Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS) and the spectrum of these causes. Overall 167 unrelated patients presenting NMD falling into categories of muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, and other myopathies were tested by targeted NGS of 42 known NMD-related genes. Pathogenic or probably pathogenic sequence changes were identified in 79 patients (47.3%). In total, 37 novel and 51 known disease-causing variants were detected in 23 genes. In addition, variants of uncertain significance were suspected in 7 cases (4.2%), and in 81 cases (48.5%) sequence changes associated with NMD were not found. Our results strongly indicate that for molecular diagnostics of heterogeneous disorders such as NMDs, targeted panel testing has a high-clinical yield and should therefore be the preferred first-tier approach. Further, we show that in the genetic diagnostic practice of NMDs, it is necessary to take into account different types of inheritance including the occurrence of an autosomal recessive disorder in two generations of one family.

• Klíčová slova
• DNA diagnostics, LGMD, neuromuscular disorders, targeted next-generation sequencing,
• MeSH
• dospělí MeSH
• genetické testování * MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• nemoci svalů epidemiologie   genetika   patofyziologie   MeSH
• sekvenční analýza DNA * MeSH
• svalové dystrofie epidemiologie   genetika   patofyziologie   MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

Pericentric inversion of human chromosome 9 [inv(9)] is a relatively common cytogenetic finding. It is largely considered a clinically insignificant variant of the normal human karyotype. However, numerous studies have suggested its possible association with certain pathologies, e.g., infertility, habitual abortions or schizophrenia. We analysed the incidence of inv(9) and the spectrum of clinical indications for karyotyping among inv(9) carriers in three medical genetics departments in Prague. In their cytogenetic databases, among 26,597 total records we identified 421 (1.6 %) cases of inv(9) without any concurrent cytogenetic pathology. This study represents the world's largest epidemiological study on inv(9) to date. The incidence of inv(9) calculated in this way from diagnostic laboratory data does not differ from the incidence of inv(9) in three specific populationbased samples of healthy individuals (N = 4,166) karyotyped for preventive (amniocentesis for advanced maternal age, gamete donation) or legal reasons (children awaiting adoption). The most frequent clinical indication in inv(9) carriers was "idiopathic reproductive failure" - 37.1 %. The spectra and percentages of indications in individuals with inv(9) were further statistically evaluated for one of the departments (N = 170) by comparing individuals with inv(9) to a control group of 661 individuals with normal karyotypes without this inversion. The proportion of clinical referrals for "idiopathic reproductive failure" among inv(9) cases remains higher than in controls, but the difference is not statistically significant for both genders combined. Analysis in separated genders showed that the incidence of "idiopathic reproductive failure" could differ among inv(9) female and male carriers.

• MeSH
• chromozomální inverze genetika   MeSH
• cytogenetika MeSH
• dítě MeSH
• karyotypizace MeSH
• lidé MeSH
• lidské chromozomy, pár 9 genetika   MeSH
• mladiství MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVE: Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. DESIGN: Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. MATERIAL AND METHODS: Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. RESULTS: In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of prenatally diagnosed encephalocoele increased and that of postnatally diagnosed cases varied between years, with no clear trend. The prevalence of omphalocoele varied for both prenatally and postnatally diagnosed cases; nevertheless, the effectiveness of prenatal diagnosis of this defect increases. The prevalence of gastroschisis remained unchanged, but the number of live births with this diagnosis showed a non-significant upward trend. If the trend reflects the real situation, it could be a result of a changed approach to prenatal diagnosis due to advances in corrective surgery of this defect. The prevalence of live births with congenital hydrocephalus showed a downward trend in the second half of the period 1994-2009 thanks to the improved diagnosis. The prevalence rates of live births with congenital esophageal and anorectal anomalies were slightly increasing. The prevalence of congenital diaphragmatic hernia varied between years but the overall prevalence appeared to be slightly increasing. CONCLUSION: The prevalence of some congenital anomalies (spina bifida, omphalocoele, and congenital hydrocephalus) showed a downward trend over the study period 1994-2009, mainly as a result of effective prenatal diagnosis. The prevalence of other congenital anomalies such as anencephaly or encephalocoele remained unchanged in live births. As for anencephaly, postnatally diagnosed cases were rare as the prenatal diagnosis was close to 100 %. The trend in encephalocoele is explained by the low incidence of this diagnosis in the population. The third group of postnatally diagnosed congenital anomalies such as gastroschisis or esophageal and anorectal anomalies were on the rise. As for gastroschisis, the reason was the changed approach to prenatal diagnosis due to good prognosis of this operable defect. The prevalence of congenital esophageal and anorectal anomalies varied between years, with a slowly increasing trend, similarly to diaphragmatic hernia.

