Blackburn B L, Fineman R M
Office of Maternal/Infant Health and Genetics, Washington State Department of Health, Seattle.
Am J Med Genet. 1994 Aug 15;52(2):123-9. doi: 10.1002/ajmg.1320520202.
As part of an epidemiological study of congenital hydrocephalus in Utah, we focused on the effect of ascertainment sources and temporal variability to further delineate the causes of this relatively common, handicapping birth defect. The incidence and distribution of 934 reported cases diagnosed prior to age 6 months, and born to Utah residents from 1940 to 1979, were analyzed. Data were ascertained by examination of multiple sources, e.g., 982,066 birth, 11,161 fetal death, and 248,208 death certificates, and selected hospital and clinic records. Of the 934 reported cases, 700 met our selection criteria for congenital hydrocephalus, which results in a crude incidence of 0.70 per 1,000 live and stillbirths. Seventy-one cases (10.1%) had additional, multiple congenital anomalies. The male/female sex ratios of the 619 cases of isolated congenital hydrocephalus (occurring as a single entity or in the absence of other reported or known birth defects) and those with multiple congenital anomalies (71 cases) were virtually identical, being 1.45 and 1.48, respectively. A significant 85% increase in the rate of reported cases was observed for the period 1966 to 1970. However, examination of patients' records from 1966 to 1975 in the hospital responsible for almost all of this increase suggests that this was an iatrogenically related "epidemic" caused by several factors: the introduction and possible misinterpretation of pneumoencephalograms (PEG) in the diagnosis of hydrocephalus (PEG was replaced by CAT scanning in the early 1970s), inappropriate diagnosis, and incorrect recording of age at time of diagnosis.
作为犹他州先天性脑积水流行病学研究的一部分，我们着重研究确诊来源和时间变异性的影响，以进一步阐明这种相对常见的致残性出生缺陷的病因。我们分析了1940年至1979年期间出生于犹他州居民、6个月龄前确诊的934例报告病例的发病率和分布情况。数据通过查阅多种来源确定，如982,066份出生证明、11,161份胎儿死亡证明、248,208份死亡证明，以及选定的医院和诊所记录。在934例报告病例中，700例符合我们先天性脑积水的选择标准，粗发病率为每1,000例活产和死产中有0.70例。71例（10.1%）有其他多种先天性异常。619例孤立性先天性脑积水（作为单一病症出现或无其他报告或已知出生缺陷）和71例有多种先天性异常病例的男/女性别比几乎相同，分别为1.45和1.48。1966年至1970年期间报告病例率显著上升了85%。然而，对几乎所有这一增长所涉及医院1966年至1975年患者记录的审查表明，这是由多种因素导致的医源性相关“流行”：脑积水诊断中引入气脑造影术（PEG）并可能存在错误解读（20世纪70年代初PEG被计算机断层扫描取代）、诊断不当以及诊断时年龄记录错误。
