Absolute polymorphic teratozoospermia in patients with oligo-asthenozoospermia is associated with an elevated sperm aneuploidy rate

Infertile patients with abnormal sperm parameters have an increased sperm aneuploidy rate, despite a normal blood karyotype. The evaluation of sperm chromosome aberrations in patients with teratozoospermia only has shown a rate similar to that found in patients exhibiting oligo-astheno-teratozoospermia, which suggests that teratozoospermia is the critical parameter associated with aneuploidy. However, it is not known which alteration of the sperm morphology is associated with chromosome aberrations. The few cases reported so far have shown an association with the presence of abnormal head morphology and particularly with enlarged heads. We report the sperm aneuploidy rate of 3 patients with oligo-asthenozoospermia who have absolute teratozoospermia (100% abnormal forms) and a different percentage of sperm head abnormalities. Fourteen healthy men with normozoospermia served as control subjects. Sperm aneuploidy and diploidy rates were calculated by using triple-color fluorescence in situ hybridization (FISH) for chromosomes 12, X, and Y, and double-color FISH was used for chromosomes 8 and 18. Patient K53, who had the highest number of spermatozoa with enlarged heads (54.3%), also had the highest aneuploidy and diploidy rates. The other 2 patients, K56 and K61, had sperm aneuploidy and diploidy rates lower than those of patient K53 but still well above the range found in normal men. Sperm chromosome abnormalities were intermediate in patient K61 and lower in patient K56, who had the lowest rate of spermatozoa with enlarged heads (18.9%). These data add further evidence that patients with teratozoospermia have an increased sperm aneuploidy rate and that this is particularly high in presence of an elevated percentage of spermatozoa with enlarged heads. For this reason, germ cells exhibiting this abnormality should not be used in in vitro fertilization programs.     

Predictive factors for an increased risk of sperm aneuploidies in oligo-astheno-teratozoospermic males

Patients with severe spermatogenesis impairment can now successfully father a child thanks to the use of intracytoplasmic sperm injection (ICSI). In oligozoospermic patients, many studies have reported significantly higher sperm aneuploidy rates and therefore an increased risk of transmitting a chromosomal abnormality via the injection of abnormal spermatozoa. However, the frequency of aneuploidy is highly variable between patients. The aim of the present work was to identify clinical and biological factors, which, together with non-obstructive oligozoospermia, could be predictive of elevated sperm aneuploidies. The sperm aneuploidy rates for chromosomes X, Y, 13, 18 and 21 were assessed in 31 infertile men with well-characterized spermatogenesis impairment, and in a population of control men with proven fertility. The frequency of sperm aneuploidy was compared between several patient subgroups according to their clinical and biological factors. Nearly half of the oligozoospermic males (15/31) had a significantly increased disomy rate for at least one of the five chromosomes compared with that observed in the control population (mean disomy rates + 1.96 standard deviation). Factors significantly associated with higher numbers of aneuploid sperm were cigarette smoking, an elevated follicle-stimulating hormone level, a sperm concentration less than 1 m/mL, and a severe teratozoospermia. Hence, several factors predictive of an increased risk of sperm aneuploidy rates were identified in ICSI male candidates with a non-obstructive oligozoospermia.     

Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism

Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia.     

Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection?

Chromosome abnormalities in embryos are a major cause of implantation and development failures. Some couples with normal karyotypes have repeated implantation failures after intracytoplasmic sperm injection (ICSI). In order to value patients at risk for genetic ICSI failures and the validity of sperm aneuploidy analysis, we have studied cytogenetic abnormalities in sperm from ICSI patients. Twenty-nine patients with normal karyotypes were included. Ten patients had at least 4 ICSI treatments without pregnancy (group A). Nine patients had a pregnancy after 1 to 3 ICSI treatments (group B). Ten fertile men with normal semen parameters were studied as controls (group C). Fluorescent in situ hybridization (FISH) was used for sperm nucleus cytogenetic analysis using chromosomes 8, 9, 13, 18, 21, X, and Y specific probes. Aneuploidy for each chromosome and diploidy rates were significantly higher in group A than in group B and in group B than in group C (P < .05). Considering each patient in groups A and B, aneuploidy rate for each chromosome was too variable to be considered as a significant test. We proposed analysis of the total sperm aneuploidy. Chromosomal sperm nuclei profile could be used as a predictive biological test before ICSI in order to improve genetic counseling for oligoasthenoteratozoospermia patients.     