• MeSH
• gastrointestinální nemoci vrozené   epidemiologie   MeSH
• incidence MeSH
• lidé MeSH
• nemoci centrálního nervového systému vrozené   epidemiologie   MeSH
• prenatální diagnóza MeSH
• prevalence MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

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.

• MeSH
• incidence MeSH
• lidé MeSH
• novorozenec MeSH
• vrozené vady epidemiologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Evropa epidemiologie   MeSH
• Izrael epidemiologie   MeSH
• Kanada epidemiologie   MeSH
• Spojené státy americké epidemiologie   MeSH

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.).

• MeSH
• lidé MeSH
• prenatální diagnóza * metody   MeSH
• těhotenství MeSH
• vrozené vady diagnóza   MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

AIM OF THE STUDY: To assess the PGD results in couples with robertsonian and reciprocal translocations. DESIGN: Retrospective study. SETTING: Sanatorium Pronatal, Prague, accredited IVF unit. METHODS: 94 infertile couples with translocation (44 couples with robertsonian and 50 couples with reciprocal translocations) were included in the study. The mean woman's age was not different: 33 +/- 4,4 in robertsonian vers. 33 +/- 3.9 in reciprocal translocations. The performance of FISH probes in specific cases was tested on patient's lymfocytes before the treatment was started. After ovarian stimulation (recombinant FSH or hMG + GnRH agonist, "long" protocol) and transvaginal oocyte pick-up, embryo biopsy of a single cell was performed 72 hours after fertilization. After blastomere fixation, translocated chromosomes + chromosomes 13, 18, 21, X and Y were tested using FISH. The maximum of two embryos euploid for detected chromosomes were transferred, supernumerary euploid embryos were frozen. RESULTS: From the total number of 629 embryos, 126 embryos (21.9%) were detected as normal or with balanced translocation--25.2% (68/270) in couples with robertsonian and 16.4% (59/359) with reciprocal translocation. Embryotransfer was performed in 30 cycles (68.2%) in robertsonian and 27 (54%) in reciprocal translocations. 24 pregnancies were achieved--15 (39% per cycle and 50% per ET) for robertsonian and 9 (19% per cycle and 33% per ET) for reciprocal translocation--this difference was statistically significant (p = 0.033). Only one pregnancy in each group ended as abortion. SUMMARY: IVF is a valuable option for couples with infertility problems and translocation. This technique allows in short-term a conception and delivery of a healthy baby with general better prognosis for couples with robertsonian translocation.

• MeSH
• fertilizace in vitro MeSH
• heterozygot * MeSH
• infertilita genetika   terapie   MeSH
• lidé MeSH
• novorozenec MeSH
• preimplantační diagnóza * MeSH
• těhotenství MeSH
• translokace genetická * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

