Prenatal Cytogenetic Diagnosis at the Department of Medical Genetics GENNET - Klimentská

Overview

Objective:
Analysis of data from prenatal cytogenetic studies performed during 10 years.Design: Retrospective analysis of cytogenetic results.Setting: Cytogenetic laboratory, Department of Clinical Genetics GENNET, Prague.Methods: Cytogenetic analysis of cultivated amniotic cells.Results: 180 chromosomal pathologies, including 110 numerical and 70 structural, were diagnosedin 5743 samples of amniotic fluid. Relatively high number of structural aberrations was foundalso in groups of patients examined because of increased maternal age, abnormal values of bio-chemical markers and abnormal ultrasound findings. Chromosomal abnormalities in individualgroups of patients, risk figures for de novo balanced structural aberrations, additional markerchromosomes and some mosaic findings as the management following the prenatal diagnosis ofthis abnormalities are discussed.Conclusion: On the basis of the great number of familiar structural aberrations in our material isrecommended to pay attention to the detection of such anomalies also in groups of patients wherenumerical chromosomal changes are namely expected.

Key words:
prenatal cytogenetic diagnosis, numerical and structural chromosomal aberrations