Abstract
To evaluate the frequency of structural congenital anomalies (CAs) in the midwest of Brazil and its association with maternal risk factors. This was a prospective, observational, case-control study based on a hospital population. Pregnant women attended at a fetal medicine service in Brazil were analyzed in the period from October 2014 to February 2016.A total of 357 pregnant women were included, 223 of whom had fetuses with structural anomalies (group case), and 134 of whom had structurally normal fetuses (control group). The clinical history was made previous to prenatal consultation, and the diagnosis of the structural CA was performed through ultrasound. A frequency of 64.27% (n = 223) of pregnant women with fetuses with structural anomalies was observed. The most frequent structural CAs were those of the central nervous system (30.94%), followed by anomalies of the genitourinary system (23.80%), and, finally, by multiple CAs (16.60%). The background of previous children with CAs (odds ratio [OR]: 3.85; p = 0.022), family history (OR: 6.03; p = < 0.001), and consanguinity between the progenitors (OR: 4.43; p = 0.034) influenced the occurrence of structural CA. The most frequent CAs are those of the central nervous system, followed by those of the genitourinary system, and then multiple anomalies. The maternal risk factors that may have influenced the occurrence of structural CA were previous children with CA, family history, and consanguinity among the parents.
Highlights
Congenital anomalies (CAs) are among the main causes of death in children under 5 years of age.[1]
The most frequent CAs are those of the central nervous system, followed by those of the genitourinary system, and multiple anomalies
The maternal risk factors that may have influenced the occurrence of structural CA were previous children with CA, family history, and consanguinity among the parents
Summary
Congenital anomalies (CAs) are among the main causes of death in children under 5 years of age.[1]. In around 25% of CAs, the causes seem to be multifactorial, reflecting a complex interaction of known and unknown genetic and environmental factors, including sociocultural, racial, and ethnic variables.[7] In Brazil, there is a shortage of data on the incidence of CA and the associated maternal risk factors. The absence of comprehensive studies on CAs in Brazil justifies a prospective study case control that aims to describe the frequency of structural CAs and the characteristics of pregnant women to determine possible risk factors associated with the structural CA. The results presented can help in the development of strategies to improve the management, genetic counseling, and rehabilitation of patients with CA as well as the taking of public health measures to determine risk factors
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