Abstracts of CMR Recent Publications

  1. Applegate MS, Druschel CM. The epidemiology of infantile hypertrophic pyloric stenosis in New York State: 1983-1990. Arch Pediatric Adolesc Med 1995; 149:1123-1129.

    Abstract. Objective: To investigate an apparent decline in infantile hypertrophic pyloric stenosis (IHPS) and to examine the characteristics of children with IHPS and any associated malformations. Design. Cohort study, children with IHPS are compared with the population of live births. Trends of IHPS compared in two data sets: a population-based birth defects registry and hospital discharge data. Participants: Children with IHPS identified from a birth defects registry and the population of infants live born to residents of New York State from 1983 to 1990. Main Outcome Measure: Trends in the incidence of IHPS in two data sets, demographic characteristics and malformations associated with IHPS. Results: IHPS declined from 2.4 per 1,000 live births in 1984 to 1.7 in 1990. White race and male gender were associated with a higher occurrence of IHPS; high birth order, older maternal age, higher maternal education and low birthweight were associated with lower occurrence. Seven percent of children with IHPS had a major malformation compared with 3.7% of the general population. Three major malformations occurred more frequently in children with IHPS: intestinal malrotation, obstructive defects of the urinary tract and esophageal atresia. Fewer cases were found in the birth defects registry compared with hospital discharge data. Conclusions: There is underreporting of IHPS to the birth defects registry accounting for some of the decline. Children with IHPS have more major malformations compared with the general population, although some of the excess could be attributed to increased detection. Further investigation is needed into the environmental and socioeconomic factors associated with IHPS.

  2. Druschel CM. A descriptive study of prune belly in New York State, 1983-1989. Arch Pediatr Adolesc Med 1995; 149:70-76.

    Abstract. Objective: To determine the prevalence and spectrum of prune belly in a defined population. Design: Population-based descriptive study using New York State's Congenital Malformations Registry (CMR). Setting: The CMR is a statewide registry of children diagnosed with congenital anomalies before the age of two years. Cases were children with prune belly born during the years 1983 to 1989 to women resident in New York State and verified by medical record review. Main Outcome Measures: The live birth prevalence of prune belly for the total population and for population subgroups, such as race, sex, plurality, maternal age. The occurrence of other malformations with prune belly. Results: Sixty cases were ascertained, 50 male and 10 female. The live birth prevalence was 3.2 per 100,000 and declined over the time period. The prevalence was higher in males, 5.1 per 100,000 than females, 1.1; and higher in blacks, 5.8 than whites, 2.6. The live birth prevalence in twins, 12.2 per 100,000, was four times higher than in singletons, 3.0. More than 60% of cases died, most in the first week. Seventy percent of cases had one of the commonly described associated defects. Pulmonary hypoplasia was the most common. Almost one-third of the cases had defects other than those typically associated with prune belly. Conclusions: Twins, black and younger mothers appear to be at higher risk. Mortality remains high, especially early, with many deaths due to pulmonary hypoplasia. Further studies should include stillborn and terminated cases.

  3. Druschel CM, Hughes J, Olsen CL. Mortality among infants with congenital malformations in New York State, 1983-1988. Public Health Rep 1996; 111:359-365.

    Abstract. While the majority of infant deaths are due to congenital anomalies, few studies specifically look at their mortality experience. This study examines the mortality of infants born from 1983 to 1988 ascertained from a statewide population-based Congenital Malformations Registry and risk factors for first-year mortality. Variables analyzed were the year of birth, birthweight, gestational age, infant sex, number of malformations, number of organ systems, level of care of the birth hospital, maternal age, maternal race and maternal education. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.4 in 1983 to 5.9 in 1988. The survival for whites and blacks after adjusting for other factors was similar. Having a malformation outweighs most of the other usual risks for infant mortality.

  4. Druschel CM, Hughes JP, Olsen CL. First year of life mortality among infants with oral clefts: New York State, 1983-1990. Cleft Palate Craniofacial J 1996; 33(5):400-405.

    Abstract.This study examined the mortality experience of children with oral clefts using the New York State Congenital Malformations Registry. Infants born in the years 1983 to 1990 to New York residents, diagnosed with an oral cleft and matched to their birth certificate were included in the analysis. Children with oral clefts were compared with a sample of live births from the years 1983-1990 without malformation. Children with cleft palate without additional malformations had a statistically nonsignificant adjusted risk of 1.2 when compared with children with no malformations. Children with cleft lip with or without cleft palate had a 1.1 adjusted risk. However, 35% of children with oral clefts had associated malformations and experienced much higher mortality. Children with oral clefts should be carefully evaluated for additional malformations. If none are found, their mortality appears not to be elevated.

