High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Abstract

Problem This study sought to evaluate the value of motile sperm organelle morphology examination (MSOME) for selecting euploid spermatozoa in six patients who were heterozygous for a reciprocal translocation. Method of study We used sperm fluorescence in situ hybridization (FISH) to screen for aneuploidy of the chromosomes involved in the translocations and a putative interchromosomal effect (ICE) for chromosomes 18, X and Y. This procedure was performed on (i) whole sperm (i.e. no selection) and on normal spermatozoa selected (ii) at a magnification typically used for intracytoplasmic sperm injection (ICSI), referred to as "ICSIlike", and (iii) with MSOME. Results The balanced translocation rates did not differ significantly (p=0.81) when comparing whole sperm (57.2 %) with spermatozoa after ICSI-like selection (56.3 %) or after MSOME (53.7 %). Similarly, the aneuploidy rates for ICEs did not differ significantly (p=0.14) when comparing whole sperm (1.9 %), ICSI-selected spermatozoa (3.4 %) and MSOME-selected spermatozoa (1.0 %). Conclusion For patients who are heterozygous for reciprocal translocations, MSOME does not improve the selection of euploid spermatozoa.

Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility

“…In previous studies, we evaluated the relationship between sperm head morphology at high magnification and its chromatin/DNA content in sperm samples from men harboring a reciprocal or a Robertsonian translocation. However, we did not detect any relationship between high-magnification morphology and balanced/unbalanced chromosomal content [19,20]. This could be related to the fact that in carriers of chromosomal rearrangements, all spermatozoa, and not only those with chromosomal unbalance, display an abnormal nuclear chromosomal architecture [21].…”

The nature of human sperm head vacuoles: a systematic literature review

“…This meant that selection of spermatozoa with a normal, vacuole-free head did not guarantee normal chromosome content. Other researchers recently reported concordant data [ 35 ]; the selection of normal spermatozoa by MSOME was no more efficient than ICSI for selecting euploid spermatozoa or excluding aneuploid spermatozoa, since the balanced translocation rates did not differ significantly (p=0.81) when comparing normal spermatozoa selected under ICSI-like magnification (56.3%) or after MSOME (53.7%) [ 35 ]. It should be noted that, in these two latter studies, the small sample size reduced the statistical significance.…”

“…Two studies have focused on patients with a high proportion of chromosomally unbalanced spermatozoa in whole semen (i.e. patients with reciprocal or Robertsonian translocations) [ 34 , 35 ]. Cassuto et al used the classification mentioned above to select different types of spermatozoa for patients with reciprocal translocations (n=6) or Robertsonian translocations (n=3) [ 34 ].…”

Decrease of spermatozoa with an unbalanced chromosome content after cell sorting in men carrying a structural chromosomal abnormality

“…To the best of our knowledge, only five publications have reported techniques for the selection of normal or balanced spermatozoa in translocation carriers. Two studies evaluated the potential of motile sperm organelle morphology examination (MSOME) for selecting normal or balanced spermatozoa (Cassuto et al 2011;Chelli et al 2013). Both studies concluded that MSOME could not be used to select normal or balanced spermatozoa in men with a constitutional chromosomal abnormality.…”