Customize your JAMA Network experience by selecting one or more topics from the list below.
2 tables omitted
Birth defects (BDs) are conditions that (1) result from a malformation, deformation, or disruption in one or more parts of the body; (2) are present at birth; and (3) have a serious, adverse effect on health, development, or functional ability. BDs are leading causes of pediatric hospitalizations,1 medical expenditures,2 and infant mortality.3 To estimate national hospital charges and rates of in-hospital deaths for a greater number of specific BDs than estimated in previous reports, investigators at the University of Arkansas for Medical Sciences and CDC used the Healthcare Cost and Utilization Project 2003 Kids' Inpatient Database (KID), developed and distributed by the Agency for Healthcare Research and Quality.4 KID is a 10% sample of hospital discharges after uncomplicated births and an 80% sample of all other pediatric discharges from 36 participating states. Data are weighted to represent all pediatric hospitalizations in the United States. The investigators analyzed hospital stays during 2003 for newborn infants with any of 35 BDs. This report describes the results of that analysis, which indicated substantial variation among BDs regarding average length of stay, average hospital charge, and the incidence of in-hospital deaths. Average length of stay was greatest for infants with surgically repaired gastroschisis or omphalocele. Average hospital charges were highest for infants with hypoplastic left heart syndrome and common truncus arteriosus. Although anencephaly, trisomy 13, and trisomy 18 were associated with the highest rates of in-hospital death, the largest total numbers of deaths associated with neonatal hospitalizations occurred in infants with diaphragmatic hernia and renal agenesis. Further studies are needed to distinguish outcomes for infants with isolated and multiple defects and to assess longer-term outcomes.
Thirty-five BDs were selected for this analysis from the 45 defect categories included in the Congenital Malformations Surveillance Report of the National Birth Defects Prevention Network5 based on the likelihood that any of the 35 BDs would be diagnosed at birth or during the neonatal hospital stay and that the diagnosis would represent a permanent structural defect rather than an anomaly associated with preterm birth. Because of concerns regarding the specificity of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) diagnosis codes, atrial septal defects, ventricular septal defects, and patent ductus arteriosus were excluded from the analysis. BDs were identified in the KID database on the basis of ICD-9-CM codes with the exception of gastroschisis and omphalocele; the ICD-9-CM code 756.79 includes both these conditions. To distinguish gastroschisis from omphalocele, procedure code 54.71 was used to identify surgically repaired gastroschisis, and procedure codes 53.41 and 53.49 were used to identify omphalocele. Certain BDs include more than one four-digit ICD-9-CM code, such as cleft lip (749.1 and 749.2) and obstructive genitourinary defects (753.2 and 753.6).
BD codes were included if the infant in which the defect occurred was aged <10 days at the time of admission to the hospital. At discharge, a single infant could have up to 15 BD codes; all BD codes for each infant were included in the analysis. Because KID discharge records cannot be matched for individual persons, BDs for infants who were transferred from the birth hospital to another hospital during the first 10 days of life were excluded to avoid double counting of BDs.6 BDs for those infants were presumed to have been taken from the discharge record of the hospital to which they were transferred. The charges associated with the birth hospitalizations of these infants were not included.
Certain severe BDs were associated with a high risk for in-hospital death, particularly anencephaly (85.3%). Approximately 60.4% of infants admitted with trisomy 13 and 56.4% admitted with trisomy 18 died before discharge. All three of these BDs are typically considered to be fatal; however, approximately 5% of infants with trisomies 13 and 18 are reported to survive to age 1 year,7 and some anencephalic infants survive for a week or more.8 Approximately one third of newborn infants with diaphragmatic hernia (34.4%) and hypoplastic left heart (33.5%) and one fourth of those with renal agenesis (27.3%) died in the hospital.
Average length of hospital stays for newborns was longest for infants with surgically repaired gastroschisis (41.0 days, 95% confidence interval [CI] = 39.5-42.5 days) or omphalocele (32.5 days, CI = 29.2-35.8 days). Average length of stay was ≥21 days for infants with eight other BDs: esophageal atresia, common truncus arteriosus, hypoplastic left heart, diaphragmatic hernia, bladder exstrophy, coarctation of the aorta, pulmonary valve atresia or stenosis, and transposition of the great arteries. In comparison, the average length of stay for uncomplicated births in 2003 was 2.1 days (CI = 2.1-2.2 days).