  5. Olsen CL, Polan AK, Cross PK. Case ascertainment for state-based birth defects registries: characteristics of unreported infants ascertained through birth certificates and their impact on registry statistics in New York State. Paediatr Perinat Epidemiol 1996; 10:161-174.

    Abstract. Cases in the New York State Congenital Malformations Registry are reported by hospitals and physicians. This study was undertaken to determine whether case finding should be expanded to include routine matching of vital records files to the registry to identify unreported children. Matching of children who were born in 1983-1986 and who had a congenital malformation noted on their birth certificate yielded 2,837 children who were not in the registry. The hospital of record was asked to submit a registry report if the child's medical record contained a congenital malformation. Medical records for 1,267 (45%) of these children indicated that the child was normal, with no mention of a malformation. Medical records could not be located for 137. Registry reports were submitted for 1,433; 67 of whom were subsequently found in the registry, leaving 1,366 bona fide new cases. These new cases differ significantly from registry cases for a number of birth certificate variables and type of congenital malformation. The birth certificate cases were more likely than registry cases to have only one malformation and to have only a minor malformation. The 1,366 new cases comprised 2.1% of all registry cases for 1983-1986. Their addition increased the statewide prevalence of major malformations by 1.7%, from 416.5 to 423.4 per 10,000 live births. Except for anencephaly, the prevalence of specific malformations was not altered measurably by the addition of these cases. Lengthy and continuous follow-up was required to obtain registry reports. The small number of cases found does not seem to justify the amount of resources that would be required to routinely use birth certificates to augment case finding in New York State.

  6. Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population aging, and changing fertility rates on the live birth prevalence of Down Syndrome in New York State, 1983-1992. Prenatal Diagnosis 1996; 16:991-1002.

    Abstract. The incidence of Down syndrome (DS) at conception is highly dependent upon the maternal age distribution and age-specific pregnancy rates. Live birth prevalence of DS reflects these factors and fetal deaths. This study examined DS live birth prevalence from 1983-1992 in New York State and analyzed the effects of demographic changes and prenatal diagnosis use on the observed live birth prevalence. Expected DS live birth prevalence without prenatal diagnosis was calculated and compared to the observed prevalence. Data were obtained from the birth defects registry, vital records and population data maintained by the New York State Department of Health. Over time, DS live birth prevalence was stable at about 10.4 per 10,000 live births. The percentage and number of women in the population above age 30 increased, as did birth rates among these women. Birth rates among younger women decreased. The proportion of DS babies born to women aged 35 and over increased from 27.1% to 34.1%. Use of prenatal diagnosis by this age group ranged from 39.6% to 43.2%, and increased steadily from 1.8% to 4.3% among women under 35. Detection of DS fetuses increased from 82 in 1985 to 233 in 1992. Without prenatal diagnosis, DS live birth prevalence in 1992 would have reached 15.3 per 10,000 live births compared with the 10.2 observed. Prenatal diagnosis has prevented an increase in DS live birth prevalence but has not been sufficient to reduce live birth prevalence significantly.

  7. Olsen C. L., Hughes, J. P., Youngblood, L. G., and Sharpe-Stimac, M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. American Journal of Medical Genetics 1997; 73:217-226.

    Abstract. Holoprosencephaly is a congenital defect of the median structures of the brain and face. The epidemiology is poorly known due to the paucity of population-based studies. This study describes the epidemiology of holoprosencephaly in a large population, using cases identified through the New York State Congenital Malformations Registry. The authors describe the range and co-occurrence of craniofacial abnormalities present, and examine the correspondence between the severity of craniofacial abnormalities, chromosomal abnormalities and severity of the brain defect. Liveborn cases totaled 78, yielding a prevalence of 4.8 per 100,000 live births. Prevalence among females was nearly double that in males, and was 4.2 times higher among infants of mothers under age 18 compared with infants of older mothers. Only 9.8% of all cases had no craniofacial abnormalities other than the brain defect. Eye malformations were present in 76.8%, nose malformations in 69.5%, ear malformations in 50% and oral clefts in 41.5%. These malformations arise at different times during gestation. The variability in patterns of their co-occurrence suggests variability in the time during gestation when holoprosencephaly arises, which in turn supports a model of multiple causality. Children with alobar holoprosencephaly tended to have the most severe craniofacial anomalies, but the correspondence was not 100%. Similarly, craniofacial phenotype does not discriminate between cytogenetically normal and abnormal cases.