Jacobs P A, Browne C, Gregson N, Joyce C, White H
Wessex Regional Genetics Laboratory, Salisbury General Infirmary, Wiltshire.
J Med Genet. 1992 Feb;29(2):103-8. doi: 10.1136/jmg.29.2.103.
Data on structural chromosome abnormalities identified during prenatal diagnosis were used to estimate the number of such abnormalities that would be detectable in an unselected series of newborns using moderate levels of banding (400 to 500 bands). These estimates were compared with the rates detected in nonbanded surveys of newborns. Between 1976 and 1990 prenatal diagnosis using banding techniques was carried out in our laboratory on 14,677 women aged 35 and over. Among these, we detected 112 structural rearrangements, 32 unbalanced and 80 balanced. These figures were adjusted by two methods to give an estimate of the frequency of structural abnormalities in the newborn. Our data suggest that the use of moderate levels of banding increases the frequency of unbalanced structural abnormalities from 0.052 to 0.061% and of balanced structural abnormalities from 0.212 to 0.522%. Thus, the total number of chromosome abnormalities detectable in the newborn is increased from 0.60% in unbanded preparations to 0.92% in banded preparations.
利用产前诊断期间所识别出的染色体结构异常数据，来估算在一系列未经挑选的新生儿中，使用中等水平显带技术（400至500条带）可检测出的此类异常数量。将这些估算值与在新生儿非显带检查中检测到的比率进行比较。1976年至1990年间，我们实验室对14677名35岁及以上的女性进行了使用显带技术的产前诊断。其中，我们检测到112例结构重排，32例不平衡型和80例平衡型。通过两种方法对这些数据进行调整，以估算新生儿中结构异常的频率。我们的数据表明，使用中等水平显带技术会使不平衡结构异常的频率从0.052%增至0.061%，平衡结构异常的频率从0.212%增至0.522%。因此，新生儿中可检测到的染色体异常总数从不经显带处理时的0.60%增至经显带处理时的0.92%。
