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先天性鱼鳞病产前诊断1例并文献复习
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Abstract:
目的：通过分析先天性鱼鳞病(congenital ichthyosis)的临床表现、体征、产前筛查资料、诊疗过程及妊娠结局，结合国内外文献，总结最新诊疗方法，进而提升对该疾病的认识，以及产前诊断水平。研究青岛大学附属医院收治的1例先天性鱼鳞病的临床表现以及诊断与治疗的经验，并对国内外文献进行回顾总结。结果：患者俞某，33岁，因“停经26周4天，发现胎儿畸形1天”就诊于我院产科，入院后完善相关辅助检查，建议终止妊娠，于2022-07-14行中孕引产术，术后送检羊水细胞及胎儿组织进行G显带染色体核型分析，荧光原位杂交(FISH)染色体数目检测及染色体微阵列分析(CMA)。结论：先天性鱼鳞病是一组具有显著临床异质性和遗传异质性的疾病，通常表现为局限性或广泛性的皮肤鳞屑、角化过度，伴或不伴红皮病，可伴有系统损害而出现相应的综合征，其发病机理为基因突变。
Objective: To analyze the clinical manifestations and signs of congenital ichthyosis, prenatal screening data, diagnosis and treatment process and prognosis, and read the latest literature, summarize the latest diagnosis and treatment methods, so as to improve the understanding of the disease and improve the level of prenatal diagnosis. Methods: The clinical characteristics and diag-nosis of the affiliated Hospital of Qingdao University were analyzed, and the domestic and foreign documents were reviewed. Results: Patient Yu, due to “menopause 26 weeks 4 days, found fetal malformation 1 day” admitted to hospital, improve related auxiliary examination, recommended pregnancy, in 2022-07-14 lines, postoperative test amniotic fluid cells and fetal tissue for G band chromosome karyotyping, chromosome number fluorescence in situ hybridization (FISH) detection and chromosome microarray analysis (CMA). Conclusion: Congenital ichthyosis is a group of genetic skin diseases with significant clinical heterogeneity and genetic heterogeneity, usually manifested as localized or extensive skin scaling, hyperkeratosis, with or without erythroderma, can be accom-panied by system damage and the corresponding syndrome, its pathogenesis is gene mutation.
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