How can the process of postnatal adaptation be changed by the presence of congenital abnormalities of lip and palate.

Q3 Environmental Science
Interdisciplinary Toxicology Pub Date : 2017-12-01 Epub Date: 2018-03-01 DOI:10.1515/intox-2017-0024
Ingrid Brucknerová, Michal Dubovický, Eduard Ujházy
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引用次数: 1

Abstract

Despite modern approaches in molecular biology and genetics, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases is referred to as "multifactorial". Detailed prenatal investigation of the fetus can discover the presence of congenital abnormality, which can worsen the process of postnatal adaptation. Retrospective analysis of newborns admitted to the Neonatal Department of Intensive Medicine (NDIM) in 2012-2016 with the aim to analyze how the process of postnatal adaptation can be changed by the presence of congenital abnormalities of lip and palate. During a five-year period, 13 newborns were admitted to NDIM (2 premature; 11 term newborns). Chromosomal abnormality was confirmed in one patient (Down syndrome) and in one patient suspicion of Patau syndrome was found. Twelve newborns had complete cheilognathopalatoschisis. Two premature newborns and two term newborns had perinatal asphyxia. In this group of patients, 33% had respiratory insufficiency without the presence of congenital heart abnormality, 66% had congenital heart abnormality with respiratory insufficiency, and 2 patients had feeding problems. Only one patient had a positive family history. The diagnosis of complete cheilognathopalatoschisis was confirmed prenatally only in 9 patients. We confirmed that clinical consequences of congenital abnormalities of lip and palate depend on the nature, localization and range of abnormalities, as well as on the genetic background and accompanying congenital abnormalities. Prenatal confirmation of the presence of congenital abnormalities has an important influence on the postnatal management of a patient.

出生后的适应过程是如何被先天的唇腭裂畸形所改变的?
尽管有分子生物学和遗传学的现代方法,我们仍然无法确定50%以上的先天性缺陷的实际原因。一半的不明病例被称为“多因素”。对胎儿进行详细的产前检查可以发现胎儿是否存在先天性异常,这可能会使出生后的适应过程恶化。回顾性分析2012-2016年新生儿重症医学科(NDIM)收治的新生儿,目的是分析先天性唇腭裂异常如何改变出生后的适应过程。在5年期间,13名新生儿入院NDIM(2名早产儿;11个足月新生儿)。1例确诊为唐氏综合征,1例怀疑为帕托综合征。12例新生儿有完全性舌裂。2例早产儿和2例足月新生儿发生围产期窒息。本组患者中,33%有呼吸功能不全,无先天性心脏异常,66%有先天性心脏异常伴呼吸功能不全,2例有进食问题。只有一名患者有阳性家族史。只有9例患者在产前确诊为完全性唇腭裂。我们证实先天性唇腭裂的临床后果取决于异常的性质、部位和范围,以及遗传背景和伴随的先天性异常。产前确认先天性异常的存在对患者的产后管理有重要影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Interdisciplinary Toxicology
Interdisciplinary Toxicology Pharmacology, Toxicology and Pharmaceutics-Pharmacology
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