AIM OF STUDY: An analysis of incidence of congenital heart defects (CHD) in the Czech Republic in the 1994 - 2008 period. An assessment of absolute numbers, frequencies and incidences for particular selected diagnoses according to 10th decennial revision of International Classification of Diseases (ICD-10). An analysis of pre- and postnatal incidences of selected diagnoses and of a secondary prevention measures efficiency in the Czech Republic. TYPE OF STUDY: A retrospective epidemiological analysis of congenital anomalies from the database of the National Register of Birth Defects (NRBD) of the Czech Republic. MATERIAL AND METHODS: Data from the NRBD from the 1994 - 2008 period were used. In our study, CHD incidences (ICD-10 Q20-Q28 Congenital malformations of the circulatory system group) in the Czech Republic were analyzed. First, CHD incidences in births were assessed - absolute numbers, frequencies and incidences for particular selected diagnoses. Second, absolute numbers, frequencies and incidences of particular selected diagnoses in prenatally diagnosed fetuses and a secondary prevention measures efficiency in selected CHD were evaluated. In a third part, survival of babies with CHD during the first year of their life was analyzed. RESULTS: In the period under the study, there were a total of 1 472 610 life births in the Czech Republic. Congenital malformations of the circulatory system (Q20-Q28) present more than 40% of all registered congenital anomalies and are themselves the most frequent birth defect group in births in the Czech Republic. As a whole, 29 133 CHD were diagnosed (197.83 per 10 000 live births) in 18 811 children (127.53 per 10 000 live births) in this period, which presents more than 36% of children born with a congenital anomaly in the Czech Republic during 1994 - 2008. CHD most frequently diagnosed in births were congenital malformations of cardiac septa (total 16 428, 145.05 per 10 000 live births, more than 55% of all CHD) and congenital malformations of great arteries (total 5389, 47.58 per 10 000 live births, more than 18% of all CHD). Further, prenatally diagnosed CHD were analyzed. Incidences for particular diagnoses as well as percentage of pregnancy termination were assessed. A rate of prenatally diagnosed was 11.35% in discordant ventriculoarterial connection (Q20.3), 8.35% in discordant atrioventricular connection (Q20.5), 49.41% in hypoplastic left heart syndrome (Q23.4), 7.64% in coarctation of aorta (Q25.1) and 9.71% in tetralogy of Fallot (Q21.3). These anomalies were parts of chromosomal syndromes in 42.58% and non-chromosomal syndromes in 9.33%. There were also associated malformations (from other systems than circulatory one). The most frequent were congenital malformations of the nervous system (Q00-Q07) - 14.59%, congenital malformations and deformations of the musculoskeletal system (Q65-Q79) - 12.44%, cleft lip and cleft palate (Q35-Q37) - 7.42% and congenital malformations of the urinary system (Q60-Q64) - 6.70%. In children born with a CHD, 84.53% were associated with other anomaly, out of which more than 70% were CHD only. Only about 14% were associated with anomalies from other (non-circulatory system) groups. Perinatal mortality was highest in hypoplastic left heart syndrome (Q23.4) - 327.103 per thousand and in tetralogy of Fallot (Q21.3) - 6.565 per thousand. CONCLUSIONS: The study presents current results of analysis of CHD incidences in the Czech Republic in the 1994 - 2008 period. Children born with a CHD make more than 36% out of all children born with a congenital anomaly. CHD themselves represents an important part (more than 40%) of all diagnosed congenital anomalies in the Czech Republic. Over the period of the study there was a slight increase of diagnosed CHD during 1994 - 1999 followed by a slight decrease from 2000 with an exception of 2007 year. The most frequent of diagnosed CHD were ventricular septal defect (Q21.0) and atrial septal defect (Q21.1). Both defects incidences changes influence not only a total CHD but also a total congenital anomalies incidence. An influence of prenatal diagnostics among the five selected CHD was most important in hypoplastic left heart syndrome (Q23.4), less so in others. In prenatal diagnostics group, it is necessary to distinguish between those anomalies, which led to pregnancy termination (parts of both chromosomal and non-chromosomal syndromes and/or association with other severe anomalies) and those in which pregnancy leads to a delivery (late diagnostics, operabile defects, parental decision). CHD can be a part of chromosomal syndromes. In our study, in prenatally diagnosed CHD it was more than 42%. A presence of other associated diagnoses of congenital anomalies in births will significantly influence infant mortality and morbidity.

