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This paper was published with modifications in Archives of Pediatric Adolescent Medicine,  1997 Nov 1; 151(11): 1096-1103

Contribution of Birth Defects and Genetic Diseases to Pediatric Hospitalizations: A Population-Based Study

by Paula W. Yoon, ScD, MPH; Richard S. Olney, MD MPH; Muin J, Khoury, MD, PhD; William M. Sappenfield, MD; Gilberto F. Chavez, MD, MPH; Don Taylor, MA

Abstract

Objective.--To estimate the contribution of birth defects and genetic diseases to pediatric hospitalizations by use of population-based data.

Design.--Hospital discharges were categorized according to the diagnostic codes of The International Classification of Diseases, Ninth Revision, Clinical Modification. Hospitalizations that were related to birth defects and genetic diseases were compared with hospitalizations for other reasons with respect to age, race/ethnicity, sex, length of stay, charges, source of payment, and mortality rate. Hospitalization rates and per capita charges were computed with the use of population estimates from 1990 census data.

Materials.--The 1991 population-based hospital discharge data from California and South Carolina

Results.--Nearly 12% of pediatric hospitalizations in the 2 states combined were related to birth defects and genetic diseases. These children were, on average, 3 years younger, stayed 3 days longer in a hospital, incurred 184% higher charges, and had a 4-1/2 times greater in-hospital mortality rate than children hospitalized for other reasons. The rate of hospitalizations that were related to birth defects and genetic diseases was 4 per 1000 children in both states, but these rates varied by age and race.

Conclusions.--These population-based data are the first contemporary findings to show the substantial morbidity rate and hospitalization charges associated with birth defects and genetic diseases in the pediatric population.

Implications.--This information is important for planning effective health care strategies, especially as the causes, treatments, and prevention of these disorders are being further elucidated by findings from by human genome research and epidemiologic studies.

Birth defects and genetic diseases are the leading cause of infant mortality and contribute substantially to morbidity and mortality rates among children.1,2 Hospital-based studies from the 1970s have estimated that nearly 30% to 40% of pediatric admissions are associated with birth defects and genetic diseases.3,4 Recent studies have shown that with improvements in perinatal management and advances in neonatal intensive care, these disorders constitute an increasingly important component of the workload in neonatal and pediatric intensive care settings.5-8 Compared with other children who are admitted to intensive care units, infants and children with birth defects and genetic diseases tend to stay longer in a hospital, incur higher expenses, and have higher readmission and higher mortality rates.3-8 Although it is known that children who are born with congenital anomalies often require special medical services, education and rehabilitation, the economic impact of these illnesses and disabilities on society is difficult to quantify. A study in the early 1980s estimated that congenital anomalies cost $6.3 billion annually.9 A more recent study estimated that the 18 most clinically significant birth defects in the United States cost $8 billion in 1992.10 As the causes of birth defects and genetic diseases are being further elucidated by human genome research and epidemiologic studies, and as new treatments and prophylactic therapies are being advanced, the relative impact of these diseases and disabilities on pediatric hospitalizations is likely to change. We currently have insufficient contemporary population-based information about the prevalence of birth defects and genetic diseases among children who are admitted to hospitals, or about the costs of treating these children, and such information is needed for planning effective health care strategies. The aim of our study was to use a population-based approach to estimate the contribution of birth defects and genetic diseases to hospitalizations among children beyond their first hospitalization at birth. Using hospital discharge data from 2 states, we examined the rates of hospitalizations for children with birth defects and genetic diseases, and we compared these children with children who were hospitalized for other reasons, with respect to age, race/ethnicity, sex, length of stay, hospitalization charges, and mortality rate.

Methods

We conducted this study with the use of 1991 hospital discharge data from California and South Carolina. The data contained medical and demographic information on every discharge from all short-stay, nonfederal hospitals (i.e., those with short lengths of stay for patients) in each state. Such hospitals accounted for more than 95% of all pediatric hospitalizations. In California and South Carolina, a standard data format is used for Medicare claims (UB [uniform billing]-82), and it includes information on patients' characteristics, admission and discharge dates, diagnoses, procedures, charges, discharge status, and method of payment. In about two-thirds of the hospitals, the medical records personnel transcribe the information from patient medical records to the hospital discharge abstracts.11 In the other hospitals, a commercial abstracting service may be contracted to do the work. Each record in the California hospital database contained The International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM)12 codes for the principal diagnosis and up to 24 secondary diagnoses. The South Carolina hospital database contained the ICD-9-CM codes for the principal diagnosis and up to nine secondary diagnoses. The principal diagnosis was the condition that was chiefly responsible for the patient's admission to the hospital, while the secondary diagnoses were additional conditions that contributed to the hospitalization.

