{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T06:57:28Z","timestamp":1777532248206,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["5T32GM067553"],"award-info":[{"award-number":["5T32GM067553"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["F30HD101228"],"award-info":[{"award-number":["F30HD101228"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["K23HD088742"],"award-info":[{"award-number":["K23HD088742"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Sequencing cell\u2010free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ultimately improving the management of rare genetic disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>As a pilot study, we performed exome sequencing on the cell\u2010free DNA from three mothers with singleton pregnancies to assess the viability of broad sequencing modalities in a noninvasive prenatal setting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found poor resolution of maternal and fetal genotypes due to both sampling and technical issues.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6009","type":"journal-article","created":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T19:51:15Z","timestamp":1626378675000},"page":"567-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3443-5315","authenticated-orcid":false,"given":"Dayne L.","family":"Filer","sequence":"first","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"},{"name":"Renaissance Computing Institute  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr A.","family":"Mieczkowski","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Brandt","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly L.","family":"Gilmore","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\u00a0&amp; Gynecology School of Medicine UNC Chapel Hill  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradford C.","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"},{"name":"Renaissance Computing Institute  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan S.","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk C.","family":"Wilhelmsen","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"},{"name":"Renaissance Computing Institute  Chapel Hill NC USA"},{"name":"Department of Neurology School of Medicine UNC Chapel Hill  Chapel Hill NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2504-9455","authenticated-orcid":false,"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Medicine UNC Chapel Hill  Chapel Hill NC USA"},{"name":"Department of Obstetrics\u00a0&amp; 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