Aneuploidy frequency in spermatozoa of Egyptian men with normal and abnormal semen parameters using fluorescence in situ hybridisation

Chromosome anomalies were suggested to be more frequent in infertile males so our case–control study aimed at evaluating the incidence of spermatic aneuploidies in forty males with severe oligoasthenoteratozoospermia (OAT) and comparing it with that in another forty males having normal semen parameters. Semen samples were collected and analysed in the Clinical Pathology Department according to criteria of the World Health Organization (WHO laboratory manual for the examination and processing of human semen, 2010, WHO Press). Fluorescence in situ hybridisation (FISH) was performed on decondensed spermatozoa from fresh semen ejaculates, using dual coloured chromosome‐specific DNA probes labelled with fluorochromes to study sperm aneuploidies in chromosomes 13, 21, X and Y. There was no statistical significant difference between cases and controls regarding disomy frequencies for chromosomes 13, 21 or both combined. However, 13, 21 diploidy frequency was significantly higher among OAT cases. Regarding chromosomes X and Y, both cases and controls showed similar results for disomy/diploidy frequency for both chromosomes; however, there was a statistical significant increase in YY disomy/diploidy frequency among OAT patients. X chromosome‐bearing spermatozoa were found to be significantly higher among controls. Patients with severe OAT have a higher total sperm aneuploidy rate, regarding chromosomes 13, 21, X and Y but without a statistical significant difference.     

The effects of age on the incidence of aneuploidy rates in spermatozoa of oligoasthenozoospermic patients and its relationship with ICSI outcome

The development of intracytoplasmic sperm injection (ICSI) for treatment of infertility as a result of severe male factor has improved the chances of achieving pregnancy in many infertile couples. However, concerns have been raised regarding the safety of this technique, because natural sperm selection is bypassed. In the present study, 25 oligoasthenozoospermic patients who were divided into two groups according to age: group A, 20-34 (n = 10) and group B, 35-50 (n = 15), were included. Pooling the data of the three semen parameters that were tested (volume, concentration and progressive motility) no statistically significant difference between the two age groups was found. A total of 50 883 decondensed spermatozoa was analysed using the dual and triple colour fluorescence in situ hybridization to estimate the rates of aneuploidy for chromosomes 13, 18, 21, X and Y in the two age groups. There was a significantly higher incidence of disomy for chromosome 21 compared to the other autosomes (chromosomes 13 and 18) in both age groups. The disomy rate of XY was significantly higher in the younger subject group (0.1%) compared to the older group (0.05%, p < 0.05). Statistically significant differences in the mean number of clinical pregnancies and abortions were not observed between the two age groups. The aneuploidy rates for all the analysed chromosomes did not differ significantly, both between and within the two age groups, and as a result there seems to be no effect of male age on chromosome numbers in the spermatozoa and on the ICSI outcome.     

Analysis of sperm chromosomal aneuploidy and DNA integrity in infertile couples with unexplained recurrent miscarriage

Objective: To evaluate sperm chromosome aneuploidy and DNA fragmentation in infertile couples with unexplained recurrent miscarriage (URM).Methods: Multi-color fluorescence in situ hybridization (FISH) protocol was performed with the probes specific for the chromosomes 13, 18, 21, X and Y in the control group (n= 5) and the infertile patients with URM (n=12). The level of DNA fragmentation was determined by Sperm Chromatin Dispersion (SCD) test in the patients with URM (n=48) and the fertile men (control group, n=32).Results: The patients with URM had total numerical abnormality rate of 3.91% (n=12) for the chromosomes 13, 18 and 21 and 1.98% for the chromosomes X and Y respectively, which significantly higher than that of the control group (1.29% and 0.61%, n = 5, P<0.01). A proportion of total sperm DNA fragmentation was detected in infertile patients with URM (2.1±10.3%) (n = 48), which significantly higher than the control group(2.1±5.2%, P<0.01).Conclusions: Spermatozoa from couples with URM contained high rates of DNA fragmentation and chromosomal aneuploidy. Screening for sperm chromosomal aneuploidy and sperm DNA fragmentation may provide the useful information for investigating male unexplained infertility.     

