Hum. Reprod. Advance Access originally published online on June 15, 2007
Human Reproduction 2007 22(8):2088-2092; doi:10.1093/humrep/dem152
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OPINION |
Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers
Unitat de Biologia Cel·lular (Facultat de Biociències), Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain
1 Correspondence address. Tel: +34 93 581 37 28; Fax: +34 93 581 22 95; E-mail address: joan.blanco{at}uab.es
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Abstract |
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 Top Abstract IntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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The use of fluorescence in-situ hybridization (FISH) in decondensed spermatozoa from carriers of structural chromosomal abnormalities provides a way to estimate the amount of unbalanced products. This methodology has become a tool of special interest for a better approximation of the reproductive competence of the carriers. Although there is no discussion regarding the cytogenetic value of the information obtained, the usefulness of performing individual sperm FISH studies must be weighed depending on the object of the study.
In this paper, we introduce some considerations concerning the convenience of a routine application of sperm FISH analysis in the major populations of structural reorganization carriers. For each group, the significance of the information that can be obtained and its relevance for genetic reproductive advice are discussed.
Key words: structural reorganization carriers/sperm FISH studies/meiotic segregation/interchromosomal effects
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Introduction |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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It is well known that carriers of structural chromosomal anomalies have a certain risk of producing unbalanced gametes during meiosis. Although their phenotype is generally normal, their reproductive competence is significantly reduced and they have a high risk of transmitting chromosomal abnormalities to the offspring. The extent of this effect has been related to the particular characteristics of each kind of reorganization and this information has been classically used for the reproductive counseling of these individuals (HC Forum®; Gardner and Sutherland, 2004
).
The advent of fluorescence in-situ hybridization (FISH) in decondensed sperm nuclei offered a new approach. Sperm FISH analysis has been revealed as the fastest and easiest method to measure the proportion of unbalanced gametes produced by these individuals. Its use has become very common worldwide, even recommended for being routinely incorporated into the genetic screening offered prior to preimplantation genetic diagnosis (PGD; Escudero et al., 2003; Gianaroli et al., 2005).
In this paper, we introduce some considerations concerning the benefit of undertaking sperm FISH analysis in carriers of Robertsonian translocations, reciprocal translocations and chromosome inversions, and the implications of these studies in obtaining relevant information for improving the genetic reproductive advice of these carriers.
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Robertsonian translocation carriers |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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Since 1995, segregation sperm FISH studies have been performed in 51 carriers involving different chromosomes: der(13;14), der(13;15), der(13;21), der(13;22), der(14;15), der(14;21), der(14;22) and der(21;22) (Rousseaux et al., 1995
; Mennicke et al., 1997; Escudero et al., 2000; Frydman et al., 2001; Morel et al., 2001; Anton et al., 2004b; Anahory et al., 2005; Roux et al., 2005; Brugnon et al., 2006; Hatakeyama et al., 2006; Moradkhani et al., 2006a,b; Ogur et al., 2006). The percentages of normal/balanced gametes observed describe a relatively wide range, which goes from 60 to 93%. However, the production of normal/balanced gametes in most of the carriers is close to the average ± SD of 84.5 ± 6.1%.
It has been noticed that these percentages are more homogeneous among the series of individuals analysed within a single laboratory even when different kinds of Robersonian translocations are compared (Frydman et al., 2001; Brugnon et al., 2006; Moradkhani et al., 2006b). This would indicate that a certain amount of the variability observed could be more related to technical aspects (such as the protocols used, the selected probes, the particular scoring criteria established in the groups according to the protocols used, etc.) than to the specific cytogenetic characteristics of the rearrangement.
To conclude, Robertsonian translocations are rearrangements with a very homogeneous segregation behavior, independent of the chromosomes involved.
The determination of the exact amount of normal/balanced gametes in every single case could be pertinent for basic cytogenetic research. However, this information would not be relevant for any subsequent counseling and there is little reason for incorporating this kind of studies as routine analysis for better reproductive advice in these carriers.
