Incidence of Cytogenetic abnormalities in female infertility

Abstract

Background: Infertility is a common problem and may affect up to 15% of all couples. Genetic disorder is considered to be the commonest correctable cause of female infertility. Their incidence among infertile female is 20-40% – about three times greater than in the general population. Aim: This study aims to report the incidence of cytogenetic abnormalities in female infertility and to report karyotype abnormality with AMH hormone levels. Patients and Methods: 50 infertile females were included. All- purpose clinical records and blood samples were obtained according to WHO criteria. Different levels of AMH were detected using Vidas techniques. Karyotyping was done using conventional method, and Lucia computerized software. Results: Among 50 infertile females; 37/50 females had normal karyotypewhile, 13/50 females had abnormal karyotype. Patients with abnormal karyotype with AMH hormonal levels; 4/13 (30.8%) were very low, 2/13 (15.4%) were low fertility, 2/13 (15.4%) were satisfactory and 5/13 (38.5%) were optimal fertility levels. From 13infertile patients with abnormal karyotype; 10/13 (76.9%) patients were46,XY [20], while1/13(7.7%) were 46,XX[15]/45,X[5], 1/13(7.7%) were 46,XX[6]/45,X[14] and 1/13 (7.7%) were 46,XX[10]/45,X[10]karyotype.Conclusion:Cytogenetic abnormalities are an important cause of female infertility. That karyotype analysis in both partners should be performed for infertile couples. Genetic testing and genetic counseling in infertile couples attending assisted reproduction are important to recognize the cause of infertility, but also to evaluate the reproductive risk of couples with genetic abnormalities that may be transmitted to the offspring.