• MeSH
• incidence MeSH
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• vrozené srdeční vady epidemiologie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

AIM OF STUDY: An analysis of occurrence of birth defects in the Czech Republic regions in 1994 - 2007. An assessment of total numbers and relative incidences of birth defects in births according to Tenth Revision of International Classification of Diseases (ICD-10). TYP OF STUDY: Retrospective epidemiological analysis of birth defects incidences in the Czech Republic and its particular regions 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 1994 - 2007 period were used. In this study, particular diagnoses--as they were registered in the National Register--were analyzed. The diagoses in study were divided into following eleven birth defects groups according to ICD-10 classification: (Q00-Q07) nervous system, (Q10-Q18) eye, ear, face and neck, (Q20-Q28) circulatory system, (Q30-Q34) respiratory system, (Q35-Q37) cleft lip and cleft palate, (Q38-Q45) digestive system, (Q50-Q56) genital organs, (Q60-Q64) urinary system, (Q65-Q79) musculoskeletal system, (Q80-Q89) other defects and (Q90-Q99) chromosomal abnormalities, not elsewhere classified. Prenataly diagnosed cases were not included. Birth defects in births were analyzed both in terms of the whole Czech Republic and its 14 particular administrative regions: Prague (the Capital City), Stredoceský, Jihoceský, Plzenský, Karlovarský, Ustecký, Liberecký, Královéhradecký, Pardubický, Vysocina, Jihomoravský, Olomoucký, Zlínský and Moravskoslezský. RESULTS: During 1994 - 2007 period, totally 1,353,040 children were born on the area of the Czech Republic, out of which 44,343 with a birth defect (totally 65,186 birth defects diagnoses). The diagoses in study were divided into eleven groups according to ICD-10 classification. Further, particular diagnoses according to ICD-10 and their verbal descriptions are presented in tables. Each group is accompanied by data on its total number and a relative incidence (per 10,000 live births) with a 95% C.I. A relative frequency of the birth defects groups in study (in % from the total number of birth defects) is as follows: (Q00-Q07) nervous system 2.10, (Q10-Q18) eye, ear, face and neck 4.76, (Q20-Q28) circulatory system 39.63, (Q30-Q34) respiratory system 1.03, (Q35-Q37) cleft lip and cleft palate 3.67, (Q38-Q45) digestive system 4.05, (Q50-Q56) genital organs 10.93, (Q60-Q64) urinary system 7.08, (Q65-Q79) musculoskeletal system 18.90, (Q80-Q89) other defects 5.55 and (Q90-Q99) chromosomal abnormalities 2.28. Relative number of birth defects per region (in % from the total number of birth defects) and deviations from a mean incidence of birth defects in the Czech Republic (total Czech Republic expressed as 100%, in brackets) were calculated for each particular region: Prague (the Capital City) 10.75 (97.82), Stredoceský 11.27 (102.25), Jihoceský 6.13 (99.53), Plzenský 5.27 (105.03), Karlovarský 3.09 (134.15), Ustecký 8.67 (118.03), Liberecký 4.38 (82.93), Královéhradecký 5.41 (112.14), Pardubický 5.04 (110.32), Vysocina 5.11 (99.43), Jihomoravský 10.76 (79.11), Olomoucký 6.16 (79.47), Zlínský 5.58 (90.60) and Moravskoslezský 12.39 (105.91). CONCLUSIONS: The study gives updated results of incidences analysis of birth defects in births in the Czech Republic and its 14 administrative regions during the 1994 - 2007 period. Variance in birh defects occurrence was found, reflecting more a distribution of incidences according to smaller administrative units (districts) than to a regional distribution. Less important differences in birth defects groups incidences between particular regions were also found.

