Brucknerová Ingrid, Dubovický Michal, Ujházy Eduard
Neonatal Department of Intensive Medicine, Medical Faculty, Comenius University, Bratislava and Children's Hospital, Bratislava, Slovakia.
Institute of Experimental Pharmacology and Toxicology, Slovak Academy of Sciences, Bratislava, Slovakia.
Interdiscip Toxicol. 2017 Dec;10(4):168-171. doi: 10.1515/intox-2017-0024. Epub 2018 Mar 1.
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.
尽管现代分子生物学和遗传学方法不断发展,但在所有先天性缺陷中,我们仍无法确定超过50%的实际病因。其中一半无法确定病因的病例被称为“多因素的”。对胎儿进行详细的产前检查可以发现先天性异常的存在,而这可能会使出生后适应过程恶化。对2012年至2016年入住新生儿重症医学科(NDIM)的新生儿进行回顾性分析,旨在分析唇腭裂先天性异常的存在如何改变出生后适应过程。在五年期间,13名新生儿入住NDIM(2名早产儿;11名足月儿)。1例患者确诊染色体异常(唐氏综合征),1例患者疑似帕陶综合征。12名新生儿患有完全性唇腭裂。2名早产儿和2名足月儿有围产期窒息。在这组患者中,33%有呼吸功能不全但无先天性心脏异常,66%有先天性心脏异常伴呼吸功能不全,2例有喂养问题。只有1例患者有阳性家族史。只有9例患者在产前确诊为完全性唇腭裂。我们证实,唇腭裂先天性异常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。产前确诊先天性异常的存在对患者的出生后管理有重要影响。