We began with data tapes from California and South Carolina that included 1991 hospital discharges among persons less than 20 years. Since we were interested in estimating the contribution of birth defects and genetic diseases to hospitalizations after birth, we omitted all admissions that were made at birth and for deliveries from both data sets. Neonatal transfers from the hospital where the patient was born were not omitted from the data sets. Admissions at birth and for deliveries accounted for 56% of all admissions in South Carolina and 68% of all admissions in California. For the remaining data (all discharges among persons less than 20 years, excluding those admitted at birth or for delivery), we examined all of the diagnostic fields using a list of ICD-9-CM codes (Appendix A) to determine which hospitalizations were for causes related to birth defects and genetic diseases. We classified them into 17 categories based on the principal diagnosis. In a few cases in which the principal diagnosis was not a congenital anomaly, the hospitalization was classified by the first diagnostic field to contain an ICD-9-CM code for a birth defect or genetic disease.

We compared the children with hospitalizations that were related to birth defects and genetic diseases with all other hospitalized children with respect to age, race/ethnicity, sex, length of stay, total charges, sources of payment, and in-hospital mortality rate. We also determined the average age, length of stay, total charges, and in-hospital mortality rate (defined as deaths per 100 hospitalizations) for children in the 17 birth defect or genetic disease categories. Finally, we calculated hospitalization rates for children in specific age and race/ethnic categories, as well as per capita charges for each state. The denominators for the rate calculations were obtained from the 1991 population projections for each state that were based on the 1990 census. The data from California are presented for the 3 largest racial/ethnic groups in the state: white, black and Hispanic. The data from South Carolina are presented for the 2 largest racial groups in the state: white and black, (except for table 1 that presents the total number of hospitalizations for Hispanic children). In 1991, in South Carolina, there were approximately 1 million citizens under 20 years, while in California there were 9 million in this age group. The distribution of the population younger than 20 years in South Carolina for 1991 was 61% white, 38% black and 1% other races. The distribution in California was 45% white, 8% black, 36% Hispanic and 11% other races. The hospital discharge data that we used in this study did not contain personal identifiers, so our findings are based on the frequency of hospitalizations, which does not account for the number of hospitalizations per individual per year.

Results

In 1991, hospitalizations that were related to birth defects and genetic diseases accounted for 9% and 12% of hospitalizations and 12% of California hospitalizations among persons less than 20 years of age (Table 1). These proportions varied by race/ethnicity. Figure 1 shows the proportion of hospitalizations that were related to birth defects and genetic diseases by race/ethnicity and age. In both states, the highest proportions for all racial or ethnic groups combined were for infants less than 1 year (12.5% in South Carolina and 18.7% in California). The proportion of hospitalizations that were related to birth defects and genetic diseases consistently decreased with increasing age to a low of 5% or less for children 15 to 19 years. Although the overall percentage of hospitalizations that were related to birth defects and genetic diseases was higher in California, both states had a similar pattern of hospitalizations for white children, with proportions highest among infants and steadily declining with increasing age. Compared with white children, Hispanic children in California had slightly lower proportions of hospitalizations that were related to birth defects and genetic disease in all age groups, except the 10- to 14-year-old age group, but the pattern of decline with increasing age was similar. The pattern was different for blacks in both states. In South Carolina, black children in the 5- to 9-year-old age group had the highest proportion of hospitalizations that were related to birth defects and genetic diseases (16.2%) and in California, black children in the 10- to 14-year-old age group had the highest proportion (18.9%). Figure 2 shows the rates of hospitalizations that were related to birth defects and genetic diseases by race/ethnicity and age. The rate of such hospitalizations among all persons less than 20 years was 4 per 1000 in both South Carolina and California. Among infants, the rate was 23 per 1000 in South Carolina and 26 per 1000 in California. In the pre-school age group (age range, 1-4 years), the rates dropped to 5 per 1000 in South Carolina and 4 per 1000 in California. For older children (age range, 5-19 years), the rate of hospitalizations that were related to birth defects and genetic diseases was 2 per 1000 in both South Carolina and California.

