{"id":"https://openalex.org/W2104198540","doi":"https://doi.org/10.1016/j.ajog.2012.10.731","title":"565: Predictors of carrier screening for Fragile X syndrome","display_name":"565: Predictors of carrier screening for Fragile X syndrome","publication_year":2012,"publication_date":"2012-12-27","ids":{"openalex":"https://openalex.org/W2104198540","doi":"https://doi.org/10.1016/j.ajog.2012.10.731","mag":"2104198540"},"language":"en","primary_location":{"id":"doi:10.1016/j.ajog.2012.10.731","doi":"https://doi.org/10.1016/j.ajog.2012.10.731","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ajog.2012.10.731","pdf_url":null,"source":{"id":"https://openalex.org/S122347013","display_name":"American Journal of Obstetrics and Gynecology","issn_l":"0002-9378","issn":["0002-9378","1085-8709","1097-6868"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Obstetrics and Gynecology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017451505","display_name":"Angie Child Jelin","orcid":"https://orcid.org/0000-0002-1792-4029","observed_orcids":["https://orcid.org/0000-0002-1792-4029"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210110664","display_name":"University of California San Francisco Medical Center","ror":"https://ror.org/01t8svj65","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210110664"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angie Jelin","raw_affiliation_strings":["UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210110664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050203379","display_name":"Sanae Nakagawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210110664","display_name":"University of California San Francisco Medical Center","ror":"https://ror.org/01t8svj65","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210110664"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sanae Nakagawa","raw_affiliation_strings":["UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210110664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057446343","display_name":"Sherri Pena","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210110664","display_name":"University of California San Francisco Medical Center","ror":"https://ror.org/01t8svj65","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210110664"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sherri Pena","raw_affiliation_strings":["UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210110664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108791736","display_name":"Mari-Paule Thiet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210110664","display_name":"University of California San Francisco Medical Center","ror":"https://ror.org/01t8svj65","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210110664"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mari-Paule Thiet","raw_affiliation_strings":["UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210110664"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086537473","display_name":"Miriam Kuppermann","orcid":"https://orcid.org/0000-0002-8074-6923","observed_orcids":["https://orcid.org/0000-0002-8074-6923"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210110664","display_name":"University of California San Francisco Medical Center","ror":"https://ror.org/01t8svj65","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210110664"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Miriam Kuppermann","raw_affiliation_strings":["UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCSF, Obstetrics, Gynecology and Reproductive Endocrinology, San Francisco, CA","institution_ids":["https://openalex.org/I180670191","https://openalex.org/I4210110664"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5410,"currency":"USD","value_usd":5410},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.18896466,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"208","issue":"1","first_page":"S242","last_page":"S242"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9312000274658203,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9312000274658203,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.058400001376867294,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9829999804496765},{"id":"https://openalex.org/keywords/carrier-screening","display_name":"carrier screening","score":0.949999988079071},{"id":"https://openalex.org/keywords/prenatal-testing","display_name":"prenatal testing","score":0.6320000290870667},{"id":"https://openalex.org/keywords/pregnant-women","display_name":"pregnant women","score":0.7739999890327454},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.5789999961853027},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8220000267028809},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.6610000133514404},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.8050000071525574}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8824028372764587},{"id":"https://openalex.org/C2776555163","wikidata":"https://www.wikidata.org/wiki/Q1076497","display_name":"Chorionic villus sampling","level":5,"score":0.7735580205917358},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.6921417117118835},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.5802003741264343},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.5323202013969421},{"id":"https://openalex.org/C151956035","wikidata":"https://www.wikidata.org/wiki/Q1132755","display_name":"Logistic regression","level":2,"score":0.505624532699585},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.502286434173584},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.4820328950881958},{"id":"https://openalex.org/C2776352029","wikidata":"https://www.wikidata.org/wiki/Q4686351","display_name":"Advanced maternal age","level":4,"score":0.4184263050556183},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.410478413105011},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3991831839084625},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.3943777084350586},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.3691100776195526},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3278294801712036},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15823352336883545},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.1469261348247528},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.07727310061454773},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ajog.2012.10.731","doi":"https://doi.org/10.1016/j.ajog.2012.10.731","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ajog.2012.10.731","pdf_url":null,"source":{"id":"https://openalex.org/S122347013","display_name":"American Journal of Obstetrics and Gynecology","issn_l":"0002-9378","issn":["0002-9378","1085-8709","1097-6868"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Obstetrics and Gynecology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.6399999856948853,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2412017984","https://openalex.org/W4298724328","https://openalex.org/W2078626177","https://openalex.org/W2401500006","https://openalex.org/W4244470248","https://openalex.org/W1976498468","https://openalex.org/W2016360149","https://openalex.org/W2096825893","https://openalex.org/W2049899708","https://openalex.org/W2012088271"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-03T13:16:28.481748","created_date":"2025-10-10T00:00:00"}