Finnish study reveals mortality risks in rare birth defect affecting thousands
A new 13-year analysis of anorectal malformations—a common congenital condition affecting about 8 per 10,000 births—found that 6% of infants died, with heart defects significantly raising risk. The findings could help pediatric hospitals prioritize screening and treatment protocols for this understudied birth defect.
Originaltitel: Prevalence, Associated Anomalies, and Mortality in Anorectal Malformations: Retrospective study (2004-2017).
**Stabil förekomst av rektaldefekter — men dödligheten kräver fokus på multiorganpåverkan** Rektalanomali (ARM) är den vanligaste medfödda mag-tarmdefekten. En finsk registerstudie på 646 fall (2004–2017) visar att förekomsten har stabiliserats på 8,0 per 10 000 födslar. Av barnen föddes 545 levande, medan 93 graviditeter avslutades och 8 var dödfödda. Neonatal dödlighet uppgick till 4,6 procent och spädbarnsdödlighet till 6,0 procent. Båda var starkt associerade med medfödda hjärtfel och VACTERL-syndrom — ett komplext syndrom med påverkan på ryggrad, hjärta, njurar och lemmar. Isolerade rektalanomali hade 100 procent överlevnad. Turku universitetssjukhus och dess samarbetspartner kartlagde också att hjärt-, urin- och skelettdefekter var vanligaste komorbiditeter. För inköpschefer inom regionvård är resultatet relevant för planering av kirurgisk kapacitet och överlevnadsprogram för barn med multipla defekter.
Introduction Anorectal malformations (ARMs) represent the most common form of congenital gastrointestinal malformations. ARMs range from mild anal stenosis to complex abnormalities involving the rectum, genitals, and urinary tract. The aim of this study was to investigate prevalence, mortality and associated anomalies of ARMs in the Finnish population. Materials and Methods The data were obtained on all live births, stillbirths and terminations of pregnancy due to fetal anomalies from registers maintained by the Finnish Institute for Health and Welfare, and Statistics Finland. All individuals diagnosed with ARM between January 1, 2004, and December 31, 2017, were included in the study. Results This population-based study identified 646 ARM cases, including 545 (84.4%) live births, 8 (1.2%) stillbirths, and 93 (14.4%) terminations of pregnancy. The total prevalence for ARM in Finland was 8.00 per 10,000 births, with no significant variation in the prevalence rates between 2004 and 2017. Neonatal mortality was 4.6% (n = 25), and infant mortality was 6.0% (n = 33). Neonatal and infant mortality were both associated with congenital heart defects (p = 0.02 and p<0.001) and VACTERL (p = 0.0002 and p<0.001, respectively). Postnatal survival rate for isolated ARM in the study population was 100%. Most common associated anomalies were urinary tract, heart, and limb malformations. Conclusion The overall prevalence of ARMs has remained stable in the Finnish population. Mortality during the neonatal and infant periods remains a significant concern, particularly among patients with severe associated anomalies, multiple congenital abnormalities, and syndromic disorders.