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唇腭裂的产前诊断:一项回顾性研究。

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

作者信息

Brăila Anca Daniela, Damian Constantin Marian, Albu Cristina-Crenguţa, Botoacă Oana, Dȋră Laurențiu Mihai, Albu Ştefan-Dimitrie, Brăila Matei Georgian, Bănățeanu Andreea-Mariana, Poalelungi Cristian-Viorel, Bogdan-Andreescu Claudia Florina

机构信息

Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.

Department of Genetics, Faculty of Dentistry, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

出版信息

J Clin Med. 2024 Aug 15;13(16):4804. doi: 10.3390/jcm13164804.

Abstract

Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. : This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. : This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. : Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). : A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.

摘要

唇腭裂是常见的先天性畸形。早期准确诊断有助于进行恰当的病例管理。:这项回顾性队列研究旨在调查唇腭裂与其他先天性畸形之间的关联。:本研究分析了17例产前诊断为唇腭裂的妊娠病例。检查包括超声检查、通过羊膜穿刺术进行胎儿核型分析以及家族谱系分析。若胎儿核型异常,也会检测父母的核型。:在确诊的17例病例中,9例(52.94%)为综合征型,8例(47.06%)为非综合征型。本研究中与唇腭裂相关的遗传综合征包括易位综合征(1例)、帕陶综合征、13三体综合征(7例)以及爱德华兹综合征、嵌合型18三体综合征(1例)。:综合方法可确保全面评估和准确诊断。早期检测和多学科方法有助于进行恰当的病例管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b458/11355850/cc45a86f637b/jcm-13-04804-g001.jpg

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