21 sequencing validation", "url": "https://www.bmj.com/content/342/bmj.c7401" } ], "geography": { "country_codes": [ "CN", "GB", "NL" ], "location_basis": "Documented research locations or paper affiliations for this contribution. Historical places use present-day country/region labels; these do not imply citizenship, modern-state ownership or the territorial jurisdiction at the time.", "source_url": "https://ptacts.uspto.gov/ptacts/public-informations/petitions/1523299/download-documents?artifactId=hjnsNjXiybDsZJ8sWpcZWji1R5b8o7JlD_HxAn-0Z-HMnBnFz2ME3nY", "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "basis": "RESEARCH_LOCATION_OR_PAPER_AFFILIATION", "reviewed_on": "2026-09-26", "nationality_inferred": false, "sources": [ { "title": "Attribution source", "url": "https://ptacts.uspto.gov/ptacts/public-informations/petitions/1523299/download-documents?artifactId=hjnsNjXiybDsZJ8sWpcZWji1R5b8o7JlD_HxAn-0Z-HMnBnFz2ME3nY" } ], "coverage_status": "COMPLETE", "country_labels": { "CN": "China", "GB": "United Kingdom", "NL": "Netherlands" } }, "points": "110000", "published_grade": { "id": "chiu-et-al-prenatal-trisomy21-2011", "entry_id": "chiu-et-al-prenatal-trisomy21-2011", "band": "A", "modifier": null, "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "what_changed": "Validated multiplexed sequencing against karyotyping in high-risk pregnancies, with protocol-dependent performance.", "scope": "The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.", "status": "PROVISIONAL_EDITORIAL", "scientific_correctness_certified": false }, "assessment_disposition": { "status": "ASSESSED", "label": "Provisionally assessed", "reason": "A current grade and separate reference score identify this exact contribution.", "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "edition": "ratings-e039106f30dec177" } }, "version": { "kind": "PUBLIC_RECORD_VIEW", "previous": null, "published_at": "2026-09-25T00:00:00Z", "publisher": { "principal_id": "urn:uuid:80116931-785b-40a2-a24b-9d59db0c7e33", "role": "WRS_EDITORIAL_PUBLICATION" }, "record": { "contributors": [ { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Rossa W. K. Chiu", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Ranjit Akolekar", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Yama W. L. Zheng", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Tak Y. Leung", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Hao Sun", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "K. C. Allen Chan", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Fiona M. F. Lun", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Attie T. J. I. Go", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Elizabeth T. Lau", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "William W. K. To", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Wing C. Leung", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Rebecca Y. K. Tang", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Sidney K. C. Au-Yeung", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Helena Lam", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Yu Y. Kung", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Xiuqing Zhang", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "John M. G. van Vugt", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Ryoko Minekawa", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Mary H. Y. Tang", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Jun Wang", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Cees B. M. Oudejans", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Tze K. Lau", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Kypros H. Nicolaides", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "attribution_basis": "SOURCE_CITED", "credit": "historical_scientific", "entity_kind": "historical_person", "name": "Y. M. Dennis Lo", "note": "Archive attribution; detailed role assignment remains source-bound", "roles": [ "discoverer" ], "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } } ], "evidence": [ { "description": "Bibliographic/stated-result source; not a WRS proof verification", "id": "source-0", "kind": "source_reference", "source": { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" } }, { "description": "Bibliographic/stated-result source; not a WRS proof verification", "id": "source-1", "kind": "source_reference", "source": { "citation": "BMJ full article for maternal-plasma