Epidemiology of neural tube defects in Finland: a nationwide register study 1987-2018.

BACKGROUND: Our aim was to evaluate the prevalence, mortality, regional and sex distribution of neural tube defects (NTDs) in Finland. METHODS: Data for this population-based study were collected from 1987 to 2018 from the national health and social welfare registers. RESULTS: There were in total 1634 cases of NTDs, of which 511 were live births, 72 pregnancies ended in stillbirth and 1051 were terminations of pregnancy due to fetal anomaly (TOPFA). The total prevalence of NTDs was 8.6 per 10 000 births and it increased slightly annually (OR 1.008; 95% CI: 1.002, 1.013) during the 32-year study period. The birth prevalence of NTDs decreased (OR 0.979; 95% CI: 0.970, 0.987), but the prevalence of TOPFA increased annually (OR 1.024; 95% CI 1.017, 1.031). The perinatal mortality of NTD children was 260.7 per 1000 births and the infant mortality was 184.0 per 1000 live births, whereas these measures in the general population were 4.6 per 1000 births and 3.3 per 1000 live births, respectively. There was no difference in the NTD prevalence between males and females (P-value 0.77). The total prevalence of NTDs varied from 7.1 to 9.4 per 10 000 births in Finland by region. CONCLUSIONS: Although the majority of NTDs are preventable with an adequate folic acid supplementation, the total prevalence increased in Finland during the study period when folic acid supplementation was mainly recommended to high-risk families and to women with folic acid deficiency. NTDs remain an important cause of infant morbidity and mortality in Finland.

Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.

BACKGROUND: Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder. MATERIALS AND METHODS: We collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found. RESULTS: A total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively. CONCLUSIONS: Infant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.

Treatment of Unstable Pediatric Tibia Shaft Fractures in Finland.

BACKGROUND: Surgical treatment of pediatric tibia shaft fractures has gained popularity despite closed reduction and cast-immobilization providing good long-term results. There is no consensus about optimal methods and satisfactory quality of treatment. MATERIALS AND METHODS: During 2010 to 2014, 226 pediatric patients were treated under anesthesia for tibia shaft fractures in Finland's five university hospitals. A total of 164 (73%) patients had closed fractures of the tibia or both tibia and fibula without other injuries (62 tibia only and 102 both tibia and fibula). Forty-one (18%) had open tibia fractures, 16 had additional fractures, and 5 (2%) had sustained a polytrauma (Injury Severity Score [ISS] > 15). Treatment methods, follow-up protocols, complications, and the outcome were analyzed. RESULTS: A total of 143 (63%) of the tibia fractures were treated surgically: 87 (53%) closed fractures, 36 (88%) open fractures, 15 (94%) with additional fractures, and 5 (2%) polytrauma patients. The rate of surgical treatment of closed tibia fractures was significantly higher in patients older than 10 and in patients with a concomitant fibula fracture. Fasciotomy was done in 33 (15%) patients. Reoperations were performed in 13 (6%) patients because of unsatisfactory treatment (inappropriate primary reduction 6, malunion 6, and non-union 1). There were no differences between the five university hospitals in treatment or follow-up protocols. CONCLUSION: Internal fixation is used for the majority of tibia shaft fractures treated under anesthesia in university hospitals in Finland. Serious fracture or treatment related complications are very rare, but the percentage (6%) of re-operations because of unsatisfactory standard of treatment should be lower and could probably be improved by concentrating internal fixation to fewer hands. A prospective randomized controlled trial comparing non-operative treatment to intramedullary nailing in pediatric tibia fractures should be performed.