Comprehensive study of chromosomal abnormalities in infertile patients referred to Cytogenetic laboratory of abortion research Center, Yazd Reproductive Science Institute; From March 2013 to January 2019

Background: Numerical and Structural chromosomal abnormalities are recognized as a diagnostic factor in relation to infertility and recurrent pregnancy loss (RPL) and different responses to treatment. Infertility, RPL and being aware of the high risk for the genetic status of the fetus are one of the stressful complications in young couples with many psychological, physical and late complications. Cytogenetic analysis of chromosomal abnormalities could help choosing a better treatment for infertility through pre-diagnosis and post diagnosis.Objective: According to relationship between infertility and chromosomal rearrangement, we aimed to survey frequency and different kinds of these abnormalities in patients referred to Cytogenetic Laboratory of Abortion Research Center, Yazd Reproductive Science Institute; From March 2013 to January 2019.Materials and Methods: Medical records of 5,553 patients after genetic counseling with different indication include male and female infertility, RPL, IVF failure, pre-conception, pre-marital and ambiguous genital were studied. After performing G-banding karyotype in the cases, numerical and structural chromosomal abnormalities were analyzed.Results: The results showed that 5064 patients (91.2%) had normal karyotype and 489 patients (8.8%) had abnormal karyotype. Karyotype report of patients revealed that pstk+ variation have the highest prevalence include 155 (31.9%) among studied karyotypes. Other abnormalities are as follows: Inversion: 70 patients (14.5%), Turner mosaicism 39 patients: (7.8%), Klinefelter: 34 patients (6.95%), Down syndrome:31 patients (6.35%), qh+: 30 patients (6%), Translocation: 23 patients (4.8%), qh-: 31 patients (6.35%) ,ps+ :14 patients (2.85%), Turner: 12 patients (2.45%), Robertsonian chromosome: 4 patients (0.8%), Sex reversal : 2 patients (0.4%), Klinefelter-Mosaicism: 11 patients (2.25%), Deletion: 10 patients (2%), Inversion/ Translocation: 1 patient (0.2%), Acrochromosome with cenh+: 3 patients (0.6%), Duplication/Inversion:1 patients (0.2%), Isochromosome: 1 patient (0. 2%), Trisomy 18: 2 patients (0.4%), Triple X: 3 patients (0.6%), Duplication: 10 patients (2%), Marker chromosome: 2 patients (0.4%).Conclusion: The present study suggests that conventional karyotype testing can be used to identify the association between chromosomal abnormalities and infertility disorders and different responses to treatment, and the information obtained from tests for patient management, Genetic counseling and future plans for the patient are important.