胎儿先天性畸形的诊治
Diagnosis and treatment of fetal congenital malformation
Received date: 2022-10-09
Online published: 2023-02-16
先天性畸形是导致婴幼儿死亡和先天残疾的主要原因之一，严重影响儿童生存和生活质量。随着医学影像学、临床遗传学和分子生物学等产前诊断技术的快速发展,越来越多的胎儿先天性畸形可在妊娠期得以筛查和诊断。部分胎儿先天性畸形在宫内迅速恶化,且出生后缺乏有效的治疗方法,预后较差。胎儿宫内治疗能有效阻止胎儿疾病恶化所导致的不可逆性胎儿损伤或死亡,为产后治疗创造有利条件。对胎儿先天性畸形做出尽可能精准的诊断和评估，进行有效预防和早期干预，有望降低出生时死亡率，改善患儿预后，提高生命质量。文章从宫内胎儿先天性畸形诊治的发展、宫内胎儿结构畸形的临床诊治概念和常见宫内胎儿结构畸形诊治的临床应用等三方面进行阐述，以期为临床开展相关工作提供参考。
王俊 . 胎儿先天性畸形的诊治[J]. 临床儿科杂志, 2023 , 41(1) : 11 -17 . DOI: 10.12372/jcp.2023.22e1345
Congenital malformation is one of the main causes of death and congenital disability in infants and children, which seriously affects the survival and life quality of children. With the remarkable development of prenatal diagnostic techniques, such as medical imaging, clinical genetics, and molecular biology, more and more fetal congenital malformations can be screened and diagnosed during pregnancy. Some fetal congenital malformations deteriorate rapidly in utero, and there is a lack of effective treatment after birth, so the prognosis is poor. Intrauterine fetal therapy can prevent the irreversible damage or death caused by the deterioration of congenital malformation and create conditions for postpartum treatment. Accurate diagnosis and evaluation of congenital malformations, effective prevention and early intervention are expected to reduce mortality and improve the prognosis and the quality of life. In this paper, the development of diagnosis and treatment of intrauterine fetal congenital malformations, the concept of clinical diagnosis and treatment of intrauterine fetal structural malformations and the clinical application of common intrauterine fetal structural malformations will be elaborated in order to provide reference for clinical work.
Key words： congenital malformation; birth defect; fetal; surgery
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