Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe

• Published in: American journal of medical genetics Vol. 103; no. 3; pp. 207 - 215
• Main Author: Cuschieri, Alfred
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 15-10-2001; Wiley-Liss
• Subjects: anal atresia; Anal Canal - abnormalities; anal fistula; Anus, Imperforate - epidemiology; Biological and medical sciences; Cloaca - abnormalities; ectopic anus; epidemiology; Europe - epidemiology; Female; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Incidence; Male; Malformations; Medical sciences; Odds Ratio; persistent cloaca; Prevalence; Rectal Fistula - congenital; Rectal Fistula - epidemiology; Registries; Sex Factors; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Europe; Human; Prevalence; Congenital; Sex; Male; Fistula; Epidemiology; Pregnancy; Survey; Anus; Atresia; Digestive diseases; Intestinal disease; Female; Frequency; Death; Anomaly; Muscle; Birth weight; Ratio; Ectopia; Comparative study
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/ajmg.1532

The prevalence of anal anomalies among 4,618,840 births recorded in 33 EUROCAT registries between 1980 and 1994 was 4.05 per 10,000 births. Of the 1,846 recorded cases, 672 (36.4%) were isolated anal anomalies while 1,174 (63.6%) occurred together with other anomalies. Only isolated anal anomalies were analyzed in this study: 75.5% were atresias, 10.1% of which were above and 89.9% were below the level of the levator ani muscle. Fistula occurred in 53% of supralevator and 37% of infralevator atresia. Other anal anomalies were ectopic anus (3.4%), congenital anal fistula (14.7%), and persistent cloaca (0.9%). There was a predominance of males in anal atresia without fistula (male to female (M:F) ratio was 6.7 for supralevator and 2.3 for infralevator atresia), but no significant sex difference in atresias with fistula. There was a predominance of females in ectopic anus and congenital anal fistula (M:F = 0.11 and 0.36 respectively). High frequencies of fetal deaths were recorded in supralevator atresia without fistula (8.3%) and in persistent cloaca (11.1%). Mean gestational length and mean birth weights were reduced for persistent cloaca but were within normal limits for other isolated anal anomalies. Odds ratios (ORs) for mothers above 35 years were increased for supralevator atresia without fistula, supralevator atresia with fistula, and congenital anal fistula. ORs for mothers below 30 years were slightly increased for supralevator atresia without fistula and decreased for persistent cloaca. There were marked differences in prevalence and distribution of anal anomalies among the EUROCAT registries. The results indicated that there are epidemiological differences among the various types of anal anomalies which might reflect different embryological origins. © 2001 Wiley‐Liss, Inc.