PURPOSE: To investigate incidence, changing patterns, and mortality associated with congenital anomalies experienced in a single neonatal intensive care unit (NICU). METHODS: Retrospective chart review of 29,026 neonates admitted to NICU and nursery of Asan Medical Center from January 2001 to December 2010 was done. The congenital anomalies were classified according to 76 anomalies in 8 systems registered by Korean Ministry of Health and Welfare in 2009. RESULTS: A total of 3,122 neonates had at least 1 anomaly. Mean gestational age and birth weight were 38(+2)+/-2.3 weeks and 2,030+/-541 g respectively. The proportion of male is 61%. The incidence of congenital anomalies and the proportion of mothers older than 35 years increased from 8.3% to 23.0% and 6.4% to 16.4% in 2001 compared to 2010 respectively. The percentage of neonates who have multiple anomalies was almost equal from 24.0% in 2001 to 23.7% in 2010. The most common anomalies, by system, included atrial septal defect, hydronephrosis, anorectal atresia/stenosis, cystic adenomatoid malformation, cleft lip and/or palate, CATCH 22 syndrome, polydactyly, and hydrocephalus. The overall mortality at 2 years old decreased from 11.1% to 8.0% in 2001 and 2010. Most common etiologies resulting in highest mortality, by system, were hypoplastic left heart syndrome, renal agenesis, congenital diaphragmatic hernia, pulmonary hypoplasia, 18 trisomy, and anancephaly. CONCLUSION: Our data have shown that the incidence of congenital anomaly included in this study is increasing. A detailed epidemiologic study based on larger population is required in order to investigate preventive measures.
Birth Weight ; Cleft Lip ; Congenital Abnormalities ; Epidemiologic Studies ; Gestational Age ; Heart Septal Defects, Atrial ; Hernia, Diaphragmatic ; Humans ; Hydrocephalus ; Hydronephrosis ; Hypoplastic Left Heart Syndrome ; Incidence ; Infant, Newborn ; Intensive Care, Neonatal ; Kidney ; Kidney Diseases ; Male ; Mothers ; Nurseries ; Palate ; Polydactyly ; Retrospective Studies ; Trisomy

A 17 year old female with diabetes mellitus type 1, with chronic kidney disease. Moreover, hypoplastic left kidney and a renal mass on the functional kidney. The possibility all these medical problems occurring at the same time is close to impossible. The management is likewise very difficult and challenging. Partial nephrectomy as initial choice to treatment but initial ureteroscopic findings and change to radical nephrectomy was prudent. In lieu of chronic dialysis, the decision of early transplantation was done. We present the management choices we had to make in a very difficult case.

Diabetes Mellitus Type1 ; Hypoplastic Kidney ; Solitary Kidney ; Renal Cell Cancer