{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T21:50:26Z","timestamp":1767649826843,"version":"3.41.0"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T00:00:00Z","timestamp":1738281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100016305","name":"First Affiliated Hospital of Zhengzhou University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100016305","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":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal diagnosis (NIPD) is an early, safe, and accurate method. This study aimed to evaluate the NIPD of CAH while guiding individualized intrauterine treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty families with a 25% risk of having a baby with 21\u2010hydroxylase deficiency (21\u2010OHD) were included. Haplotypes were constructed based on targeted sequencing and family linkage analysis. Relative haplotype dosage (RHDO) combined with Bayes factor was used to infer fetal genotypes. Invasive prenatal diagnosis was performed to verify the reliability of NIPD. For affected\u2010female fetuses, intrauterine treatment was applied until delivery.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 20 families, NIPD successfully identified one female\u2010affected fetus, four male\u2010affected fetuses, nine heterozygotes, and five normal fetuses. The first\u2010pass success rate of NIPD was 90% (18\/20), the reporting rate was 95% (19\/20), and the accuracy was 100% (19\/19). Individualized intrauterine treatment avoided 88.9% (8\/9) of unnecessary treatment of unaffected female fetuses. Moreover, no significant virilization was observed in the newborn of CAH16, which underwent intrauterine treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>NIPD has far\u2010reaching implications for the early treatment and clinical management of pregnancy in families with 21\u2010OHD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6747","type":"journal-article","created":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T05:18:52Z","timestamp":1738387132000},"page":"423-432","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4322-914X","authenticated-orcid":false,"given":"Xinyu","family":"Fu","sequence":"first","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjie","family":"Xia","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaojun","family":"Li","sequence":"additional","affiliation":[{"name":"Research and Development Department Celula (China) Medical Technology Co., Ltd.  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenhua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6432-1100","authenticated-orcid":false,"given":"Lingrong","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center Shanghai First Maternity and Infant Hospital School of Medicine Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8268-3365","authenticated-orcid":false,"given":"Jingqi","family":"Zhu","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanyun","family":"Li","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shitong","family":"Wu","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[{"name":"Research and Development Department Celula (China) Medical Technology Co., Ltd.  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0030-7638","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,31]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2023.100616"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.624507"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(17)31431\u20109"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvae023"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6542"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa016"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2841"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab016"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2346014.007"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20353"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2018.11.041"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje\u201021\u20100554"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(97)02174\u20100"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864\u2010024\u201010267\u20105"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.22021"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc2216144"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010110821\u2010113411"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14434"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6458"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63560"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1785"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.13"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.791856"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014\u20101118"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.04.055"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201006828\u20102"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154\u2010022\u201009770\u20105"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(84)80310\u20108"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa611"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1543"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2016.06.011"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psyneuen.2018.02.033"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013\u20102895"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T01:55:21Z","timestamp":1749174921000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,31]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/pd.6747"],"URL":"https:\/\/doi.org\/10.1002\/pd.6747","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,1,31]]},"assertion":[{"value":"2024-07-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}