{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T18:04:05Z","timestamp":1789322645047,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23HD113824"],"award-info":[{"award-number":["K23HD113824"]}],"id":[{"id":"10.13039\/100000002","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":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Cell free DNA (cfDNA) screening for common aneuploidies is now widely integrated into prenatal care, and recent advances in next\u2010generation sequencing, enhanced by unique molecular indexing methodology, have enabled cfDNA for selected single\u2010gene disorders (cfDNA\u2010SGD). Commercially available cfDNA\u2010SGD panels target predominantly either de novo autosomal dominant or X\u2010linked conditions that have recognizable prenatal or neonatal phenotypes. However, it remains a screening modality that relies on placental cell\u2010free DNA, and encounters limitations. In this review, we summarize a currently available cfDNA\u2010SGD panel that screens for 25 autosomal or X\u2010linked dominant conditions corresponding to 30 unique genes, with several genes contributing to multiple conditions on the panel. We highlight the potentially associated prenatal and postnatal phenotypes and the imaging modalities that may help refine a prenatal genetic evaluation. We also discuss how ultrasound, fetal echocardiography, and fetal MRI across all trimesters can refine the prenatal differential diagnosis and help contextualize cfDNA\u2010SGD results, while emphasizing that imaging findings remain the primary guide for management and that confirmatory diagnostic testing is required before clinical decisions and action.<\/jats:p>","DOI":"10.1002\/pd.70204","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:41:17Z","timestamp":1782103277000},"page":"1508-1519","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Enhancing Prenatal Genetic Evaluation Through the\u00a0Combination of Single\u2010Gene Non\u2010Invasive Prenatal Screening and Prenatal Imaging"],"prefix":"10.1002","volume":"46","author":[{"given":"Sarah","family":"Araji","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Division of Maternal\u2010Fetal Medicine Texas Children's Hospital Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0385-1025","authenticated-orcid":false,"given":"Jennifer L.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Duke University  Durham North Carolina USA"},{"name":"Department of Obstetrics and Gynecology Duke University  Durham North Carolina USA"},{"name":"Department of Molecular Genetics and Microbiology Duke University  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.11.041"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e3182368a0e"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0b013e31824fb482"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0000000000000363"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4159"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ogx.0000000000000403"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmf2.70139"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5208"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010025\u201000893\u20109"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/13696998.2022.2053384"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5207"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010018\u20100334\u2010x"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2025.06.043"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6720"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.23756"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1311037"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4136"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs20210380"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001147\u20104"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2013.08.008"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc2307918"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc2216144"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.20517\/evcna.2022.44"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6351"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvae189"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6077"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a5468"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13359"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234\u2010007\u20100212\u20106"},{"key":"e_1_2_11_32_1","article-title":"Fetal 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