Cytogenetic screening of a new‐born population

Abstract

Chromosomes were analyzed using banding techniques in 1830 consecutively born infants. The prevalence of chromosomal aberrations was 19.67/1000, which is higher than figures found in previous cytogenetic surveys using conventional staining (8.34 and 5.75/1000 in a Danish and a combined survey, respectively). The use of banding techniques may explain the higher rate of detection of chromosomal variants. This is illustrated by the findings of 7.10 autosomal inversions/1000 compared to 0.13 in a combined survey, and Y chromosome inversions of 3.14 compared to 0.26/1000. A prevalence of 2.73 balanced reciprocal translocations/1000 was found, involving chromosomes 1, 2, 3, 9, 11, 13, 16 and 22, which all belong to a group of 10 chromosomes with the highest number of spontaneous breaks in the study of Ayme et al. Infants (14) were found to have chromosomal mosaicism, and 3 of them were defined as real mosaics. With the increasing concern about the effect of environmental toxicants, it is of interest to keep a record of aberrant cells in presumably karyotypically normal newborns for possible use in future epidemiological surveys.