Cytogenetic studies of couples with reproductive failure in alexandria, egypt.

Chromosome abnormalities (CA) are the major contributors to the genetic causes of reproductive disorders. The aim of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of reproductive failure in Alexandria, Egypt. The study included 376 couples referred to the outpatient clinic of the Human Genetics Department, Medical Research Institute, University of Alexandria. Chromosome analysis by GTG banding was performed on cultures of peripheral blood lymphocytes. C-banding, and Silver-nucleolar organizer region (Ag-NOR) staining were also done when required. The 376 couples with reproductive failure included in this study were divided into groups having: (1) a normal and/or malformed child (NC/MC), (2) two or more spontaneous abortions (>/=2SAB) (3) intrauterine fetal deaths & stillbirths (IUFD &stillbirths) and (4) infertility. Chromosome abnormality was found in 34 couples (9.04%), 26 females (6.91%) and 8 males (2.13%) partners. The structural chromosome rearrangements were more frequent than numerical chromosome aberrations (6.65 and 1.86% of cases, respectively). Chromosomal breaks were found in 0.53% of cases (2/376). The most common structural abnormality was balanced translocations either Robertsonian or reciprocal. 47.XXY karyotype and low mosaicism in X and Y chromosomes were the most common numerical abnormalities. The current study demonstrated the presence of the chromosome abnormality and its influence on reproductive failure. The identification of chromosomal abnormality as the etiology facilitated the counseling and appropriate management. Karyotype analysis should be an integral part of diagnostic work up in couples with reproductive problems especially those undergoing assisted reproductive procedures.