[Survival of children born with selected types of birth defects in Czech Republic].

OBJECTIVE: A retrospective study of data with an analysis of the prenatal and postnatal incidence of selected types of birth defects in the Czech Republic during the period from 1994 to 2003. The objective was also to analyse the percentage of deceased children born with selected types of congenital defects from the total number of deceased children.

DATA SOURCE AND METHODS: The data on prenatal diagnostics were obtained from particular department of medical genetics in the Czech Republic. The data on the incidences of birth defects in the born children were obtained from the data of the National Health Registers, the administration of which has been entrusted to the Institute of Health Information and Statistics of the Czech Republic (IHIS CR). Specifically, the data from the National Register of Congenital Defects and the National Register of Neonates were used. The analysis of the frequencies of prenatally and postnatally diagnosed cases of twelve selected types of birth defects was carried out for the Czech Republic for the period from 1994 to 2003. For the cases of postnatally diagnosed defects, an analysis of survival and mortality of the affected individuals during the 1st year of life was carried out for selected types of birth defects.

RESULTS: In the period 1994-2003, a total of 932,153 children were born in the Czech Republic. Including the cases of successful prenatal diagnostics, we analysed 268 cases of anencephalia, 384 cases of spina bifida and 80 cases of encephalocele, 425 cases of congenital hydrocephalus, 261 cases of omphalocele and 258 cases of gastroschisis, 225 cases of congenital defects of oesophagus and 279 anorectal malformations; 232 cases of diaphragmatic hernia, 411 cases of agenesis/hypoplasia of kidneys and 438 cystic kidneys; and 1,412 cases of Down's Syndrome. The success rate of secondary prevention was high for the defects of neural tube (55-96%), for the defects of abdominal wall (55-78%) and for the Down's Syndrome (59%). As concerns the defects treatable by surgery, the survival rate in the first year of life of the born children was lowest in the case of congenital hydrocephalus (63%) and in the case of neural tube defects (75-84%). However, in the case of GIT congenital defects (the defects of abdominal wall, diaphragmatic hernia, congenital defects of oesophagus and anorectal malformations), 82 to 91% of the born children survived.

CONCLUSION: Immaturity and concurrent incidence of additional birth defects prolong the period of hospitalisation, UPV and total parenteral nutrition in the case of the affected neonates. This deteriorates the prognosis of the children born with birth defects. Possible reduction of the incidence of these cases could be achieved through improvement in prenatal diagnostics, specifically through more timely identification of mainly the serious types of defects with the presence of associated congenital defects. Another possibility to improve the survival rate of children is the development of surgical procedures and specialised neonatal and infant intensive care.