Increased aneuploidy rate in sperm with fragmented DNA as determined by the sperm chromatin dispersion (SCD) test and FISH analysis

Previous studies suggest that sperm DNA fragmentation may be associated with aneuploidy. However, currently available tests have not made it possible to simultaneously perform DNA fragmentation and chromosomal analyses on the same sperm cell. The recently introduced sperm chromatin dispersion (SCD) test allows users to determine this relationship. Semen samples from 16 males, including 4 fertile donors, 7 normozoospermic, 3 teratozoospermic, 1 asthenozoospermic, and 1 oligoasthenoteratozoospermic, were processed for DNA fragmentation analysis by the SCD test using the Halosperm kit. Three-color fluorescence in situ hybridization (FISH) was performed on SCD-processed slides to determine aneuploidy for chromosomes X, Y, and 18. Spermatozoa with DNA fragmentation showed a 4.4 +/- 1.9-fold increase in diploidy rate and a 5.9 +/- 3.5-fold increase in disomy rate compared to spermatozoa without DNA fragmentation. The overall aneuploidy rate was 4.6 +/- 2.0-fold higher in sperm with fragmented DNA (Wilcoxon rank test: P < .001 in the 3 comparisons). A higher frequency of DNA fragmentation was found in sperm cells containing sex chromosome aneuploidies originated in both first and second meiotic divisions. The observed increase in aneuploidy rate in sperm with fragmented DNA may suggest that the occurrence of aneuploidy during sperm maturation may lead to sperm DNA fragmentation as part of a genomic screening mechanism developed to genetically inactivate sperm with a defective genomic makeup.     

Sperm nullisomy is not associated with routine semen parameters but it negatively impacts on ICSI outcomes

Sperm aneuploidy is a result of mis-segregation during meiosis and correlates with male infertility. Among the types of aneuploidy, nullisomy has been reported to be more prevalent in human spermatozoa than disomy; however, nullisomy is not always assessed by FISH, and its relation with basic semen parameters is almost unknown. To establish an association between nullisomy and semen parameters and pathologies, we evaluated the potential clinical value of semen analysis and assessed the diagnosis of sperm nullisomy. A prospective study including a total of 130 patients and 25 donors aged 30–50 years with a normal karyotype was carried out. Sperm FISH analyses were performed, and basic semen parameters and ART outcome data were collected. There were no associations between sperm nullisomy of chromosomes 13, 15, 18, 21, 22, X and Y and basic semen parameters. The odds of nullisomy of chromosomes 13, 15, 16, 17, 18, 21, 22, X and Y were not related to semen pathologies. However, sperm nullisomy had a negative impact on ART outcomes, with significant decreases in fertilisation, blastocyst, pregnancy and implantation rates after ICSI. Sperm nullisomy diagnoses are not detected in semen analyses and are a possible cause of idiopathic male infertility and unexplained recurrent pregnancy loss.     

Low total normal motile count values are associated with increased sperm disomy and diploidy rates in infertile patients

This study was undertaken to evaluate the possibility of identifying men at increased risk of sperm aneuploidy and diploidy on the bases of specific cut-off values of the total normal motile count (TNMC). Twenty-seven consecutive, unselected male patients referred to our Unit were studied: 11 patients with normal sperm parameters (group A) suffering from unexplained infertility and 16 infertile patients with abnormal sperm parameters (group B). Disomy rates for chromosomes 1, 4, 8, 12, 18, X and Y were ascertained for each patient by means of triple and double fluorescence in situ hybridization (FISH) experiments. Both univariate and multivariate statistical analyses by principal component analysis (PCA) were performed for comparisons between sperm aneuploidy rates and semen quality (TNMC). TNMC scores in the two groups were significantly different (23.5 x 10(6) and 1.52 x 10(6), in groups A and B, respectively, p = 0.00002). In general, higher sperm disomy rates were noted for all chromosomes in group B compared with group A. Statistical significance was observed for disomy 1, total disomy rate (3.36% vs. 1.38%), and diploidy (0.49% vs. 0.19%) (p < 0.01). For disomy 4 and 8, differences resulted close to significance. PCA clearly showed how independent variables were inter-related. Infertile men with TNMC < 2 x 10(6) (male factor) were found to be at increased risk for sperm aneuploidy and diploidy. Multivariate analysis by PCA resulted as a useful method to visualize the information of the data sets on a bi-dimensional plot considering all the patients and all the variables at the same time.     

