Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.     

地方利益相关者对作为水管理交流工具的模型生成数据的接受:伦讷河研究

本研究的目标是增加关于模型生成数据被用作水质管理的交流工具时,地方利益相关者接受该数据的知识.研究地区选在瑞典西南部的伦讷(R(o)nne(a))河流域.结果表明,模型生成数据起到了联合因素的作用.同时,利益相关者与提供的数据有关,主要问题为未考虑到的污染源、测定污染时缺乏信任、自然变化和延迟效应的影响的不确定性.确定了4组影响利益相关者接受模型生成数据的因素对其实际应用的信心,对所涉及的参与人员或对话资料提供者(如专家、决策者、媒体)的信心,参与者的社会特征(如年龄和职业),和数据的交流方式(如交流的语气、小组的构成、持续时间、对话的地理尺度).对给定的模型生成数据实际应用的公平性的感知,也是接受与否的一个重要因素.