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Pediatría (Asunción)

versão On-line ISSN 1683-9803


FONSECA, R et al. Knowledge of Pediatricians Concerning Causes and Risk Factors for Congenital Disorders. Pediatr. (Asunción) [online]. 2008, vol.35, n.2, pp.95-100. ISSN 1683-9803.

Introduction: Congenital disorders are morphological or functional anomalies of genetic or environmental origin and which may pre- or post-date conception. They affect from 2% to 5% of births, and are the second most common cause of infant mortality in South America. In Paraguay they are the fourth leading cause of death for infants of less than 1 year of age. Spontaneous abortion occurs in 15% of pregnancies; of these 80% are of embryos with abnormalities.  Since half of these cases could be prevented, society, and the medical community especially, bear moral responsibility in the matter. Most public facilities lack the assistance of a genetic specialist, and therefore responsibility for the important initial guidance concerning any congenital disorder detected falls on the pediatrician. Objectives: To determine the state of knowledge of pediatricians concerning causes, risk factors, and preventative measures for congenital disorders. Material and Methods: A prospective observational and descriptive study with a non-probabilistic sample of consecutive cases. We used a form with 54 questions, 51 of them on congenital disorders, to voluntarily and anonymously survey 117 physicians in 3 public facilities that train pediatric specialists. Results: Of the 117 physicians surveyed, 47% (n: 55) were residents, 48% (n: 56) pediatricians, 4.2% (n: 5) neonatologists, and 0.8% (n: 1) family practitioners. An average of 35/51 (68.6%) of answers were correct.  A total of 28.2% (n: 33) knew the effect of congenital disorders on the infant mortality rate, while 44.4% (n: 52) did not. More than 80% of those surveyed recognized thalidomide and the tetracyclines as teratogenic agents, but less than 50% knew of the teratogenic action of vitamin A, valproic acid, or enalapril. More than 80% correctly identified folic acid, paracetamol (acetaminophen), and amoxicillin as non-teratogenic. That no safe amount of alcohol consumption exists was sustained by 80%. More than 80% identified consanguinity, maternal age, and a previous malformed child as risk factors. Paternal age and tobacco use by the mother were also unequivocally recognized as risk factors. Down's syndrome was recognized as related to maternal age by 95.7%, but less than 50% identified trisomy 13 or 18 as being associated with it. The incidence of Down's syndrome in women over age 35 was correctly identified by 21.4%. More than 80% correctly identified how to determine Down’s and Turner's syndrome by fetal karyotyping  That malformation of the neural tube can be prevented by intake of folic acid was correctly supported by 94.8%, while 75.2% correctly identified when it should be administered. Only 9.4% reported providing genetic counseling to patients before discharge. Conclusion: A lack of knowledge exists concerning the influence of congenital disorders on infant mortality in Paraguay and of the incidence of Down's syndrome in children of women over age 35. Those surveyed showed acceptable levels of knowledge concerning the causes and risk factors for congenital disorders, and satisfactory knowledge concerning their prevention.

Palavras-chave : congenital abnormalities; etiology; congenital disorders; prevention; risk factors.

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