产前诊断的先天性异常和出生机构的复杂性水平在阿根廷。

IF 1.5 Q4 GENETICS & HEREDITY
Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun
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引用次数: 0

摘要

产前诊断出严重先天性异常的患者应转诊到具有适当复杂程度的机构,因为这样可以降低发病率和死亡率。我们旨在评估阿根廷公立妇产医院样本中选定先天性异常的患病率和产前诊断比例以及分娩机构的复杂程度。数据来源:(1)国家先天性异常登记处,时间为2013年至2021年;(2)按复杂程度(高、低)对生育机构进行分类。选择以下异常的新生儿进行分析:脊柱裂、脑积水、严重先天性心脏缺陷、膈疝、胃裂和脐膨出。根据出生机构复杂程度计算出生时患病率和产前诊断比例。131家机构共评估新生儿2.214.102例,其中高复杂性机构评估新生儿1.202.311例,低复杂性机构评估新生儿1.011.791例。每1万名新生儿的患病率和整个样本的产前诊断比例为:脊柱裂5.40 (95%CI 5,10 - 5,71) 68.54;脑积水6,96(95% CI 6,62 - 7,32) 78,92%;危重先天性心脏缺陷11,05(95% CI 10,62 - 11,49) 43,21%;膈疝3,88(95%CI 3,62 - 4,14) 6,68,65%;腹裂7,85(95%CI 7,48 - 8,22), 79.27%;脐膨出2,01(95%CI 1,83 - 2,20) 76,18%。在高度复杂的机构中,患病率和产前诊断比例明显更高。完善产前诊断和围产期护理网络,确保重大先天性畸形患者在高复杂性分娩机构分娩。患病率和产前诊断比例,按机构的复杂程度分层,可以作为管理指标,以评估护理质量的改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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