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Reciprocal translocation carriers |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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During the period 1997–2006, complete segregation patterns have been obtained by sperm FISH analysis in 62 reciprocal translocation carriers (reviewed by Anton et al., 2004a
; Benet et al., 2005; Brugnon et al., 2006; Midro et al., 2006; Wiland et al., 2006; Yakut et al., 2006). From these studies, the observed production of normal/balanced gametes describes a range that goes from 18.6 to 62.8%, with an average ± SD of 42.5 ± 10.7%. As it can be seen, the results obtained are more heterogeneous than for Robertsonian translocations.
These divergences have been classically attributed to the particular cytogenetic characteristics of each rearrangement (centromere position, size of the pairing segment, etc.) (Sybenga, 1975). Nevertheless, it is important to note that these kind of segregation studies involve a more complicated methodological approach. In part, this arises from the fact that four chromosomes are involved in this type of reorganization, making necessary the use of at least three probes and fluorochromes to allow the identification of the high number of segregation products defined by different probe combinations. Moreover, the designed combinations usually involve various classes of probes of different sizes, hybridization efficiencies and signal intensities. Therefore, it seems very likely that part of the variability observed could be influenced by different methodological approaches.
On the other hand, FISH procedures also have technical limitations that can bias the results observed. One of them is related to the increased probability that, using a high number of probes and given that the size of the sperm head is limited, some of the signals appear masked by others situated very close to them. Thus, some signals would not be considered individualized when applying strict scoring criteria, and that will favor a general increase in the products defined by fewer signals (for instance: products with one chromosome from a 3:1 segregation versus their complementary products with three chromosomes).
Another handicap of the FISH technique concerns the evaluation of a lack of a signal, as it is impossible to distinguish between the true absence of a target region and a hybridization failure. The direct consequence of including hybridization failures in the scoring would be an artifactual increase of products with only one chromosome. This would be reflected in an overestimation of the 3:1 segregation mode to the detriment of alternate and adjacent segregation modes. Regarding this fact, it can be noticed from the results published in the literature that the wideness in the range of normal/balanced gametes produced is highly influenced by some studies that report cases with an unusual segregation pattern characterized by an exaggerated presence of 3:1 segregation products (Estop et al., 1999; Van Assche et al., 1999; Escudero et al., 2003) which, in some cases, could also involve misinterpreted hybridization failures. Obviously hybridization failures will also affect Robertsonian translocation and inversion studies. The difference in these cases is that sperm will probably not be included in the assessment because they cannot be assigned to any of the expected genotypes.
Altogether, it seems that only through the analysis of a high number of carriers using the same assessment criteria and the same rigor would it be possible to clarify to which extent the origin of the variability is the consequence of the cytogenetic characteristics of the rearrangement or to methodological approaches.
To acheive this objective, a large population of reciprocal translocation carriers with very different cytogenetic features has been analysed in our laboratory (Anton et al., 2006a). In this study, a very similar production of normal/balanced gametes (around 43.9 ± 4%) has been observed in most of the individuals analysed (12 out of the 14 cases). Results point to a generalized homogeneity in the production of normal/balanced gametes. The percentage of normal gametes (
60%) detected in the two other cases were associated with the very unusual configuration adopted by those tetravalents. A deviation of the standard segregation behavior would depend on the distribution of chiasmata which in its turn depends on the size and the chromatin characteristics of the pairing segments. In this sense, extremely short segments, the presence of heterochromatin or the proximity of the centromere are clearly associated with a suppression of recombination. Thus, those situations hampering the formation of a tetravalent as a result of the factors mentioned above would represent a risk of deviation of the standard segregation pattern, producing an increase or a decrease in the percentage of normal/balanced gametes and having significant reproductive consequences in the patients.
In conclusion, most reciprocal translocations lead to a regular production of normal/balanced gametes (35–50%). These figures are informative enough to judge the genetic reproductive risk for most of the carriers. This narrow range will probably not represent any variation in the final decision of the patients regarding any further commitment to PGD. Only a basic cytogenetic research purpose or a suspicion of a possible deviation from the standard segregation behavior would justify the execution of a particular segregation study addressed toward reproductive counseling.