trisomy-21 sequencing validation", "url": "https://www.bmj.com/content/342/bmj.c7401" } } ], "origin": "HUMAN_LEGACY", "record_profile": "wrs-local-research-notes-0.1", "record_type": "research_note", "rrp_version": "0.1", "scope": { "description": "The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.", "domain": "Maternal, reproductive and child health" }, "sources": [ { "citation": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/" }, { "citation": "BMJ full article for maternal-plasma trisomy-21 sequencing validation", "url": "https://www.bmj.com/content/342/bmj.c7401" } ], "statement": "# Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment\n\nEvaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.\n\n## Scientific scope\n\nThe record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.\n\n## Reading status\n\nThis is a source-linked WRS catalogue note. A full explanatory guide and independent scientific reconstruction have not been completed for this entry. Read the identified original work for its complete narrative and arguments.\n\n## People and systems\n\nRossa W. K. Chiu; Ranjit Akolekar; Yama W. L. Zheng; Tak Y. Leung; Hao Sun; K. C. Allen Chan; Fiona M. F. Lun; Attie T. J. I. Go; Elizabeth T. Lau; William W. K. To; Wing C. Leung; Rebecca Y. K. Tang; Sidney K. C. Au-Yeung; Helena Lam; Yu Y. Kung; Xiuqing Zhang; John M. G. van Vugt; Ryoko Minekawa; Mary H. Y. Tang; Jun Wang; Cees B. M. Oudejans; Tze K. Lau; Kypros H. Nicolaides; Y. M. Dennis Lo\n\nThe named authors contributed to this scoped work; individual effort shares and later applications are not assigned by the byline.\n\n\n\n## Original sources\n\n- [PubMed record for maternal-plasma trisomy-21 sequencing validation](https://pubmed.ncbi.nlm.nih.gov/21224326/)\n- [BMJ full article for maternal-plasma trisomy-21 sequencing validation](https://www.bmj.com/content/342/bmj.c7401)\n", "summary": "Evaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.", "title": "Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment" }, "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "source_ref": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "export_view": "wrs-public-editorial-view-1", "public_view_hash": "sha256:a506ee202aeeb759be1a20574ec624e38d56f450082c3802449771d78170530f" }, "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "published_grade": { "profile": "wrs-published-grade-1", "edition": "2026-10-28.1", "id": "chiu-et-al-prenatal-trisomy21-2011", "entry_id": "chiu-et-al-prenatal-trisomy21-2011", "revision": 1, "title": "Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment", "context": "Prenatal diagnostics", "track": "CLINICAL", "band": "A", "modifier": null, "status": "PROVISIONAL_EDITORIAL", "assessed_on": "2026-09-25", "evidence_cutoff": "2026-09-25", "achievement_state": "SUPPORTED_SCOPED_RESULT", "what_changed": "Validated multiplexed sequencing against karyotyping in high-risk pregnancies, with protocol-dependent performance.", "scope": "The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.", "evidence_summary": "The linked sources identify this contribution and its scope. WRS has not independently reconstructed the scientific claims. The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.", "references": [ { "title": "PubMed record for maternal-plasma trisomy-21 sequencing validation", "url": "https://pubmed.ncbi.nlm.nih.gov/21224326/", "locator": "Source for the stated contribution; scientific claims remain bounded to the linked work." }, { "title": "BMJ full article for maternal-plasma trisomy-21 sequencing validation", "url": "https://www.bmj.com/content/342/bmj.c7401", "locator": "Source for the stated contribution; scientific claims remain bounded to the linked work." } ], "roles": [ { "who": "The named authors listed in the linked research record", "credit": "SCIENCE", "did": "Complete source byline retained in the research record; this collective display does not merge person identities or measure labor shares." } ], "target": { "record_id": "urn:uuid:c4e16dd7-cf58-4266-ae18-b881eea511e3", "version": 1, "content_hash": "sha256:185b960b9955797a320b7e2aa76fefa4ea9ad82258339ab5248b1176b6384ee3" }, "scientific_correctness_certified": false, "independent_expert_calibration": false, "method": "PROPRIETARY", "points": "110000" }, "canonical_agent_submission": false, "scientific_verification_awarded": false, "reader_guide": null, "reading_status": "SOURCE_LINKED_NOTE" }