B. Benzacken et al., CHROMOSOME-21 DETECTION IN HUMAN OOCYTE FLUORESCENCE IN-SITU HYBRIDIZATION - POSSIBLE EFFECT OF MATERNAL AGE, Journal of assisted reproduction and genetics, 15(3), 1998, pp. 105-110
Purpose: The purpose of this study was to evaluate, among 100 uncleave
d oocytes, the incidence of numerical and structural chromosome 21 and
X abnormalities and to analyze the influence of various factors, such
as in vitro (IVF) indications, follicle stimulation protocols, and wo
men's age. Methods: We investigated 150 uncleaved oocytes from 128 pat
ients after art IVF attempt. After cytogenetic analysis (Giemsa) 100 o
ocytes (66%) were selected for fluorescence in situ hybridization (FIS
H). Fluorescent probes for human chromosomes X and 21 were used simult
aneously according to standard procedures for their hybridization and
detection. Results and Conclusions: We analyzed by the FISH protocol 1
00 metaphase II oocytes with 22 to 25 chromosomes. Our results demonst
rate a high rate of disomy for chromosome 21 in human oocytes. Among t
hem, eight were disomic (8%) and three were nullosomic (3%) for chromo
some 21. Only one disomy of chromosome X was noted. The various indica
tions of IVF and the different folliculogenesis stimulating protocols
did not seem to influence the results but suggested a correlation betw
een the maternal age and the aneuploidy rate of chromosome 21.