{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T08:29:54Z","timestamp":1766219394245,"version":"3.48.0"},"reference-count":6,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2025-0012_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>This case aims to highlight the challenges healthcare providers and parents are faced with upon the emergence of fetal anomalies in the third trimester, emphasizing the pivotal role of trio exome sequencing in informed decision-making.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2025-0012_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 39\u202fyear old women, Gravida II para I, was referred at 30\u00a0+\u00a06\u202fweeks of gestation for suspected fetal growth restriction, oligohydramnios, and abnormal placental features. Initial scans had revealed fetal head measurements and cerebellum in the lower normal range. Following further investigation via amniocentesis, fetal MRI, and trio exome sequencing, a compound heterozygous QARS1 mutation was identified. This gene is crucial for brain development. The MRI at 34\u202fweeks confirmed microcephaly and abnormal gyration patterns corresponding to a development stage of 29\u202fweeks. Genetic counseling was provided to the parents, who ultimately decided on late termination of the pregnancy at 34\u00a0+\u00a05\u202fweeks. The process was managed with medical support, ensuring psychosomatic and pastoral care for the parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2025-0012_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case highlights the necessity for detailed and continuous prenatal assessments even amid initially mild fetal anomalies. The identification of the QARS1 mutation late in pregnancy underscores the potential impacts of rare genetic disorders on fetal development and necessitates comprehensive genetic counseling and ethical decision-making for parents and healthcare providers. This case emphasizes the critical role of advanced genetic testing in identifying conditions that significantly influence perinatal management and parental choices.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2025-0012","type":"journal-article","created":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T15:16:03Z","timestamp":1765466163000},"source":"Crossref","is-referenced-by-count":0,"title":["Third trimester diagnosis of a compound heterozygous QARS1 mutation based upon microcephaly and abnormal placenta"],"prefix":"10.1515","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3976-7028","authenticated-orcid":false,"given":"Max","family":"Hackel\u00f6er","sequence":"first","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9\u00a0\u2013\u00a0Universit\u00e4tsmedizin Berlin , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Vogt","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Women\u2019s Health , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4817-3368","authenticated-orcid":false,"given":"Josefine Theresia","family":"K\u00f6nigbauer","sequence":"additional","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9\u00a0\u2013\u00a0Universit\u00e4tsmedizin Berlin , Berlin , Germany"},{"name":"Prenatal Diagnosis and Women\u2019s Health , Berlin , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,12,11]]},"reference":[{"key":"2025122008251828885_j_crpm-2025-0012_ref_001","doi-asserted-by":"crossref","unstructured":"Kehl, S, D\u00f6tsch, J, Hecher, K, Schlembach, D, Schmitz, D, Stepan, H, et al.. Intrauterine growth restriction. guideline of the German society of gynecology and obstetrics (S2k-Level, AWMF Registry No. 015\/080, October 2024). Geburtsh Frauenheilk 2024;77:1157\u201373.","DOI":"10.1055\/s-0043-118908"},{"key":"2025122008251828885_j_crpm-2025-0012_ref_002","doi-asserted-by":"crossref","unstructured":"Poon, LC, Sahota, DS, Chaemsaithong, P, Nakamura, T, Machida, M, Naruse, K, et al.. Transvaginal three-dimensional ultrasound assessment of Sylvian fissures at 18-30\u00a0weeks\u2019 gestation. Ultrasound Obstet Gynecol 2019;54:190\u20138. https:\/\/doi.org\/10.1002\/uog.20172.","DOI":"10.1002\/uog.20172"},{"key":"2025122008251828885_j_crpm-2025-0012_ref_003","doi-asserted-by":"crossref","unstructured":"Pooh, RK, Machida, M, Nakamura, T, Uenishi, K, Chiyo, H, Itoh, K, et al.. Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development. Ultrasound Obstet Gynecol 2019;54:199\u2013206. https:\/\/doi.org\/10.1002\/uog.20171.","DOI":"10.1002\/uog.20171"},{"key":"2025122008251828885_j_crpm-2025-0012_ref_004","doi-asserted-by":"crossref","unstructured":"Johannesen, KM, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, AL, et al.. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol Genet 2019;5:e373. https:\/\/doi.org\/10.1212\/nxg.0000000000000373.","DOI":"10.1212\/NXG.0000000000000373"},{"key":"2025122008251828885_j_crpm-2025-0012_ref_005","doi-asserted-by":"crossref","unstructured":"Zhang, X, Ling, J, Barcia, G, Jing, L, Wu, J, Barry, BJ, et al.. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 2014;94:547\u201358. https:\/\/doi.org\/10.1016\/j.ajhg.2014.03.003.","DOI":"10.1016\/j.ajhg.2014.03.003"},{"key":"2025122008251828885_j_crpm-2025-0012_ref_006","unstructured":"Orphanet. QARS1. Orphanet. Updated 12.03.2025. Accessed 2025 May 23. Available from: https:\/\/www.orpha.net\/en\/disease\/detail\/404437?name=QARS1&mode=gene."}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0012\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0012\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T08:25:53Z","timestamp":1766219153000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0012\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,7,9]]},"published-print":{"date-parts":[[2025,1,29]]}},"alternative-id":["10.1515\/crpm-2025-0012"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2025-0012","relation":{},"ISSN":["2192-8959"],"issn-type":[{"type":"electronic","value":"2192-8959"}],"subject":[],"published":{"date-parts":[[2025,1,1]]},"article-number":"20250012"}}