Congenital Malformations Registry - Summary Report

Summary

This Congenital Malformations Registry Summary Report presents rates of congenital malformations occurring among the 242,659 children who were born alive to New York residents in 2005. The children reported with a major congenital malformation represent 4.8 percent of live births. Males had a higher rate of major congenital malformations than females (5.8 percent versus 3.8 percent), and black children had a higher major malformation rate than white children (6.0 percent versus 4.7 percent). This information is provided through mandated reporting by hospitals and physicians.

Demographic characteristics of those children reported to the Congenital Malformations Registry (CMR) and number of malformations are included in the report. Other sections present the distribution of anomalies by organ system; rates for selected malformations by race and sex and the most common malformations for each county are also included.

This is the seventeenth report from the CMR. Reports are also available by request for the 1983 to 2004 birth cohorts. This report and the reports for 1994-2004 are also available on the Department of Health website. The statistics in this report are

Program Overview

Background

Congenital malformations are the leading cause of infant mortality in the United States.1 They are the fifth leading cause of years of potential life lost and a major cause of morbidity and mortality throughout childhood.1,2 Twenty percent of infant deaths are attributed to congenital malformations,2 a percentage that has increased over time.1,2 Approximately 25 percent of pediatric hospital admissions and about one-third of the total number of pediatric hospital days are for congenital malformations of various types.3 Little is known about the causes of congenital malformations. Twenty percent may be due to a combination of heredity and other factors; 7.5 percent may be due to single gene mutations; 6 percent to chromosome abnormalities; and 5 percent to maternal illnesses, such as diabetes, infections or anticonvulsant drugs.4 Approximately 40 percent to 60 percent of congenital malformations are of unknown origin.4,5

Although radiation and rubella had been linked to birth defects, not until the thalidomide tragedy of the early 1960s was there a widespread interest in possible associations between congenital malformations and environmental agents. During the 1970s, interest continued to grow in birth defects and birth defects surveillance as a result of the growing recognition of the problems of toxic waste dumps such as Love Canal and accidents such as Three Mile Island and Seveso. In response, many states began to develop birth defects registries in order to have data for tracking trends in malformation rates.6,7 A birth defects registry also makes it possible to respond to public concerns about possible excess occurrence of malformations with timely, objective investigations. A birth defects registry can provide cases for traditional epidemiologic studies of specific congenital malformations and provide information for the planning, provision and evaluation of health services.6,7

New York State Congenital Malformations Registry

The New York State Department of Health Congenital Malformations Registry (CMR) is one of the largest statewide, population-based birth defects registries in the nation. The concept of the Congenital Malformations Registry arose out of recognition of the environment as a potential etiologic factor in the occurrence of congenital malformations. Health studies during the Love Canal crisis in 1978 to 1983 confirmed the inadequacies of relying on birth certificates to monitor and evaluate birth defects.

New York's Congenital Malformations Registry was established by enactment of Part 22 of the State Sanitary Code in 1981. Reporting to the registry began in October 1982. Hospitals and physicians are required to report children under two years of age diagnosed with a malformation. The majority of reports are sent by hospitals, primarily from their medical records departments. A small number are sent by individual physicians to verify diagnoses initially suspected in the hospital but confirmed on an outpatient basis, and to clarify nonspecific diagnoses reported by hospitals.

The Congenital Malformations Registry receives case reports on children diagnosed up to two years of age who were born or reside in New York State with a congenital malformation, chromosomal anomaly or persistent metabolic defect. For purposes of this registry and report, a congenital malformation is defined as any structural, functional or biochemical abnormality, determined genetically or induced during gestation and not due to birthing events.

Case reports are received electronically on the Internet using the Health Provider Network (HPN). The Department of Health developed the HPN as a secure system for electronically collecting and distributing health-related data. Pertinent fields are coded and the narrative description of the malformation is converted to a code. The case report is matched to existing registry reports for possible duplicates. Data submitted on HPN using either online data entry forms or file upload facility are transferred to a DOH UNIX server for updating of the CMR database.

