Prenatal diagnosis,fetal pathology,and cytogenetic analysis of mosaic trisomy 14

While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.     

Ein quantitatives Strukturmaß in der digitalen Bildverarbeitung

Die Idee zu dieser Arbeit geht auf Diskussionen mit W. Priester über die Reduktion von Radiobeobachtungen ausgedehnter Galaxien im Jahre 1974 zurück. Die wesentlichen Teile wurden während eines Aufenthalts des Autors am Department of Astronomy, University of Florida, Gainesville, im Jahre 1987 entworfen. Ich habe ferner vielen Kollegen für hilfreiche Hinweise zu danken, darunter E. E. Baart, J. Condon, T. Cornwell, L. Erickson, S. Gottesman, J. Högbom, J. Skilling.