{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:29:42Z","timestamp":1791804582984,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of <jats:italic>LZTR1<\/jats:italic>\u2010related recessive NS. One case had a recurrent cystic hygroma at 13\u00a0weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12\u00a0weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester. The two infants were diagnosed with NS after birth. All of the three cases had invasive genetic investigations during pregnancy, and trio exome sequencing revealed biallelic likely pathogenic or pathogenic <jats:italic>LZTR1<\/jats:italic> variants in the fetuses. All parents were <jats:italic>LZTR1<\/jats:italic> variant carriers. Our report further strengthens the association of <jats:italic>LZTR1<\/jats:italic> with an autosomal recessive form of NS. The affected fetuses are more likely to have cardiac anomalies. Clarification of molecular diagnosis has important implications in these families because they carry a 25% recurrence risk.<\/jats:p>","DOI":"10.1002\/pd.6462","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T06:35:41Z","timestamp":1699425341000},"page":"1662-1665","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic <i>LZTR1<\/i> variants presented with thick nuchal translucency and cardiac abnormalities"],"prefix":"10.1002","volume":"43","author":[{"given":"Qiu\u2010Xia","family":"Yu","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Mei","family":"Lin","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Jing","family":"Wen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4583-6800","authenticated-orcid":false,"given":"Dong\u2010Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.249"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.119.044794"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010022\u201004574\u2010w"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103018"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13533"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rec.2019.05.002"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000502741"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy412"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/circgen.119.002690"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001093\u20107"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/340847"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21492"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2073"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6133"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6462","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T17:01:22Z","timestamp":1708621282000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,7]]},"references-count":15,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/pd.6462"],"URL":"https:\/\/doi.org\/10.1002\/pd.6462","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,7]]},"assertion":[{"value":"2023-08-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}