All information reported to the registry is held in strict confidence. Records and computer files are maintained in accordance with DOH regulations concerning data containing individual identifiers. Access to the data by anyone other than registry personnel is restricted and carefully monitored to ensure that confidentiality is maintained. Families of children reported to the registry are never contacted without prior consent of the DOH's Institutional Review Board and notification of the child's physician.

2005 Report

This current report presents statistics for major anomalies only (see Appendix 1 and the glossary of birth defects in Appendix 5). This is in accordance with the practices of other state birth defects registries and allows comparison between New York State rates and rates in other states. Minor anomalies may cause problems in the determination of malformation rates because they are common and variably reported. They may not even be recorded in the medical chart.

The statistics in this report are

CMR Birth Cohort reports are intended as a resource for programs providing primary, secondary and tertiary preventive health care and for public officials concerned with reducing overall mortality and morbidity. The first annual cohort included children born in 1983 and reported with a malformation diagnosed before their second birthday.9 This report describes children born in 2005 and diagnosed before their second birthday. Reports are also available for the 1984 through 2004 birth cohorts. Some reports and additional information are available through the DOH Web site.

Limitations

Care should be taken in the use of these data. Virtually all reports are abstracted from inpatient hospital records, since malformations diagnosed on an outpatient basis are not well reported. Accurate hospital clinical recognition of malformations depends on clinical acumen and interest. This is particularly true of conditions more difficult to diagnose, such as fetal alcohol syndrome. Consequently, identification of malformations may vary by area and by time. The abstracting of records requires well-trained medical records professionals who are fastidious in their reporting of such findings. Areas with hospitals that provide higher levels of care may have more thorough diagnoses and, thus, apparently higher rates. Similarly, areas with hospitals that report cases more completely will also appear to have higher rates. In regions with low numbers of births, small variations in incidence may produce large statistical fluctuations.

New York State Population

Based on the U.S. 2000 census, the population of New York State was about 19.0 million; more than 42 percent of the population lived in New York City. An additional 23 percent of the population lived in the six counties closest to New York City. In 2005, there were 242,659 resident live births reported to the state's vital registration, 16.9 percent to black mothers, and 23.3 percent to Hispanic mothers. In accordance with the practices of other state birth defects registries, the race of the child is based on race of the mother only. Nearly 48.2 percent of live births were to New York City residents.

References

  1. Kochanek KD, Hudson BC. Advanced report of final mortality statistics, 1992. Monthly Vital Statistics Report 1995; 43(6 suppl.). Hyattsville (MD):National Center for Health Statistics, 1995.
  2. Centers for Disease Control. Contribution of birth defects to infant mortality - United States 1986. MMWR 1989; 38:633-635.
  3. Epstein CJ. Genetic disorders and birth defects. In: Pediatrics, Rudolph AM, Hoffman JIE, Axelrod S, eds. Norwalk: Appleton & Lange, 1987:209-210.
  4. Kalter IT, Warkany J. Congenital malformation etiologic factors and their role in prevention. Parts I and II. N Engl J Med 1983; 308:424-431, 491-497.
  5. Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med 1989; 320:19-23.
  6. Holtzman NA, Khoury MJ. Monitoring for congenital malformations. Ann Rev Public Health 1986; 7:237-266.
  7. Lynberg MC, Edmonds LD. Surveillance of birth defects. In: Public Health Surveillance, W Halpern and E Baker, eds. Van Nostrand Reinhold, NY, 1992:157-176.
  8. Merlob P, Papier CM, Klingberg MA, Reisner SH. Incidence of congenital malformations in the newborn, particularly minor abnormalities. In: Marois, ed. Prevention of physical and mental congenital defects, Part C: Basic and medical sciences, education and future strategies. Proceedings of a conference of the Institut de la Vie. New York: Alan R. Liss, 1985: 51-53.
  9. New York State Department of Health. Congenital Malformations Registry Annual Report: 1983 Birth Cohort.