The rates of hospitalizations that were related to birth defects and genetic diseases varied by race/ethnicity in the 2 states (Figure 2). In both South Carolina and California, black children had the highest rates of hospitalizations that were related to birth defects and genetic diseases. In both states, the rate for all ages combined was 1.8 times higher among black children than among white children. In California the rate for Hispanic children was slightly less than for white children (3.6 per 1000 vs. 4.2 per 1000). In both states, the greatest difference in the rates between white and black children occurred in the older age groups (age range, 10-19 years) for which hospitalization rates were from 2.2 to 3.1 times greater among black children. In this same age group, Hispanic children in California had lower rates than white children. Population data on the number of Hispanic children in South Carolina in 1991 were not available.

Compared with other types of hospitalizations (table 2), hospitalizations that were related to birth defects and genetic diseases tended to be longer and had higher in-hospital mortality rates (the number of deaths per 100 hospitalizations). In South Carolina, children who were hospitalized with these disorders were on average 3 years younger, stayed 1.6 days longer, and had a 3-1/2 times greater in-hospital mortality rate than children who were hospitalized for other reasons. Infants younger than 1 year had the longest hospital stays (average, 7.6 days) and the highest in-hospital mortality (2.8 per 100). The length of stay and mortality rate decreased after infancy but began to rise again at the ages of 10 to 14 years. More boys than girls were hospitalized for conditions that were related to birth defects and genetic diseases (57% vs. 43%), although slightly more girls were hospitalized for other reasons (49% vs. 51%).

In California, children who were hospitalized with these disorders were about 3 years younger, stayed 3 days longer, and had a 4-1/2 times greater in-hospital mortality rate than children who were hospitalized for other reasons (Table 2). Infants younger than 1 year had the longest stays (average, 12.4 days) and an in-hospital mortality rate that was approximately 5 times higher than that for the other age groups. The length of stay decreased after infancy but began to rise again at the ages of 10 -14 years. The mortality rate also decreased after infancy but never increased. More boys than girls were hospitalized for conditions that were related to birth defects and genetic diseases (57% vs. 43%), as well as for other reasons (54% vs. 46%).

In both South Carolina and California, black children who were hospitalized for conditions that were related to birth defects and genetic diseases were, on average, older than white or Hispanic children (South Carolina: 6 vs. 5 years for white children and 5 years for Hispanic children; California: 7 vs. 5 years for white children and 3-1/2 years for Hispanic children). As presented in table 2, in South Carolina, black and Hispanic children stayed slightly longer in the hospital (6.1 days) and white children had the highest in-hospital mortality (1.8 per 100). In California, Hispanic children stayed longer in the hospital (9.8 days) and had the highest in-hospital mortality (3.2 per 100).

The charges for hospitalizations that were related to birth defects and genetic diseases accounted for 16 % and 28% of all pediatric hospitalization charges in South Carolina and California, respectively (Table 3). These proportions are highest among infants (28% and 51% of total charges in South Carolina and California, respectively). On average, in South Carolina, the charges for hospitalizations that were related to birth defects and genetic diseases were 88% higher than for other types of hospitalizations; in California, the charges were 185% higher. On a per capita basis, charges for hospitalizations that were related to congenital anomalies were $34 for every child younger than 20 years in South Carolina and $107 for every child younger than 20 years in California (Table 3). Among infants younger than 1 year, such hospitalizations charges were $267 for every infant in South Carolina and $989 for every infant in California. As given in table 4, hospitalizations that were related to birth defects and genetic diseases were more often paid for by government sources than were other hospitalizations.

Of the 17 conditions listed in Table 5, the sickle cell diseases and thalassemias and also cardiovascular defects accounted for 43% of all hospitalizations that were related to birth defects and genetic diseases in South Carolina, and 35% in California. The other categories of birth defects and genetic diseases that were most prevalent among children hospitalized after birth in both states were other structural, central nervous system, eye, gastrointestinal, and genitourinary defects. The mean ages of hospitalized children were highest for the hereditary immunodeficiencies and other single-gene disorders, and they were lowest for cardiovascular and gastrointestinal defects and fetal alcohol syndrome. In South Carolina, the longest mean length of stay in the hospital was for cystic fibrosis, cardiovascular defects, and hereditary neurologic or storage diseases; in California, it was for fetal alcohol syndrome, cardiovascular defects, and hereditary neurologic or storage diseases. In South Carolina, the 3 most costly hospitalizations were those for cardiovascular defects, other structural defects, and cystic fibrosis. In California, the 3 most costly hospitalizations were for cardiovascular defects, hereditary neurologic or storage diseases, and fetal alcohol syndrome. In-hospital mortality for various birth defects and genetic diseases ranged from 0% to 5.8%. In South Carolina, there were 2 categories with mortalities greater than 3% (i.e., for hereditary neurologic or storage diseases, and cardiovascular defects); in California there were 4 such categories (i.e., cardiovascular defects, chromosomal defects, hereditary neurologic or storage diseases, and hereditary metabolic disorders).