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Inversion carriers |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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Segregation sperm FISH studies have been performed in 18 inversion carriers during the period 1998–2006 (Jaarola et al., 1998
; Devine et al., 2000; Anton et al., 2002; Yakut et al., 2003; Mikhaail-Philips et al., 2004; Mikhaail-Philips et al., 2005; Anton et al., 2006b; Malan et al., 2006; Morel et al., 2006). The methodological approach used for the segregation studies in this kind of structural variants is fairly simple as it only requires the combination of two probes for a single chromosome. Nevertheless in these carriers, the production of normal gametes describes a range that goes from 45.7 to 99.4%, with an average ± SD of 82.9 ± 17.1%. This wide variety therefore would hardly be explained by methodological causes but would rather reflect the highly variable effect of this kind of structural reorganization on the reproductive competence of the carriers, which in some cases have the same prognosis as the normal population and in other cases have their fertility reduced to half.
It is well known that the production of unbalanced gametes in inversion carriers depends on the occurrence of recombination events within the inverted segment, which is directly related to the cytogenetic characteristics and thus the manner of pairing of these rearrangements.
By analysing the relationship between the parameters of inverted segment length and proportion of the chromosome inverted with the production of unbalanced gametes, a statistically significant correlation was detected (Anton et al., 2005). According to these results, the production of unbalanced gametes in those cases with an inverted segment larger than 100 Mbp or involving more than 50% of the chromosome is high (up to 50%). Thus, these carriers have a predictable, high genetic reproductive risk without performing further sperm FISH studies. On the other hand, in carriers of inverted segments shorter than 50 Mbp and/or involving less than 40% of the chromosome, the production of unbalanced spermatozoa is so unlikely that there is no need of performing further segregation studies. Therefore, only in those carriers of inverted segments of 50 to 100 Mpb, or involving 40–50% of the chromosome, sperm FISH studies would be useful in determining the particular behavior of each reorganization.
In summary, the usefulness of sperm FISH studies for the genetic reproductive advice of inversion carriers should be considered according to the dimensions of the inverted segment (Anton et al., 2006a). Data from further particular segregation studies in inversion carriers will contribute in defining the limits of distribution of these three groups more accurately.
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Interchromosomal effect studies |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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Besides studying the segregation outcome in carriers of structural chromosome abnormalities, sperm FISH studies have also been performed for evaluating the presence of aneuploidies for chromosome pairs not involved in the reorganization. These anomalies have been postulated to be a potential consequence of meiotic disturbances produced by the rearrangements (Interchromosomal effect; Lejeune, 1963
). Results supporting the existence of this phenomenon have been published by some authors, while others have not found any evidence of this (reviewed by Douet-Guilbert, 2005).
Data collected seem to indicate that Robertsonian translocations carriers have an important susceptibility for this kind of anomaly. In fact, around 39% (7 out of 18) of the cases in which an ICE study has been added to the segregation study (Rousseaux et al., 1995; Morel et al., 2001; Anton et al., 2004b; Hatakeyama et al., 2006; Ogur et al., 2006) showed significant increased frequencies of numerical abnormalities for at least one of the chromosomes evaluated. In the reciprocal translocation carriers, the incidence was even higher with around 44% of positive ICE (12 cases out of 27) (Mercier et al., 1998; Oliver-Bonet et al., 2001; Morel et al., 2004; Anton et al., 2006a). Concerning inversion carriers, around 14% of the cases analysed showed a positive ICE, which represented only one patient (Anton et al., 2006a) of the seven cases in which segregation behavior and ICE were analysed (Mikhaail-Philips et al., 2004; Mikhaail-Philips et al., 2005; Anton et al., 2006b). This incidence is relatively low when compared with the other structural reorganizations, but the population of inversion carriers studied is also smaller.
