Nielsen J, Wohlert M, Faaborg-Andersen J, Hansen K B, Hvidman L, Krag-Olsen B, Moulvad I, Videbech P
Hum Genet. 1982;61(2):98-101. doi: 10.1007/BF00274195.
As part of an ongoing study of the influence of environmental factors on pregnancy, childbirth, and fetuses, comparisons have been made between incidences in 1969-1974 and in 1980-1982 of chromosome aberrations in liveborn children in the same area of Denmark. The incidence of chromosome aberrations in the first period was 2.6 per 1000, compared with 41. per 1000 during the latter period. However, the difference was mainly due to an increase in inversions, and this in turn was due to a difference in chromosome staining methods between the two periods. It is concluded that the Danish study and similar studies in the United States, Canada, and Scotland indicate that early detection of chromosome aberrations by chromosome examination at birth is indicated in order to be able to inform and counsel parents of children with chromosome aberrations. Chromosome examination at birth is also of importance in the diagnosis of structural inheritable chromosome aberrations and consequent family investigation and genetic counseling.
作为一项正在进行的关于环境因素对妊娠、分娩和胎儿影响的研究的一部分,已对丹麦同一地区1969 - 1974年和1980 - 1982年活产儿染色体畸变的发生率进行了比较。第一阶段染色体畸变的发生率为每1000例中有2.6例,而后期为每1000例中有4.1例。然而,这种差异主要是由于倒位增加所致,而这又归因于两个时期染色体染色方法的不同。得出的结论是,丹麦的这项研究以及美国、加拿大和苏格兰的类似研究表明,为了能够告知和咨询患有染色体畸变儿童的父母,有必要在出生时通过染色体检查早期发现染色体畸变。出生时的染色体检查在诊断结构性可遗传染色体畸变以及随后的家庭调查和遗传咨询方面也很重要。