Table 6 gives the rates of hospitalizations that were related to birth defects and genetic diseases with respect to white and black race. In South Carolina, black children had higher rates of hospitalizations for 10 of the 17 birth defect categories compared to white children, while in California, black children had higher rates of hospitalizations for 6 of the categories. In both states, sickle cell diseases accounted for half of all hospitalizations that were related to birth defects and genetic diseases for black children.

Comment

This population-based study used hospital-discharge and census data from 2 states to estimate the contribution of birth defects and genetic diseases to pediatric hospitalizations. In 1991, hospitalizations that were related to birth defects and genetic diseases accounted for 9% and 12% of all pediatric hospitalizations in South Carolina and California, respectively. These estimates are considerably less than the 30% to 40%, which were estimated from pediatric hospital-based studies in the 1970s.3,4 We believe that there are at least 2 reasons for the differences in these estimates: (1) the difference between a population- and hospital-based approach, and (2) the birth defect and genetic disease diagnostic categories that were included in the studies.

The hospital-based studies were each conducted in 1 pediatric hospital, which drew patients from unique referral areas and had a limited number of hospitalizations. It is also likely that children who are admitted to pediatric hospitals are sicker, have more complex conditions, and require more technologically advanced and costly care than children who are admitted to non-specialty hospitals. Our population-based study, which included nearly all hospitals in each state, is likely to be more representative of the general population. There were a number of multifactorial disorders included in the hospital-based studies that did not fit our more narrow definition of birth defects and genetic diseases. These disorders (e.g., diabetes, asthma, hypertension, atopic hypersensitivity, and idiopathic epilepsy) contributed substantially to the overall prevalence estimates in the hospital-based studies. We reanalyzed the data from 2 of the hospital-based studies and excluded those disease categories that were not included in our study. We found that in the study by Scriver et al,4 the frequency of birth defects and genetic diseases would have been 19% if we had used our standards, and in the study by Hall et al,3 the frequency would have been 24%. Although we recognize that genetic components play a role in nearly all pediatric hospitalizations (with the exceptions of injuries), we chose to focus on conditions with single-gene etiologies and on major structural anomalies; this narrow focus may have resulted in conservative prevalence estimates.

Our data were based on a pediatric population (age, < 20 years) of 10,054,681 individuals from 2 ethnically and geographically diverse states. Given this diversity and the differences in the structure of the health care systems in California and South Carolina, it was interesting to find similar patterns of hospitalizations for birth defects and genetic diseases in both states. Infants accounted for the greatest proportion of hospitalizations, and they had the longest and most costly hospitalizations and the highest rate of in-hospital mortality. In both states, the length of stay and charges decreased after infancy but rose again at approximately 10 years of age. This was true for both hospitalizations that were related to birth defects and genetic diseases and those that were not (Table 2). Data from the National Hospital Discharge Survey have shown that the rates of discharges for children younger than 15 years are highest for infectious and parasitic diseases, acute respiratory tract infections, pneumonia, asthma, injuries, poisoning, and conditions that arise in the perinatal period. A study of hospitalizations for these conditions by age may reveal why the length of stay and charges rose slightly in the 10- to 14-year-old age group.11 The differences between the 2 states in the charges for hospitalizations and average length of stay may be the result of differences in hospitalization procedures, as well as differences in their health-care-provider and payment systems. A more detailed review of hospitalization procedures, charges and payment sources would be necessary to determine the reason for higher charges and longer lengths of stay in hospitals in California.

