The prevalence of chromosome abnormality in patients with Multiple Congenital Anomalies referred to maternity hospital inTehran

Multiple Congenital Anomalies (MCAs) are important causes of mortality in developed and developing countries. Infants with MCA are typically infants with two or more major malformations. MCA have heterogeneous etiology and genetic causes are one of the major ones. Chromosomal abnormalities are one of the common genetic causes of MCA and areresponsible for 6% of them. A total number of 108 patients were investigated. The mean age of patients was 6 years.Herparnised peripheral blood was obtained. Cytogenetic analysis was carried out using GTG high resolution bandingtechnique. The overall chromosome abnormality rate in multiple congenital anomalies patients was 10.18 percent (11 out of108).The cytogenetic results for these referral patients are as follows: 6 (54.55%) had structural chromosome abnormalities including balanced and unbalanced autosomal translocations, deletions and additions.4 (36.36%) had numerical chromosome abnormalities and 1(9.09%) had mosaism with different cell lines. Cytogenetic investigation in patients withMCA is critical as a first line genetic investigation. The use of array CGH as part of the investigation of the child with MCAis gaining considerable momentum in cases where cytogenetic techniques could not detect the chromosomal abnormalitiesless than 4 Mbp. However it is an expensive and very skill based technique, not easily available in Iran. The finding of a chromosome abnormality in patients with Multiple Congenital Anomaly can help with the better management of the patient and if the abnormality is inherited, it can be prevented using prenatal diagnosis.

Keywords:

Multiple congenital anomalies , Malformation , chromosomal abnormalities