• MeSH
• incidence MeSH
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• vrozené vady epidemiologie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

AIM OF STUDY: An analysis of occurrence of birth defects in children from single and twin pregnancies in the Czech Republic in 1994-2007. An assessment of total numbers and relative incidences of birth defects in births according to Tenth Revision of International Classification of Diseases (ICD-10). TYPE OF STUDY: Retrospective epidemiological analysis of birth defects incidences 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 1994-2007 period were used. In this study, particular diagnoses--as they were registered in the National Register--were analyzed. Birth defects were analyzed separetely for children from single and twin pregnancies. The diagoses in study were divided into following eleven birth defects groups according to ICD-10 classification: (Q00-Q07) nervous system, (Q10-Q18) eye, ear, face and neck, (Q20-Q28) circulatory system, (Q30-Q34) respiratory system, (Q35-Q37) cleft lip and cleft palate, (Q38-Q45) digestive system, (Q50-Q56) genital organs, (Q60-Q64) urinary system, (Q65-Q79) musculoskeletal system, (Q80-Q89) other defects and (Q90-Q99) chromosomal abnormalities, not elsewhere classified. Total numbers and mean incidences of birth defects separetely for children from single and twin pregnancies were assessed for all these 11 groups. RESULTS: In the Czech Republic during 1994-2007 period, totally 1,312,930 children were born (live births and stillbirts) from single pregnancies, whereas 42,448 from twin pregnancies. A twin rate (out of a total number of births) increased from 2.33% in 1997 to 4.17% in 2004. An overall incidence of diagnosed birth defects was 436.03 per 10,000 live births in singletons and 598.38 in twins. Birth defects incidence (per 10,000 livebirths)in singletons and twins in each of 11 birth defects groups under the study was during the 1994-2007 period as follows: (Q00-Q07) nervous system 9.45 in sigletons and 17.20 in twins, (Q10-Q18) eye, ear, face and neck 21.69 in singletons, and 18.38 in twins, (Q20-Q28) circulatory system 154.16 in singletons and 272.57 in twins, (Q30-Q34) respiratory system 4.92 in singletons and 5.65 in twins, (Q35-Q37) cleft lip and cleft palate 16.79 in singletons and 20.02 in twins, (Q38-Q45) digestive system 18.97 in singletons and 28.74 in twins, (Q50-Q56) genital organs 52.07 in singletons and 56.30 in twins, (Q60-Q64) urinary system 34.21 in singletons and 56.78 in twins, (Q65-Q79) musculoskeletal system 87.49 in singletons and 90.93 in twins, (Q80-Q89) other defects 26.06 in singletons and 22.14 in twins and (Q90-Q99) chromosomal abnormalities 10.20 in singletons and 9.66 in twins. CONCLUSIONS: The study gives differentiated results of incidences of selected types of birth defects in births according to pregnancy multiplicity. A statistically significant difference (p<0.001) in total birth defects incidence in twins compared to singletons was confirmed. Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, congenital hydrocephalus, some congenital heart defects, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and syndactyly. A statistically significant difference (p<0.01) was found in spina bifida, hypoplastic left heart syndrome, duodenal atresia/stenosis, diaphragmatic hernia and Down syndrome.

• MeSH
• incidence MeSH
• lidé MeSH
• nemoci u dvojčat epidemiologie   MeSH
• novorozenec MeSH
• těhotenství MeSH
• vrozené vady epidemiologie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

In this paper we summarize the development of the official registration program of congenital anomalies in the Czech Republic from its beginnings in 1964 to present state. The historical review shows all running changes in the registration process that always reflected the actual knowledge in the epidemiology of congenital anomalies. The quantitative changes include mainly the change in the numbers of registered diagnoses. The qualitative changes include the increase of the age limit at diagnoses from original 7 days to current 15 years of age and the association of the prenatally diagnosed cases with the core database. During the 45 years of consecutive monitoring of the congenital anomalies in the Czech Republic we have determined the incidences of severe congenital anomalies in the population and we have analyzed the trends in these incidences (using both time and territory criteria). In the conclusion we discuss the role of the registration in the National health information system and the importance for the healthcare quality monitoring.

• MeSH
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• lidé MeSH
• registrace * MeSH
• vrozené vady epidemiologie   dějiny   MeSH
• Check Tag
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH