Irish M S, Ragi J M, Karamanoukian H, Borowitz D S, Schmidt D, Glick P L
The Buffalo Institute of Fetal Therapy (BIFT), The Children's Hospital of Buffalo, Department of Surgery, State University of New York at Buffalo, School of Medicine and Biomedical Sciences, Buffalo, New York, USA.
Pediatr Surg Int. 1997 Jul;12(5-6):434-6. doi: 10.1007/BF01076961.
The sonographic finding of hyperechoic or dilated fetal bowel raises suspicion of a number of prenatal disorders including meconium ileus (MI), meconium peritonitis, congenital infection, neoplasm, or chromosomal trisomy. These findings may also represent transient normal variants. The following case report details the evaluation of one pregnancy with abnormal intestinal echogenic findings on serial sonograms (US), to demonstrate inherent diagnostic difficulties in such a case. A diagnostic algorithm is presented to aid in the proper use of US and DNA mutation analysis for cystic fibrosis (CF), so that the cause of an abnormal abdominal US can be established earlier and more accurately than suggested by previous management schemes. Earlier fetal diagnosis may help to anticipate postnatal problems associated with CF/MI, and therefore provide more optimal clinical management of the affected fetus.
超声检查发现胎儿肠道回声增强或扩张，会引发对多种产前疾病的怀疑，包括胎粪性肠梗阻（MI）、胎粪性腹膜炎、先天性感染、肿瘤或染色体三体性。这些发现也可能代表短暂的正常变异。以下病例报告详细介绍了对一例在系列超声检查（US）中出现肠道回声异常的妊娠情况的评估，以说明此类病例中固有的诊断困难。本文提出了一种诊断算法，以帮助正确使用超声和囊性纤维化（CF）的DNA突变分析，从而比以往的管理方案更早、更准确地确定腹部超声异常的原因。早期胎儿诊断可能有助于预测与CF/MI相关的产后问题，从而为受影响胎儿提供更优化的临床管理。
