The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses.

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.

DNA ploidy of ectopic pregnancy and first trimester spontaneous abortion investigated by flow cytometry.

BACKGROUND: To compare the success rate of DNA flow cytometry in determining the DNA ploidy status in ectopic pregnancy and first trimester spontaneous abortion. METHODS: Thirteen women with ectopic pregnancy (Group I) and 17 women with first trimester spontaneous abortion (Group II) were included into this study. DNA flow cytometric analysis was performed on all specimens. Aneuploidy was classified according to DNA index. The first trimester spontaneous abortions were also karyotyped after long-term culture of chronic villi. Student-t test and Fisher's exact test were used in statistical comparisons. RESULTS: DNA aneuploidy was found in five women with ectopic pregnancy (38.5%) versus in 12 women with first trimester spontaneous abortion (70.6%), and it was comparable. A triploidy and a tetraploidy were detected in group I. Six tubal ectopic pregnancies were unruptured at laparatomy and four of them had aneuploid DNA content. CONCLUSIONS: We believed that DNA flow cytometry was successful in determining the ploidy status of ectopic pregnancy and first trimester spontaneous abortion. In addition, it was interesting that ectopic pregnancies with aneuploid DNA content tended to be unruptured. However, this suggestion needs to be confirmed by further studies with larger numbers of cases.