Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies.

In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied. The classification of malformations was based upon the anatomical system affected. The differences in fetal/maternal characteristics between cases with or without congenital malformations were assessed using chi-square test.

Of the all 9678 autopsied fetuses, 4498 (46.47%) were diagnosed as being malformed fetuses. Anomalies of limbs (22.71%) and digestive and abdominal wall defects (14.76%) were mostly detected, followed by congenital brain defects (13.41%) and nephrourologic abnormalities (11.23%). A marked association of parental consanguinity with increased congenital anomalies rates was found (P<10^-6, OR=1.89, CI=1.69-2.13).

In Tunisia, surveillance and epidemiological evaluation of congenital anomalies underline the high frequency of these events. This will help to better target congenital anomalies prevention and screening policies in our population.