Comparative study of disomy and diploidy rates in spermatozoa of fertile and infertile men: a donor-adapted protocol for multi-colour fluorescence in situ hybridization (FISH)

Spermatozoa from seven healthy donors (two of whom had already fathered children) and five infertile patients taking part in the local programme of intracytoplasmic sperm-injection (ICSI) were investigated for the disomy rates of chromosomes 13/21, 18, X and Y as well as for the diploidy rates. Two- and three-colour fluorescence in situ hybridization (FISH) was applied after a donor-adapted decondensation pre-treatment: in a preliminary decondensation series the optimum fluorescence signals were individually determined by variation of the concentration of the decondensation reagents and the duration of incubation with these reagents. Strict scoring criteria were applied. The average disomy rates ranged from 0.10% (chromosomes 13/21) to 0.44% (disomy XY) in the infertile donors and from 0.07% (disomy XX) to 0.36% (disomy XY) in the controls. The average diploidy rates were 0.22% and 0.20% for the infertile donors and the controls respectively. There was no statistically significant difference between the two groups with respect to the disomy and diploidy rates. Within the two groups there were inter-individual differences which were partly statistically significant, indicating considerable inter-donor variation of the aneuploidy rates.     

Sperm chromosome aneuploidy as related to male factor infertility and some ultrastructure defects

Some men have elevated levels of sperm chromosome aneuploidy. In this study, we have evaluated and summarized sperm aneuploidy rates in male infertility patients and control groups. The mean aneuploidy rate for five chromosomes (X, Y, 13, 18, 21) was 1.2 +/- 0.1 for fertile controls, 1.4 +/- 0.1 for a general population control group, and 5.8 +/- 1.14 for the patients. When the patients were classified by the type of male factor infertility, the total aneuploidy rate was 2.6 +/- 0.3 in men with moderately diminished semen quality (n = 7), 4.0 +/- 0.3 patients with severe teratoasthenooligozoospermia, and 15.9 +/- 3.8 for men with rare ultrastructure defects such as round head only syndrome or severe tail agenesis. Some infertility patients have a severely elevated level of sperm chromosome aneuploidy, which may contribute to infertility or diminish the likelihood of a successful outcome from IVF/ICSI. The severity of sperm chromosome aneuploidy appears to be proportional to the severity of abnormal semen quality: in particular, abnormal morphology. The high rates of aneuploidy in patients with severe ultrastructure defects suggest that caution should be employed in counseling those patients prior to IVF/ICSI.     

Aneuploidy rate in spermatozoa of selected men with severe teratozoospermia

The aim of this study was to evaluate the incidence of spermatic aneuploidies in men with severe teratozoospermia and to determine an eventual relation between aneuploidies and a specific morphology of spermatozoa. Fluorescence in situ hybridisation (FISH) using a probe cocktail containing the alpha satellite for the centromeric region of chromosome X, Y and 18 was performed on decondensed spermatozoa from fresh ejaculates of thirty patients with severe teratozoospermia (abnormal forms >80%) and 15 fertile men with normal semen profiles. The mean frequency of teratozoospermia in patients was 91 ± 6.99%. There was statistically a significantly increased frequency of 1818, XY, XX and YY disomies in sperm with severe teratozoospermia compared with normal sperm (1.24% versus 0.08%, 1.42% versus 0.31%, 1.13% versus 0.19% and 1.11% versus 0.24%, respectively, P < 0.001 in all comparisons). The rate of total diploidy was significantly increased in patients compared with controls (1.46% versus 0.16%, P < 0.001). There was a correlation between macrocephalic spermatozoa and diploidy (r = 0.37, P < 0.05). Our data add further evidence that patients with severe teratozoospermia have an increased sperm aneuploidy rate and that this is particularly high in macrocephalic spermatozoa; FISH analysis on sperm could help to improve risk assessment and reproductive counselling in these individuals who are frequently candidates for intracytoplasmic sperm injection (ICSI) as a treatment of their infertility, as the use of ICSI has created consequential debate concerning the genetic risk for the offspring.     

