Deaths associated with renal agenesis: A population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity

Christopher M Cunniff, R. S. Kirby, J. W. Senner, C. Canino, M. A. Brewster, B. Butler, S. J. Hassed, P. Murphy

Research output: Contribution to journalArticle

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Abstract

We report on deaths associated with renal agenesis among 211,704 consecutive births. Sources included birth and death certificates and an active birth defects surveillance system. Medical review and classification of cases were performed for 1985-1990 events. Sixty-one cases of renal agenesis were identified, and review of records was possible for 59 of the 61 cases. Of these 59 cases, 36 (61%) were confirmed, 5 (8%) were questionable, and 18 (31%) were incorrectly coded. The prevalence of confirmed cases is thus estimated at 17/100,000 births (14.2/100,000 births, excluding elective terminations and fetal deaths). Records incorrectly coded were most often those with multicystic dysplasia. Approximately one-third of cases was found by the birth defects surveillance system alone, confirming the utility of this data source for prevalence estimates. Isolated renal agenesis accounted for 44% of confirmed cases; other diagnoses included VATER association (19%), unrecognized multiple malformation syndromes (17%), exstrophy of the cloaca sequence (14%), and chromosome disorders (6%). Based on these data, prevalence rates for ICD code 753.0 and death include overascertainment of cases from erroneous coding of multicystic dysplasia and underascertainment of cases with unilateral renal agenesis associated with other malformations. Population-based ascertainment of cases by active surveillance methods and rigorous diagnostic coding standards are required to improve the accuracy of these rates. Targeted investigations of distinct subclassifications will be necessary to identify specific etiologic factors.

Original languageEnglish (US)
Pages (from-to)200-204
Number of pages5
JournalTeratology
Volume50
Issue number3
DOIs
StatePublished - 1994

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Cross-Sectional Studies
Parturition
Defects
Chromosomes
Population
Chromosome Disorders
Cloaca
Birth Certificates
Chromosomes, Human, Pair 6
Death Certificates
Fetal Death
Information Storage and Retrieval
International Classification of Diseases
Hereditary renal agenesis

ASJC Scopus subject areas

  • Developmental Biology
  • Embryology
  • Toxicology
  • Health, Toxicology and Mutagenesis

Cite this

Deaths associated with renal agenesis : A population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. / Cunniff, Christopher M; Kirby, R. S.; Senner, J. W.; Canino, C.; Brewster, M. A.; Butler, B.; Hassed, S. J.; Murphy, P.

In: Teratology, Vol. 50, No. 3, 1994, p. 200-204.

Research output: Contribution to journalArticle

Cunniff, Christopher M ; Kirby, R. S. ; Senner, J. W. ; Canino, C. ; Brewster, M. A. ; Butler, B. ; Hassed, S. J. ; Murphy, P. / Deaths associated with renal agenesis : A population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. In: Teratology. 1994 ; Vol. 50, No. 3. pp. 200-204.
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