Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival

Area of Science:

• Pediatric Surgery
• Medical Genetics
• Public Health

Background:

• Congenital intestinal atresia (CIA) encompasses jejunoileal atresia (JIA) and colonic atresia (CA).
• Understanding prevalence, associated anomalies, and survival is crucial for clinical management.
• Identifying maternal risk factors can inform preventative strategies.

Purpose of the Study:

• To determine the prevalence and associated anomalies of CIA in Finland.
• To assess survival rates for JIA and CA.
• To investigate maternal risk factors for JIA.

Main Methods:

• Retrospective analysis of CIA cases (1987-2019) from the Finnish Register of Congenital Malformations.
• Inclusion of clinical data from national health registers.
• Case-control study for maternal risk factors in JIA (2004-2017), comparing 101 cases with 5 matched controls each.

Main Results:

• 175 JIA and 48 CA cases identified; approximately 50% were isolated anomalies.
• Common associated defects included gastrointestinal (26% JIA, 35% CA), cardiac (13% JIA), and urinary tract (19% CA).
• Survival rates were 88% for JIA and 94% for CA; only two deaths were directly attributed to intestinal atresia. Maternal insulin use (aOR 8.4) and propionic acid derivatives (aOR 4.6) increased JIA risk.

Conclusions:

• Intestinal atresia has a low mortality rate, even with frequent co-occurring anomalies.
• Maternal use of insulin and propionic acid derivatives may be significant risk factors for developing jejunoileal atresia.
• Further research into these maternal exposures is warranted.