Prenatal Diagnostics of Selected Types of Birth Defects in the Czech Republic in 1994 – 2006 Period

Czech version

Authors: V. Gregor ^1,2; A. Šípek ^1,3; J. Horáček ¹; A. Šípek jr. ⁴; P. Langhammer ⁵
Authors‘ workplace: Oddělení lékařské genetiky, Fakultní Thomayerova nemocnice, Praha, ředitel MUDr. K. Filip, CSc., MBA ¹; Institut postgraduálního vzdělávání ve zdravotnictví, Praha, Katedra lékařské genetiky, ředitel MUDr. Z. Hadra ²; Ústav pro péči o matku a dítě, Praha-Podolí, ředitel doc. MUDr. J. Feyereisl, CSc. ³; 1. lékařská fakulta Univerzity Karlovy, děkan prof. MUDr. T. Zima, DrSc., MBA ⁴; Ústav zdravotnických informací a statistiky České republiky, ředitelka Mgr. V. Mazánková ⁵
Published in: Ceska Gynekol 2008; 73(3): 169-178

Overview

Objective:
To analyze an efficiency of prenatal diagnostics of selected types of birth defects in the Czech Republic in 1994 – 2006 period.

Design:
A retrospective epidemiological study and a prenatal diagnostics efficiency analysis.

Setting:
Department of Medical Genetics, Thomayer’s University Hospital, Prague.

Chair of Medical Genetics, Postgraduate Medical Institute, Prague, Czech Republic.

Methods:
Data were collected from National Birth Defects Register (Institute of Health Information and Statistics). Incidences of selected types of birth defects were analyzed.

Results:
In 1994 – 2006, totally 1 132 567 children were born in the Czech Republic, out of which more than 42 000 with a birth defect. A mean incidence was 339 per 10 000 live births with a maximum of 414.58 per 10 000 in 2003. In the same time period, 6113 cases of birth defect prenatal diagnostics (49.3 per 10 000 live biths) were reported.

Conclusion:
In a comparison of 1980 – 1993 and 1994 – 2006 periods, a significant increase of prenatal diagnostics efficiency was recorded.

Key words:
birth defect, incidence, prenatal diagnostics, anencephaly, spina bifida, encephalocele, neural tube defects, congenital hydrocephalus, omfalocele, gastroschisis, abdominal wall defects, oesophageal defects, anorectal malformations, diaphragmatic hernia, renal agenesis/hypoplasia, cystic kidney, Down syndrome, Czech Republic.

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