Quality of sperm obtained by penile vibratory stimulation and percutaneous vasal sperm aspiration in men with spinal cord injury

The aim of this study was to explore sperm chromosomal aneuploidy and DNA integrity in infertile patients with spinal cord injury (SCI). Semensamples were collected from 12 infertile menwith SCI by percutaneous vasal sperm aspiration (PVSA) and from 14 male SCI patients by penile vibratory stimulation (PVS). These semen samples as well as samples from 16 donors were analyzed using the hypo-osmotic swelling (HOS) test, the sperm chromatin dispersion test, terminal deoxynucleotidyl transferase-mediated terminal uridine nick-end labeling assay, and multicolor fluorescence in situ hybridization with probes specific for the chromosomes 13, 18, 21, X, and Y. There were significant differences in the percentages of motile sperm, normal morphologic sperm, normal HOS/eosin staining, and sperm DNA fragmentation between the infertile men with SCI and the control group (P < .05 and P < .01). The sperm forward motility was significantly greater in the PVSA group than in the PVS group (P < .01). The number of round cells per milliliter of semen obtained from the 14 SCI patients by PVS was between 1 million and 12 million. The rate of sperm DNA fragmentation, as identified by the sperm chromatin dispersion test, was higher in the PVS group than in the PVSA group (P < .05). The aneuploidy rates for the SCI patients were 1.5- to 1.6-fold higher for chromosomes 13, 18, and 21, and were 2.3- to 2.4-fold higher for chromosomes X and Y than for patients in the control group (P < .001). These results suggest that for men with SCI, the semen quality is poorer, the prevalence of abnormal HOS/eosin staining is greater, and sperm DNA fragmentation and sperm chromosomal aneuploidies are seen at a higher rate compared with healthy, fertile, and normospermic men.     

Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy

The frequencies of aneuploid and diploid spermatozoa were determined in 3 patients presenting a complete asthenozoospermia due to a primary and specific flagellar anomaly: patients 1 and 2 presented a "stump tail syndrome," more than 50% of spermatozoa with a short flagella, patient 3 had a Kartagener syndrome including situs inversus, sinusitis, and bronchiectassis. No pregnancy was obtained after 3 intracytoplasmic sperm injection (ICSI) attempts in patients 1 and 2. A 3-color fluorescence in situ hybridization analysis was performed on their spermatozoa using centromeric probes for chromosomes X, Y, and 18 and compared with those of 8 fertile males. The frequency of disomic 18 and hyperhaploid XY spermatozoa was not significantly increased in the 3 patients when compared with controls. However, the 3 patients showed elevated frequencies of XX, YY, and diploid spermatozoa. These data add to growing evidence that systematic sperm anomalies of flagella increase the rate of spermatozoa aneuploidy and may also reduce the chances of pregnancy after intracytoplasmic sperm injection.     

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐mutated globozoospermic patients

The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2‐mutated patients (n = 6) and SPATA16‐mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls (p < 0.05), and a higher rate was observed in SPATA16‐mutated group compared to DPY19L2‐mutated group (p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls (p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2‐defects in classic globozoospermia.     

Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds

This study investigated chromosomal aneuploidies and DNA damage in spermatozoa from male patients contaminated by perfluorinated compounds (PFCs) in whole blood and seminal plasma. Sperm aneuploidy and diploidy rate for chromosomes 18, X and Y were evaluated by FISH; sperm DNA fragmentation was assessed by terminal deoxynucleotidyl transferase‐mediated dUTP nick end‐labelling technique coupled to flow cytometry. Our results indicated that PFC contamination was present in 58% of subjects included in the study. A significant increase in alterations of sperm parameters was observed in PFC‐positive subjects compared to PFC‐negative subjects. As regards the sperm aneuploidy, both disomy and diploidy rates resulted significantly increased in subjects positive for PFC contamination compared to PFC‐negative samples. In addition, sperm DNA fragmentation index resulted significantly increased in PFC‐contaminated subjects compared to PFC‐non‐contaminated subjects, with a significant increased level of dimmer DNA fragmentation index. Our results clearly indicate that PFC contamination may detrimentally affect spermatogenesis, disturbing both meiotic segregation and DNA integrity. We could therefore suggest cautions to reduce or eliminate any contact with these compounds because the long‐term effects of PFC accumulation in the body are not predictable.     

Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoa

The aim of this study was to analyse the meiotic segregation and DNA fragmentation rates in ejaculated spermatozoa of Tunisian men who presented the macrocephalic sperm head syndrome and to compare the results with those from 20 fertile men with normal semen profiles. Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase-mediated deoxyuridine triphosphate biotin nick-end labelling assay. Fluorescence in situ hybridisation for chromosomes X, Y and 18 was performed for the study of meiotic segregation. Despite a normal blood karyotype, patients with large-headed spermatozoa showed a significantly higher incidence of sperm chromosomal abnormalities compared with the control group. For all the patients, tetraploidy, triploidy and diploidy were the most observed abnormalities. A very high level of DNA fragmentation was shown for these patients. In conclusion, our results demonstrated that patients with large-headed, multiple-tailed spermatozoa had significantly higher incidence of sperm chromosomal abnormalities and very high level of DNA fragmentation. So intracytoplasmic sperm injection should not be recommended to these patients, not only because of its low chances of success rate but also because of its high genetic risk.     

Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature

Somatic chromosomal abnormalities are frequently found in infertile men, particularly in those with low sperm count and/or seeking intracytoplasmic sperm injection. These abnormalities mostly consist of numerical sex chromosome abnormalities and translocations (Robertsonian or reciprocal). In this study, we searched for the occurrence of non-disjunction of chromosomes not involved in translocations during meiosis, phenomenon called interchromosomal effect (ICE) and first described by Lejeune (1965). Ejaculate samples of two patients carrying a Robertsonian translocation and four a reciprocal translocation patients and four controls (men with a 46,XY karyotype and normal sperm parameters) were studied in dual FISH 7-9, dual FISH 13-21 and triple FISH X-Y-18. A statistically significant increase of disomy X, Y and XY (P = 0.009, P = 0.004, P < 0.001) was found in the Robertsonian der(13;14)(q10;q10) carrier but not in the der(14;21)(q10;q10) carrier compared with controls. Among reciprocal translocation carriers, a significant increase of disomy 21 (P = 0.033) was observed in a sole patient with a t(9;22)(q21;q11.2). The increase of meiotic non-disjunction for chromosome 21 and sex chromosomes is a recurrent event found in other studies. According to our results and published data, the ICE on some specific chromosomes is likely in men carrier of a translocation, although it cannot be excluded that the aneuploidy is related to the oligoasthenoteratozoospermia usually present in these men. Moreover, this phenomenon showed interindividual variations which cannot be predicted. The risk of aneuploidy in sperm of males used for ICSI need to be evaluated. It could be superadded to that of meiotic segregation of the translocation to give a more precise and personalized risk assessment of aneuploidy in the offspring of those men.     

Aneuploidy and DNA fragmentation in morphologically abnormal sperm

In light of the relative success of ICSI in the treatment of male infertility, much importance has been made to the selection of morphologically viable sperm. However, correlation between specific sperm morphology and chromosomal abnormalities is still relatively limited and less is known about the connection between sperm morphology and DNA integrity. Sperm obtained from isolated teratozoospermic men ( n  = 10) and control men ( n  = 9) were analysed using FISH (for chromosomes 13, 18, 21, X and Y) and TUNEL assays to determine the level of aneuploidy and DNA fragmentation. Sperm morphology was evaluated on its ability to identify the level of chromosomal abnormalities or fragmented DNA in sperm. Sperm from teratozoospermic men, compared with fertile men, had higher rates of total chromosomal abnormality ( p  < 0.05), total aneuploidy ( p  < 0.01) and chromosome 13 disomy ( p  < 0.01). Associations between particular types of sperm morphology and chromosomal abnormalities were observed in both control (tapered heads) and teratozoospermic (amorphous heads and tail abnormalities) samples. Levels of DNA fragmented sperm were higher in teratozoospermic men than in the control men (60.28 ± 21.40% vs. 32.40 ± 17.20%, p  < 0.05) and positively correlated to sperm with bent necks in control samples and round heads in teratozoospermic samples ( p  < 0.05). Sperm of isolated teratozoospermic men have higher rates of chromosomal abnormalities and DNA fragmentation than that of the fertile controls. Specific abnormal sperm morphology can be correlated to chromosomal abnormalities and level of DNA fragmentation in sperm.