W. Vegetti et al., Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men, HUM REPR, 15(2), 2000, pp. 351-365
Spermatozoa from 32 infertile patients and 13 controls with normal semen pa
rameters were analysed using dual and triple colour fluorescence in-situ hy
bridization (FISH) techniques, in order to investigate the rates of aneuplo
idy for chromosomes 13, 18, 21, X and Y. The patients were divided into thr
ee groups according to their karyotypes or the karyotypes of their offsprin
g: 15 were infertile men with abnormal semen parameters and normal karyotyp
es (group 1), 13 were infertile men with abnormal karyotypes and normal or
abnormal semen (group 2) and four were infertile men with abnormal semen an
d normal karyotypes but whose wives conceived a child (or a fetus) with a n
umerical chromosomal abnormality through an intracytoplasmic sperm injectio
n cycle (group 3), Patients with abnormal semen parameters showed a signifi
cantly higher aneuploidy rate for the investigated chromosomes in their spe
rmatozoa compared to controls (P < 0.005). Our data suggest the presence of
a correlation between poor semen parameters and an increase in aneuploidy
rate of chromosomes 13, 18, 21, X and Y in spermatozoa (r = -0.81071, P < 0
.002); therefore the risk of a chromosomal aneuploidy in spermatozoa seems
to be inversely correlated to sperm concentration and total progressive mot
ility, Patients with abnormal karyotypes showed a higher incidence of diplo
idy and chromosomal aneuploidies compared to controls (P < 0.002). This str
ongly suggests the presence of an interchromosomal effect of the cytogeneti
c rearrangement. Men who fathered a child,vith an abnormal karyotype throug
h intracytoplasmic sperm injection did not present a higher aneuploidy rate
for the investigated chromosomes in spermatozoa compared to patients with
infertility due to a similar male factor but showed higher incidence of chr
omosomal aneuploidy compared to normal controls.