Abstract
Retrospective epidemiological analysis of birth defects data from particular centers of clinical genetics and prenatal diagnostics (prenatal data) and from the Czech National Birth Defects Register database (birth data). In the period under study the number of prenatally diagnosed birth defects has increased.
In 1994, the incidence of prenatally diagnosed (and selectively terminated) birth defects was 27.40 per 10 000 live births while in 2008 it was 73.26 per 10 000. Chromosomal aberration (DS especially) are among the most frequent prenatally diagnosed birth defects, further being heart defects, neural tube defects (anencephaly, encephalocele, spina bifida), hydrocephalus, congenital skeletal system defects, abdominal wall defects (omphalocele, gastroschisis) and renal defects.
In some defects, prenatal diagnostics has also significantly influenced their incidence in births (anencephaly, gastroschisis and DS e.g.).