{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:51Z","timestamp":1753861791844,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Few cases of prenatal screening and diagnosis for <jats:italic>NFIA<\/jats:italic>\u2010related disorders (OMIM # 613735) have been reported. Noninvasive prenatal testing (NIPT) has been extensively utilized for the screening of fetal chromosomal abnormalities. Here, we report a case of prenatal diagnosis of an <jats:italic>NFIA<\/jats:italic>\u2010related disorder following the NIPT result. A 24\u2010year\u2010old pregnant woman chose expanded noninvasive prenatal testing (NIPT\u2010plus) for screening fetal chromosomal abnormalities at 19\u2009weeks and 5\u2009days of gestation with a singleton pregnancy. The results of NIPT\u2010plus revealed a 0.9\u2009Mb deletion in chromosome 1p31.3, including the <jats:italic>NFIA<\/jats:italic> gene, which was confirmed after amniocentesis using copy number variation sequencing. At 24\u2009weeks of gestation, ultrasound observations revealed that there was an enlargement in the occipitofrontal diameter, protrusion of the forehead, anterior rotation of the nasal passages, and a shortened nasal bone. These phenotypic manifestations observed were consistent with the deletion of the <jats:italic>NFIA<\/jats:italic> gene. After being informed of the associated risks of this syndrome, the pregnant woman and her family decided to terminate the pregnancy at 26<jats:sup>+4<\/jats:sup> weeks of gestation. We presented the first case of prenatal diagnosis of <jats:italic>NFIA\u2010<\/jats:italic>related disorder following the results of NIPT. NIPT could provide insights at earlier gestational stages than ultrasound for screening <jats:italic>NFIA<\/jats:italic>\u2010related disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.64029","type":"journal-article","created":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T22:15:36Z","timestamp":1740608136000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Prenatal Diagnosis of <scp><i>NFIA<\/i><\/scp>\u2010Related Disorder Indicated by Noninvasive Prenatal Testing"],"prefix":"10.1002","volume":"197","author":[{"given":"Ganye","family":"Zhao","sequence":"first","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaozhe","family":"Yang","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Fertility Protection and Aristogenesis Luohe Central Hospital  Luohe China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetics and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201000938\u20105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122249"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2011.07.014"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.004"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2024.104983"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6580"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6562"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.955694"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.14958"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38460"},{"volume-title":"GeneReviews(\u00ae)","year":"2019","author":"Senaratne T. 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