Abstract

Birth defects are one of the most important medical and social problems. According to the majority of authors congenital anomalies affect 2–4% of newborn babies. They are a common cause of fetal and perinatal mortality. The majority of children with birth defects may be mentally and physically disabled and require specialistic support, long-term expensive therapy and rehabilitation. Each diagnosis of a severe birth defect is a tragedy for parents. Children with severe birth defects change functioning of the entire family and affect the quality of family life. In 1997 the Polish Registry of Congenital Malformations (PRCM) was established. The objectives of PRCM include provision of essential epidemiologic information on congenital malformations in Poland, identification of risk factors, evaluation of the effectiveness of primary prophylactic actions, identification of families at genetic risk and propagation of genetic counseling among physicians and the general population. Since 2001, the PRCM has been a member of the EUROCAT (A European network of population-based registries for the epidemiologic surveillance of congenital anomalies). In 2005 the PRCM covered 84% of the Polish territory.

Aim of the study was analysis of the total incidence and prevalence of selected types of birth defects in the Pomerania province during three years, between 2003–2005.

Material and methods: We retrospectively analyzed the data from PRCM registration forms of children born in years 2003–2005 in the Pomerania province. Also reviews of birth charts in randomly selected 8 hospitals were performed to make sure that all malformations recognized at birth were analyzed. The PRCM collects information on structural defects recognized until the end of the second year of life. Minor abnormalities without serious medical or cosmetic consequences were excluded from registration. The rate of defects was calculated including live born infants, stillborn fetuses and prenatal diagnosed affected fetuses. Malformations were classified according to the ICD-10. The Mann-Whitney U test was performed, with the statistical significance level as P < 0.05. All chromosomal anomalies were identified by cytogenetic and DNA tests.

Results: Congenital malformations were diagnosed in 1077 among 68931 children born in years 2003–2005. The incidence rate of birth defects was 156.2 per 10000 births. The most common anomalies were congenital heart disease (31.0%; rate 61.2 per 10000 newborns), malformations of the musculoskeletal system (19.3%; 38.1/10000), neural tube defects (NTD) (9.1%; 17.8/10000) and malformations of the urinary system (8.3%; 18.2/10000). Down syndrome was diagnosed in 74% of all chromosomal anomaly cases. Malformations of the respiratory system and skin defects were rare. This study shows a significant reduction in the rate of NTD from 27.8/10000 births in 1998 to 16.3/10000 in 2005 after introduction of their primary prevention with the folic acid. The analysis showed that over 50% of all malformations recognized during the neonatal period were not reported to the Registry.

Conclusions: The incidence of congenital malformations in the Pomerania province was comparable to the rate reported in other Polish regions. Probably primary prophylaxis with folic acid was associated with a significant reduction in the rate of neural tube defects in the Pomerania province during the last three years. However the notification of all anomalies recognized at birth by neonatal wards staff was insufficient.

Adres: dr hab. med. Piotr Czauderna
Klinika Chirurgii i Urologii Dzieci i Młodzieży AMG
ul. Nowe Ogrody 1-6, 80-803 Gdańsk
e-mail: pczaud@gumed.edu.pl