{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T06:05:56Z","timestamp":1780380356207,"version":"3.54.1"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671470"],"award-info":[{"award-number":["81671470"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Five pregnant women with a child affected by spinal muscular atrophy (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>) were recruited between November 2014 and March 2015. Deletion of exons 7 and\/or 8 in the <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> gene were identified by multiplex ligation\u2010dependent probe amplification (<jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>), the current standard diagnostic test for <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>. Parental and fetal haplotypes of the <jats:italic><jats:styled-content style=\"fixed-case\">SMN1<\/jats:styled-content><\/jats:italic> gene  were determined in each family from haplotype\u2010based non\u2010invasive testing of blood samples and maternal plasma, respectively. Fetal haplotype was compared with the results of <jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content> of fetal <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> obtained from amniotic fluid or chorionic villi. Parental haplotypes were constructed successfully in the five families. Assisted by the information on parental haplotype, non\u2010invasive testing of maternal plasma identified one fetus with homozygous deletion of exons 7 and 8, two fetuses with heterozygous deletion of exons 7 and 8 and two normal fetuses. These results were consistent with the diagnosis by <jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>. Copyright \u00a9 2016 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p>","DOI":"10.1002\/uog.15947","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T21:49:53Z","timestamp":1461361793000},"page":"799-802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Targeted sequencing of maternal plasma for haplotype\u2010based non\u2010invasive prenatal testing of spinal muscular atrophy"],"prefix":"10.1002","volume":"49","author":[{"given":"M.","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics &amp; Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lu","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. F.","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics &amp; Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Chen","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"},{"name":"Tianjin Translational Genomics Center, BGI\u2010Tianjin  Tianjin China"},{"name":"Binhai Genomics Institute, BGI\u2010Tianjin  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou China"},{"name":"Obstetrics &amp; Gynecology Institute of Guangzhou  Guangzhou China"},{"name":"The Medical Centre for Critical Pregnant Women in Guangzhou  Guangzhou China"},{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Yuan","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"},{"name":"Tianjin Translational Genomics Center, BGI\u2010Tianjin  Tianjin China"},{"name":"Binhai Genomics Institute, BGI\u2010Tianjin  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. S.","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"},{"name":"Tianjin Translational Genomics Center, BGI\u2010Tianjin  Tianjin China"},{"name":"Binhai Genomics Institute, BGI\u2010Tianjin  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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