CONICET | Buscador de Institutos y Recursos Humanos

Reports of birth defects rates may focus on defects observed inthe newborn period or include defects diagnosed at older ages.However, little information is available on the rates of additionalanomalies detected after birth or on the ages at which suchanomalies are diagnosed. The aims of this work were to describethe initial diagnoses of oral clefts, isolated or associated withother defects, in newborn infants ascertained in hospitals of theECLAMC network, and diagnostic changes that occurred due todetection of additional defects during a 1-year follow-up period.Seven hundred ten liveborn infants with cleft lip only (CLO),cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertainedbetween 2003 and 2005. Prevalence estimates of isolatedand associated (ASO) clefts, diagnoses in infants with associatedclefts, and the percentage of isolated clefts that were reclassifiedas associated were established. Birth prevalence estimates (per1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO¼23.5%); CP:0.46 (ASO¼42.3%); CLO: 0.28 (ASO¼7.6%). Initial diagnosesin infants with associated clefts included 38 infants with chromosomalabnormalities, 33 with non-chromosomal syndromes,16 withmalformation sequences, and 98 with multiple anomaliesof unknown etiology. Seven percent of newborns initially classifiedas isolated were later reclassified as associated. Ten infantswithout associated defects or clinically suspected syndromeswere diagnosed as syndromic only through laboratory findingsor family history, illustrating the difference between the termsassociated versus isolated, which refers to presence or absence ofassociated anomalies, and syndromic versus non-syndromic,which refers to etiology. 2011 Wiley-Liss, Inc.