{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:53:50Z","timestamp":1790394830302,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T00:00:00Z","timestamp":1407283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a severe autosomal recessive genetic disease that occurs in about one in every 10\u2009000 births. Prenatal carrier testing is available for SMA, and the utility of universal screening is actively debated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to perform a systematic review and meta\u2010analysis of SMA genotype frequency, carrier frequency, and carrier test performance in different ethnic groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a systematic review of the literature for studies on SMA carrier screening test performance. Ethnicity\u2010specific allele frequencies, carrier rates, and screening test performance were determined from data of 169\u2009000 individuals in 14 published studies. Pooled estimates were calculated for each ethnic group using a random effects meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The detection rate of SMA screening in the non\u2010Black population was 87\u201395%; however, detection rates fell to 71% among the Black population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results highlight that although SMA carrier testing generally performs well and could be considered as a routine prenatal screen, SMA testing should be used cautiously in the Black population. \u00a9 2014 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4459","type":"journal-article","created":{"date-parts":[[2014,7,24]],"date-time":"2014-07-24T08:01:46Z","timestamp":1406188906000},"page":"1219-1226","source":"Crossref","is-referenced-by-count":33,"title":["SMA carrier testing: a meta\u2010analysis of differences in test performance by ethnic group"],"prefix":"10.1002","volume":"34","author":[{"given":"William Kim","family":"MacDonald","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Dalhousie University  Halifax NS Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Statistics Dalhousie University  Halifax NS Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Kuhle","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Dalhousie University  Halifax NS Canada"},{"name":"Department of Pediatrics Dalhousie University  Halifax NS Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.11.012"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181a6d03a"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318188d069"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318220d523"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201288"},{"key":"e_1_2_6_12_1","unstructured":"R Core Team.2013. 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