[Ultrasound prenatal diagnostics of birth defects in the Czech Republic in 1994-2007]

An analysis of prenatal diagnostics efficiency of selected birth defects in the Czech Republic in 2007. Update of 1994-2007 data according to particular defects.

Retrospective epidemiological analysis of pre- and postnatal diagnostics of selected birth defects and prenatal diagnostics efficiency.

Data on pre- and postnatally diagnosed birth defects in the Czech Republic during 1994-2007 were used. Data on prenatally diagnosed birth defects (and for this terminated pregnancies) were collected from particular departments of prenatal diagnostics, medical genetics and ultrasound diagnostics in the Czech Republic, data on birth defects in births from the National Birth Defects Register (Institute for Health Information and Statistics). Total numbers and mean incidences of selected types of defects (anencephaly, spina bifida, encephalocele, congenital hydrocefalus, omfalocele, gastroschisis, diafragmatic hernia, cystic kidney, renal agenesis/hypoplasia, transposition of great vessels, tetralogy of Fallot, hypoplastic left heart syndrome and coarctation of aorta) during the period under the study were analyzed. Prenatal diagnostics efficiency of these defects was also assessed.

Following total numbers of particular birth defects were registered during the 1994-2007 period: anencephaly 380, spina bifida 559, encephalocele 1134, congenital hydrocefalus 584, omfalocele 351, gastroschisis 389, diafragmatic hernia 325, cystic kidney 698, renal agenesis/hypoplasia 679, transposition of great vessels 797, tetralogy of Fallot 723, hypoplastic left heart syndrome 533 and coarctation of aorta 973. Mean incidences (per 10,000 live births) and prenatal diagnostics rate (%, in brackets) were as follows: anencephaly 2.81 (95.65), spina bifida 4.13 (61.12), encephalocele 0.99 (77.04), congenital hydrocefalus 4.32 (49.61), omfalocele 2.59 (54.97), gastroschisis 2.88 (77.30), diafragmatic hernia 2.40 (22.02), cystic kidney 5.16 (24.80), renal agenesis/hypoplasia 5.02 (25.97), transposition of great vessels 6.93 (7.85), tetralogy of Fallot 6.28 (5.87), hypoplastic left heart syndrome 4.63 (39.86) and coarctation of aorta 8.46 (3.80).

The study gives updated results of ultrasound prenatal diagnostics of selected types of birth defects in the Czech Republic during the 1994-2007 period. Ultrasound prenatal diagnostics contributes to a decrease of some birth defect in a newborn population as well as to changes of their spectrum in births, especially in lethal and most severe ones. Ultrasound prenatal diagnostics experienced both qualitative and quantitative progress in last years in the Czech Republic, resulting in in higher efficiency of prenatal detection of major birth defects in population as well as in separating of associated defects and syndromes, particulary those with a general good prognosis.