The overall rate of hospitalizations that were related to birth defects and genetic diseases (4 per 1000) varied by age and race/ethnicity, but again, the patterns were similar in the 2 states. Among the black and white children, rates were high for infants, decreased sharply for those in the preschool years (age range, 1-4 years), and leveled off for 5- to 19-year-old patients. In both states, black children had consistently higher rates of hospitalizations that were related to birth defects and genetic diseases than white or Hispanic children, however, in California, Hispanic children had consistently lower rates. Sickle cell diseases accounted for nearly half of all pediatric hospitalizations among black children. This is likely to be a major factor in the higher rates of hospitalizations among blacks compared with those among white and Hispanic children. The prevalence of other birth defects would have little effect, since for all major birth defects combined, black children have slightly lower rates compared with white children (based on unpublished data from the Metropolitan Atlanta Congenital Defects Program, Atlanta, GA, 1968-1995).13 In California the highest proportion of black children who were hospitalized for birth defects and genetic diseases were in the 10- to 14-year-old age group, while in South Carolina, they were in the 5- to 9-year-old age group. These differences may be a reflection of factors that we were unable to consider in this study (e.g., access to care and the severity and nature of the conditions which led to hospitalization).

Hospitalizations that were related to birth defects and genetic diseases cost proportionately more than other types of hospitalizations. In South Carolina, such hospitalizations accounted for 9% of all hospitalizations but 16% of all hospitalization charges. In California, they accounted for 12% of all hospitalizations and 28% of all hospitalization charges. The per capita charges for such hospitalizations, particularly among infants, demonstrate the impact of these disorders on health care resources. In 1991, in South Carolina, the per capita charges for infants was $267; in California, it was $989. These figures, which are in 1991 dollars, would be significantly higher today because of the inflation factor in the medical care component of the consumer price index. The cost for hospitalizations that are related to birth defects and genetic diseases is a burden that is borne disproportionately by the public sector. In this study, a greater proportion of these hospitalizations were paid by Medicaid or Medi-Cal and other government sources compared with other types of hospitalizations. Charges for hospitalizations that were related to birth defects and genetic diseases were less likely to be paid by private insurance or to be covered by health maintenance organizations.

The birth defect and genetic disease categories presented in Table 5 demonstrate the wide range of disorders that contribute to hospitalizations in the pediatric population. The frequency distributions, length of stay, and average charges show that some disorders require a particularly high commitment of health care resources. For example, cardiovascular defects account for a high proportion of hospitalizations that are related to birth defects and genetic diseases in both states and have the highest average charges per hospitalization. The sickle cell diseases and thalassemias, on the other hand, also represent a high proportion of hospitalizations that are related to birth defects and genetic diseases; yet, the average charges are relatively low.

One of the primary limitations of the hospital discharge data used in this study was the lack of personal identifiers. We were not able to determine the number of hospitalizations per person; therefore, could not quantify the financial impact of birth defects and genetic diseases on individuals and families. This, however, did not limit our ability to use the data for estimating the financial and health care resource impact on society. Large computerized databases of hospital discharge abstracts are being used more frequently to investigate outcomes of hospitalization (e.g., mortality and morbidity rates), but the limitations of the data are often overlooked. A study of California's 1988 hospital discharge data reported coding error rates of 9% for the principal diagnosis and 14.9% for comorbidity when four 4 secondary diagnostic fields were used.14 When the number of secondary diagnostic fields was increased from 4 to 8, the error rate for comorbidity decreased to 6.6%. Prior studies of hospital discharge data identified the sources of errors as insufficient documentation of medical records, ambiguities in the ICD-9-CM framework, and difficulties in designating the principal diagnosis.15,16 Demographic variables (e.g., sex, age, and length of stay) are coded incorrectly less than 0.5% of the time.14 Additional studies have shown that errors in the coding of diagnoses vary by disease category. Cancer incidence rates17 were found to be accurate when estimated from hospital discharge data, whereas chronic cardiovascular diseases had high rates of diagnostic coding errors.18 The rate of coding errors for the birth defects and genetic diseases in our study is unknown, but by relying on 10 diagnostic fields in the South Carolina data and 25 diagnostic fields in the California data, we feel confident that we have minimized underreporting of the proportion of hospitalizations in these two states that were related to birth defects and genetic diseases. The accuracy and reliability of the information in the medical records is an issue for all studies that use data derived from medical records.

In summary, our study of hospital discharge data from 2 states showed that birth defects and genetic diseases account for a high percentage of pediatric hospitalizations, and these hospitalizations are proportionally more costly than other types of pediatric hospitalizations. The rates for hospitalizations that were related to birth defects and genetic diseases were higher for infants compared with older children, and they were higher for black children compared with white and Hispanic children. These findings are important for planning effective health care services, particularly in light of current changes in the provision of health services and concerns about access to care.

  • Tables & Figures

    • References

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