Prevalence and Factors Associated at Presence of Central Nervous System Congenital Malformations

Introduction: Congenital malformations are currently an important cause of morbidity and mortality in many countries, though in most cases their etiology is unknown. The central nervous system (CNS) is involved in many of these defects.
Objective: To study the factors associated with CNS congenital malformations and their prevalence in infants born at a high risk maternity hospital in Northeastern Brazil.
Materials and Methods: A case-control study performed from January 2010 to December 2011, with data from The Latin American Collaborative Study of Congenital Malformations.
Results: Among the 8.405 registered births, 187 were malformed newborns (2.2%). Nervous system malformations were diagnosed in 61 patients (32.6% (CI = 95% 27.5 to 38.0)), the most frequent being neural tube defects and congenital hydrocephaly. Previous history of miscarriage and/or stillbirth (p = 0.008), family history of malformations (p < 0.001) and parental consanguinity (p = 0.028) are associated with CNS malformation. Environmental factors such as maternal chronic diseases, smoking, exposure to teratogenic drugs and alcohol presented no statistically significant differences.
Conclusions: The genetic component was an important contributing factor to the etiology of the malformations studied.