The origin of these aneuploidies is a controversial issue. This is based on the fact that carriers of structural chromosomal abnormalities usually have an altered semenogram, a feature which is also common in infertile patients. Increased aneuploidy frequencies are also frequent in this last group of individuals independently of whether they have a normal or abnormal karyotype (Machev et al., 2005; Miharu, 2005; Rives, 2005). Meiotic errors, either affecting synapsis during prophase I or meiotic recombination (Egozcue et al., 2000), can be the starting point for the production of these chromosomally unbalanced spermatozoa. These meiotic abnormalities have been related to mutations of meiosis specific genes involved in synaptic events, DNA recombination and DNA repair (Baarends et al., 2001), as well as to environmental factors (Mroz et al., 1998); such origins could also be applicable in structural reorganization carriers.
A recent study performed in a large population of infertile patients with altered seminal parameters and normal karyotypes (Sarrate et al., unpublished data) reported a 13% incidence of significantly increased numerical abnormalities. This incidence is very similar to that obtained in the aneuploidy screening performed in inversion carriers (14.3%) but noticeably smaller than the frequencies detected in Robertsonian translocation carriers (38.9%) and in reciprocal translocation carriers (43.5%). This would indicate that, at least in translocation carriers, the increases observed should be attributed to other factors than those mentioned above for infertile patients. In this context, the meiotic interaction at meiosis I between the reorganized chromosomes and other bivalents appears to be a reliable event for explaining the abnormal segregation of these chromosomes, and would support the interchromosomal effect premise.
Overall, independent of the origin of the aneuploidies in sperm, these carriers appear to have an increased risk of producing aneuploid gametes. At the embryo level, the consequences of this phenomenon are also controversial. Whereas some authors have found an apparent contribution from these interchromosomal effects in the number of aneuploid embryos generated (Gianaroli et al., 2002), others have not (Munne et al., 2005). In this sense, we think that it is important to point out that aneuploidy screenings only reflect a portion of the whole chromosome content of sperm/embryos, and thus, results obtained by sperm FISH studies should just be conceived as an estimation of the possible disturbances existent in each patients.
Therefore, structural carriers with significant increases in aneuploidies would have two genetic risks: those derived from the segregation of the reorganized chromosomes, and interchromosomal effects. Considering the high presence of this phenomenon in carriers, the absence of conclusive data about the characteristic of the reorganizations related to ICE, and its controversial effect at the embryo level, ICE studies in sperm could be useful in the genetic reproductive advice for carriers involved in a PGD program. In cases of a positive effect, a supplementary aneuploid PGD screening should be incorporated into the conventional PGD for structural anomalies.
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Summary |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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Compiled data indicate that Robertsonian translocation carriers would not obtain much benefit from particular segregation studies due to their very similar segregation pattern. They have a relatively high production of normal/balanced gametes that can be anticipated at around 84%.
In reciprocal translocation carriers, the production of normal/balanced gametes would fit into a small range with similar reproductive implications (around 43%). Only some specific cases with particular cytogenetic characteristics would deserve further consideration.
In inversion carriers, the usefulness of sperm FISH studies for genetic reproductive advice should be considered in relation to the dimensions of the inverted segment. Only in those cases where the risk of producing unbalanced gametes is variable with significant reproductive consequences (carriers of inverted segments involving 40–50% of the chromosome), would particular sperm FISH studies be recommended.
Finally, due to the high susceptibility of structural reorganization carriers for producing aneuploid and/or diploid gametes, a screening of numerical abnormalities by sperm FISH prior to a PGD cycle would be a very recommendable option to orientate further PGD analysis in these carriers.
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Acknowledgements |
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TopAbstractIntroductionRobertsonian translocation...Reciprocal translocation...Inversion carriersInterchromosomal effect studiesSummaryAcknowledgementsReferences |
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This work was funded by Projects SAF2003-04 312 (DGI, Ministerio de Ciencia y Tecnología), 2005SGR-00 495 (Generalitat de Catalunya) and 2004XT-00 054 (Generalitat de Catalunya).
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Submitted on November 22, 2006; resubmitted on May 4, 2007; accepted on May 9, 2007.
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