The significance of accessory bisatellited marker chromosomes in amniotic fluid cell cultures

Thirteen new cases of accessory bisatellited marker chromosomes were found among 20,370 amniocentesis. Six of these were familial, six originated de novo and in one case the origin of marker chromosome remained unknown. Eleven cases were carried to term and follow up studies revealed no abnormality. In two cases the pregnancies were terminated and the pathological examination revealed apparently normal fetuses. A cytogenetic categorization of bisatellited marker chromosomes is described. The available data show clearly that there is no increased risk for offspring with abnormal phenotype born to a healthy carrier of an accessory bisatellited marker chromosome with either a single or two closely adjacent C-bands (category AI or AII). The unbiased sample of cases with de novo accessory bisatellited marker chromosomes of category AI or AII is still too small to allow a satisfactory estimation. However, the actual risk for a fetus to be affected may be low too.