The most expensive average neonatal hospital charges were for two congenital heart defects: hypoplastic left heart at $199,597 and common truncus arteriosus at $192,781. Two other cardiac defects, coarctation of the aorta and transposition of the great arteries, were associated with average hospital charges in excess of $150,000, as were two noncardiac BDs, diaphragmatic hernia and gastroschisis. The average hospital charge for uncomplicated births was $1,844 (CI = $1,806–$1,883).
The most commonly identified BDs in this study were hypospadias and/or epispadias and obstructive genitourinary defects; each was identified in more than 13,000 newborns. Following those were Down syndrome (n = 5,036), cleft lip with or without cleft palate (n = 3,486), and pulmonary valve stenosis (n = 2,538). Each of these five common BDs was associated with a low rate of in-hospital death (<3%) and average charges of <$40,000, except pulmonary valve stenosis ($80,814).
Total deaths and charges associated with neonatal admissions for BDs reflect both relative prevalence and severity. Five BDs were associated with at least 250 in-hospital deaths: diaphragmatic hernia, renal agenesis, trisomy 18, hypoplastic left heart, and coarctation of the aorta. Six BDs had total cumulative charges of approximately $200 million or greater in 2003: obstructive genitourinary defect, pulmonary valve stenosis, coarctation of the aorta, transposition of the great arteries, and gastroschisis.
JM Robbins, PhD, TM Bird, MS, JM Tilford, PhD, MA Cleves, PhD, CA Hobbs, MD, PhD, Arkansas Center for Birth Defects Research and Prevention, Dept of Pediatrics, College of Medicine, Univ of Arkansas for Medical Sciences, Little Rock, Arkansas. SD Grosse, PhD, A Correa, MD, PhD, National Center on Birth Defects and Developmental Disabilities, CDC.
BDs account for approximately 20% of total infant deaths in the United States.3 The three BDs accounting for the most deaths associated with neonatal hospitalization were diaphragmatic hernia, renal agenesis, and trisomy 18, and the three leading BDs related to in-hospital mortality rate were anencephaly, trisomy 13, and trisomy 18.
To assess the public health impact of BDs in the newborn period, at least three factors must be considered: (1) the prevalence of BDs among newborns, (2) the frequency of associated deaths, and (3) the length and costs of hospital stays, especially for BDs with low prevalence. Infants with defects requiring immediate surgical repair, such as gastroschisis, omphalocele, common truncus ateriosus, and hypoplastic left heart, tend to stay in the hospital longer after birth and incur greater hospital charges than infants with more common BDs. In addition to newborn hospital stays, certain BDs such as hypoplastic left heart involve staged surgeries requiring multiple hospital stays during infancy; those costs are not included in this report.
The findings in this report are subject to at least three limitations. First, not all defects were accurately recorded in hospital discharge records during the neonatal period. Chart reviews, which are a standard procedure in birth defects registries with active case ascertainment,9 would likely identify additional cases of BDs and exclude some false-positive cases. Second, hospital charges do not reflect actual costs of expenditures by payers for inpatient care, although they do reflect relative costs of hospitalizations for different BDs. Finally, because infants with two or more BDs were assigned to each condition diagnosed, the estimates cannot be aggregated validly across specific defects.
The findings in this report underscore the need for further studies of medical-care utilization and expenditures beyond the neonatal period and analyses of survival among infants identified with BDs in registries.7 Such studies should distinguish outcomes for children with isolated and multiple BDs and by condition of severity, where possible. In addition, surveys of families are needed to quantify the economic and psychosocial effects of BDs on affected children and family members, as has been done for spina bifida.10
REFERENCES: 10 Available.
Hospital Stays, Hospital Charges, and In-Hospital Deaths Among Infants With Selected Birth Defects—United States, 2003. JAMA. 2007;297(8):802–803. doi:10.1001/jama.297.8.802