The use of fluorescence in situ hybridization analysis on sperm: indications to perform and assisted reproduction technology outcomes

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

“…In line with the results of previous studies (García‐Mengual et al., 2019), sperm nullisomy was the most frequent genetic alteration in our study (93.18%) and was not correlated with alterations in semen parameters. Although the association between sperm concentration, morphology and sperm aneuploidy has been extensively studied (Van Dyk et al., 2000; Rodrigo et al., 2019; Sarrate et al., 2019), we did not observe any such association, likely because our study focused mainly on sperm nullisomy. The majority of studies have found a strong and inverse relationship between sperm concentration and the mean frequencies of sex chromosome disomy and diploidy (Van Dyk et al., 2000; Rodrigo et al., 2019; Sarrate et al., 2019).…”

“…Although the association between sperm concentration, morphology and sperm aneuploidy has been extensively studied (Van Dyk et al., 2000; Rodrigo et al., 2019; Sarrate et al., 2019), we did not observe any such association, likely because our study focused mainly on sperm nullisomy. The majority of studies have found a strong and inverse relationship between sperm concentration and the mean frequencies of sex chromosome disomy and diploidy (Van Dyk et al., 2000; Rodrigo et al., 2019; Sarrate et al., 2019). On the other hand, the relationship between chromosome abnormalities and sperm motility is still controversial.…”

“…Approximately, 6% of males with a normal karyotype have chromosomal abnormalities in germ cells (Lipshultz & Lamb, 2007). Sperm aneuploidy is a chromosomal abnormality result of mis‐segregation during meiosis (Ramasamy et al., 2014; Vendrell et al., 1999), which correlates with male infertility (Arumugam et al., 2019; García‐Mengual et al., 2019; Sarrate et al., 2019). Among aneuploidies, sperm nullisomy is a genome mutation where a chromosomes that would normally be present is missing in the male gametes.…”

“…Chromosomal abnormalities are considered important genetic causative factors of male infertility (Babakhanzadeh et al., 2020) and correlate with fertility problems (Arumugam et al., 2019; García‐Mengual et al., 2019; Sarrate et al., 2019). Among them, aneuploidy is the most common chromosomal abnormality (Templado et al., 2013) produced by meiotic failure in male gametes (Ramasamy et al., 2014; Vendrell et al., 1999).…”

“…Suboptimal semen parameters quality due to sperm chromosome aneuploidies has been reported in males with a normal blood karyotype (Nagvenkar et al., 2005). Semen parameters such as motility and concentration are altered in semen samples with sperm aneuploidies (Calogero et al., 2003; Rodrigo et al., 2019; Sarrate et al., 2019; Vendrell et al., 1999), and chromosomal abnormalities are frequent in semen samples with oligoasthenozoospermia (Vendrell et al., 1999) and asthenoteratozoospermia (Hristova et al., 2002). However, all of these previous studies focused on disomy or diploidy and reported no information regarding nullisomy, in spite of the fact that sperm nullisomy is more prevalent than disomy or diploidy in human spermatozoa (García‐Mengual et al., 2019).…”