{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:17:31Z","timestamp":1787008651700,"version":"build-2736575974"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T00:00:00Z","timestamp":1771459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016939","name":"Myriad Genetics, Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016939","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The provision of prenatal genetic screening in 3 core clinical contexts\u2014recessive conditions, aneuploidy, and serological incompatibility\u2014involves multiple tests across reproductive partners. This complexity limits utilization and impairs adherence to guideline-recommended care, particularly in carrier screening, where male partners are frequently not tested when a female carrier is identified. Here, we describe the analytical validation of a fetomaternal integrated recessive, serological, and trisomy genetic screen (FIRSTGENE), a single assay that harnesses in silico fragment-length trajectory analysis to evaluate all 3 contexts simultaneously, identifying clinically relevant variants in both the mother and the fetus without requiring a paternal sample.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>FIRSTGENE screens singleton pregnancies for mutations in 20 recessive genes; RhD compatibility; aneuploidies in chromosomes 13, 18, 21, X, and Y; and 22q11.2 microdeletion. Each part of the test was individually validated using a relevant subset of plasma samples from a curated collection (478 total samples from 456 patients) and 93 cell-line mixtures digested to resemble maternal and fetal cell-free DNA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>FIRSTGENE demonstrated \u226598.2% sensitivity and \u226599.0% specificity for fetal alleles in recessive-disease genes in plasma and cell lines; 100% sensitivity and specificity for RhD compatibility in plasma; 100% sensitivity and \u226599.8% specificity for fetal chromosomal abnormalities in plasma; and \u226599.9% sensitivity and specificity for maternal alleles in recessive-disease genes in plasma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>FIRSTGENE demonstrated high analytical sensitivity and analytical specificity for each component of the assay. Its capability to generate multiple prenatal screening results from a single blood draw may improve the efficiency and accessibility of prenatal genetic screening.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/clinchem\/hvag005","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T12:27:28Z","timestamp":1768307248000},"page":"679-691","source":"Crossref","is-referenced-by-count":1,"title":["Simultaneous Prenatal cfDNA Screening of Aneuploidy, Recessive Single-Gene Conditions, and Fetomaternal Blood Compatibility"],"prefix":"10.1093","volume":"72","author":[{"given":"Juexiao Sherry","family":"Wang","sequence":"first","affiliation":[{"name":"Myriad Genetics , Salt Lake City, UT ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"Battey","sequence":"additional","affiliation":[{"name":"Myriad Genetics , Salt Lake City, UT ,","place":["United 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