The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses

Abstract

Objectives: To determine the incidence of chromosome abnormalities among couples for whom intracytoplasmic sperm injection (ICSI) treatment was indicated and fetuses conceived through the ICSI procedure. Methods: All cytogenetic results were evaluated retrospectively. Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) males with severe infertility (87 azoospermia and 34 oligoasthenoteratozoospermia, OAT), (2) prior to ICSI (56 males and 61 females), and (3) following an unsuccessful ICSI procedure (132 males and 138 females). Fetuses conceived through ICSI (n = 475) were also classified into 4 groups according to the additional risk factors for chromosome abnormalities: ICSI (n = 185), ICSI + advanced maternal age (AMA, n = 215), ICSI + positive triple test result (TT, n = 50), and ICSI + abnormal ultrasound findings (USG, n = 25). Results: An abnormal karyotype was found in 31.03% of males with azoospermia and 14.71% of males with OAT, in 3.57% of males and 1.64% of females in the group prior to ICSI, and in 5.30 and 5.07%, respectively, in the group following unsuccessful ICSI treatment. Gonosomal aneuploidies were predominant in males with azoospermia and autosomal rearrangements in males with OAT, while low-level sex chromosome mosaicism was found in females. The overall frequency of chromosome abnormalities in fetuses was 4.42% and varied in the different groups from 1.62% in ICSI, 2.79% in ICSI + AMA, 10.0% in ICSI + TT to 28.0% in ICSI + USG. The frequencies of the different types of chromosome abnormalities were as follows: balanced 1.05%, unbalanced 3.37%, familial 0.84%, de novo 3.37%, autosomal 3.58%, gonosomal 0.84%, numerical 1.89%, structural abnormalities 2.53%, and mosaicism 1.26%. Conclusion: Our results indicate that cytogenetic investigations of the ICSI parents and fetuses are essential for the families, genetic counselors and also reproductive centers. In fetal karyotyping, de novo structural chromosome abnormalities and mosaicism should be taken into consideration.

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

“…In the presented study, chromosomal abnormalities were detected in 5.4% of 92 azoospermic cases and no patients of 23 oligozoospermic cases. The chromosomal abnormality ratio in azoospermia was given as 12.5-31% [4,6,[23][24][25][26]. Although our results reflect a regional pattern of those referrals, comparison of our results with the review of the literature shows a relatively smaller incidence of chromosomal anomalies in azoospermia in our center.…”

Somatic chromosomal abnormalities in couples undergoing infertility treatment by intracytoplasmic sperm injection

“…In the review by Mau-Holzmann (2005), only four comparable complex rearrangements have been reported: t(1;9;21), t(4;11;18), t(4;13;9) and t(8;13;16). In addition, Basaran et al (2004) detected a male with t(5;6;14) and Marchina et al (2007) a case with t(1;2;8). As stated by Chantot-Bastaraud et al (2008), the probability of finding chromosomally balanced spermatozoa for ICSI is very low in these cases.…”

Children Born After Intracytoplasmic Sperm Injection Compared with Spontaneously Conceived Children a Prospective Study

“…No studies have shown a gender predominance, especially as autosomal anomalies were more frequent [25,26]. However, it is very likely that inherited abnormalities are most often transmitted from the father, which predicts a higher prevalence in boys [27,28].…”