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Objective: Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy., Design: Retrospective study., Setting: Gennet, Center of Medical Genetics and Reproductive Medicine, Prague., Material and Methods: Total of 913 CVS were performed at Gennet between 2010-2014. All 913 samples were tested by QF-PCR rapid test for aneuploidy of chromosomes 13, 18, 21, X and Y and karyotyping following standard long term culture. Microarray analysis (Illumina HumanCytoSNP12 v2.1) was performed on 179 samples with normal result from both - QF-PCR and karyotyping., Results: At 229 samples the common chromosomal aneuploidy was detected using rapid QF-PCR (25% from 911 successful rapid tests). Conventional karyotyping revealed 239 unbalanced chromosome aberrations (27% from 897 successful cultivations). 227/239 (95%) positive karyotypes confirmed QF-PCR finding of common aneuploidies. 10 unbalanced chromosome aberrations were not covered by rapid QF-PCR test. Microarray analysis of samples with normal result from both- QF-PCR and karyotyping- revealed 13 clinically relevant chromosome aberrations (7.5%)., Conclusion: New policy for chorionic villi testing at Gennet was established. Based on evaluation of the results of karyotyping, array and QF-PCR and analysis of published data we decided to replace karyotyping by microarray analysis in all cases of foetuses with normal results from QF-PCR. More effective detection of pathological and clinically relevant chromosome aberrations in examined foetuses is expected.

Aim of Study: An analysis of prenatal and postnatal incidences of selected birth defects and secondary prevention efficiency in the Czech Republic in 1994 - 2008 period., Type of Study: 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)., Material and Methods: Data from the National Birth Defects Register (Institute for Health Information and Statistics of the Czech Republic) were used along with data from particular centers of clinical genetics and prenatal diagnostics covering the whole area of the Czech and the 1994 - 2008 period. Total prenatal diagnostics efficiency and an efficiency of prenatal diagnostics of 5 selected defects (anencephaly, spina bifida, omphalocele, gastroschisis and Down syndrome) were studied., Results: 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. In prenatally diagnosed but not terminated defects the corresponding numbers were 8.91 in 1994 and 32.87 in 2008. In last years, a quality change in prenatal birth defects screening has taken place in the Czech Republic. A first trimester screening with an increased efficiency not only for Down syndrome (DS) has been used more often implicating a wider application of chorionic villi sampling (CVS). An increased screening efficiency also made possible a relative decrease of invasive prenatal diagnostics procedures necessary to diagnose a single case of Down syndrome. When comparing CVS and amniocentesis from this particular point of view a higher CVS efficiency (about 12 CVS versus some 120 amniocenteses per 1 case of DS). Prenatal diagnostics efficiency has increased in all defects under study over the 1994 - 2008 period, being about 80% in DS almost 10% in anencephaly, 65 - 68% in omphalocele and gastroschisis and 80% in spina bifida in last years., Conclusions: 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.).

Aim of Study: An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period., Type of Study: Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database., Material and Methods: Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail., Results: There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left heart syndrome 0.7 - 2.3 (2.2 - 4.3), Fallot tetralogy 2.6 - 4.0 (3.2 - 4.4), omphalocele 1.0 - 1.7 (1.8 - 3.8), gastroschisis 0.2 - 1.2 (2.4 - 3.4), diaphragmatic hernia 1.3 - 2.9 (1.5 - 3.9), Down syndrome 3.3 - 6.5 (15.8 - 22.2), Edwards syndrome 0.2 - 1.0 (3.5 - 5.8) and Patau syndrome 0.2 - 1.0 (1.2 - 2.6)., Conclusions: There has been no major change in birth defect incidences in live births in the Czech Republic in last years. Number of non-viable defects has decreased in stillbirths and in perinatal mortality in the Czech Republic. An incidence of some defects has decreased mostly due to a nation-wide system of prenatal diagnostics; some incidences remain stable in live-birth population in others incidences have increased. A total incidence has mostly increased (anencephaly being an exception) mostly due to an earlier prenatal diagnostics. In chromosomal syndromes, an increasing maternal age as well as a growing number of mothers of 35 years of age and over has contributed to the increased incidences.

The Aim of the Study: The basic praebioptic methods detecting the precancerous lesions of the uterine cervix are oncologic cytology (PAP smears) and colposcopy. However in the Czech Republic the incidence of the invasive carcinomas during the last 10 years did not considerably decrease. Therefore the goal of our study is to estimate the validity of the prebioptic methods and compare the results of praebioptic methods (procedures) versus biopsy., Type of the Study: Analysis of the results of the oncologic cervical cytology comparing with the results of cervical biopsies performed during the years 2002-2003 were compared to those of the year 2009. THE SUBJECT AND METHODS OF THE STUDY: evaluation of the prebioptic methods (cytology, colposcopy) versus biopsy prior and during the start of the National Screening in the Czech Republic., Setting: 1. Centre for Gynaecological Oncological prevention, 1st Faculty of Medicine, Charles University Prague, Department of Gynaecology and Obstetrics. 2. Institute of Physiology, Department of cybernetics, 1st Faculty of Medicine, Charles University, Prague. 3. Institute of Pathology, University of Ostrava. 4. Institue for Mother and Child Care, Prague., Summary: We screened the documentation related to the treatment of 423 women with cervical lesions, examined at the Oncological prevention centre of the Obstetrical and Gynaecological Department of the 1st Faculty of Medicine Charles University Prague and the General Teaching Hospital in Prague 2. Results of the oncologic cytology, colposcopy and biopsy were compared. The comparison revealed differences related to the time of examinations. During the years 2002 and 2003 the agreement between cytologic diagnosis and biopsies in the group of HSIL was 40 %. In the year 2009 the agreement between HSIL and CIN was 68% the colposcopic diagnosis of precancerous lesions with those of bioptic specimens, during the years 2002 and 2003 was 90% while in the year 2009, during the National Screening, the agreement reached 98%.