Clinical Experience of Two Sutureless Intrascleral Fixation Techniques for Secondary Intraocular Lens Implantation.

INTRODUCTION: The aim of this study was to evaluate the outcome of the modified Carlevale intraocular lens (IOL) fixation technique, using two different vitrectomy ports (23- vs. 27-gauge) as anchor fixation. METHODS: Retrospective, consecutive study of 282 eyes (282 patients) who underwent a secondary IOL implantation using the Carlevale IOL (Soleko IOL Division, Italy) with two anchor haptics for intrascleral implantation with either 23- or 27-gauge (G) port. RESULTS: Transient post-operative ocular hypotonia (intraocular pressure ≤5 mm Hg) was observed less in the 27-G group (13 vs. 4 patients, p = 0.057) three requiring additional tunnel sutures (2 cases for 23-G; 1 case 27-G). Post-operative vitreous haemorrhage was recorded more often in the 23-G group (8 vs. 1 patient, p = 0.034), but all cases in both groups resolved without intervention. Visual acuity did improve post-operatively in the two groups. No post-operative complications such as retinal detachment, endophthalmitis, and IOL-dislocation tilt were observed in the follow-up. CONCLUSION: The 27-G modified technique for sutureless intrascleral implantation is simple and effective and causes less post-operative hypotony.

Evaluation of external stabilization of type II odontoid fractures in geriatric patients-An experimental study on a newly developed cadaveric trauma model.

BACKGROUND: Along with the growing geriatric population, the number of odontoid fractures is steadily increasing. However, the effectiveness of immobilizing geriatric odontoid fractures using a cervical collar has been questioned. The aim of the present study is to analyze the physiological and pathological motion in odontoid fractures and to assess limitation of motion in the cervical spine when applying a cervical collar. METHODS: Motion analysis was performed with wireless motion tracker on unfixed geriatric human cadavers. First, a new geriatric type II odontoid fracture model was developed. In this model, the type II odontoid fracture is operated via a transoral approach. The physiological and pathological flexion and lateral bending of the cervical spine resulting from this procedure was measured. The resulting motion after external stabilization using a cervical collar was analyzed. RESULTS: The new geriatric type II odontoid fracture model was successfully established using seven unfixed human cadavers. The pathological flexion of the cervical spine was significantly increased compared to the physiological flexion (p = 0.027). Furthermore, the flexion was significantly reduced when a cervical collar was applied. In case of flexion the mean remaining motion was significantly reduced (p = 0.0017) from 41° to 14°. For lateral bending the mean remaining motion was significantly reduced (p = 0.0137) from 48° to 18°. CONCLUSIONS: In case of type II odontoid fracture, flexion and lateral bending of the cervical spine are increased due to spinal instability. Thus, if an odontoid fracture is suspected in geriatric patients, the application of a cervical collar should always be considered since external stabilization can significantly reduce flexion and lateral bending.

Analysis of remaining motion using one innovative upper airway opening cervical collar and two traditional cervical collars.

The aim of this study was to compare the remaining motion of an immobilized cervical spine using an innovative cervical collar as well as two traditional cervical collars. The study was performed on eight fresh human cadavers. The cervical spine was immobilized with one innovative (Lubo Airway Collar) and two traditional cervical collars (Stifneck and Perfit ACE). The flexion and lateral bending of the cervical spine were measured using a wireless motion tracker (Xsens). With the Weinman Lubo Airway Collar attached, the mean remaining flexion was 20.0 ± 9.0°. The mean remaining flexion was lowest with the Laerdal Stifneck (13.1 ± 6.6°) or Ambu Perfit ACE (10.8 ± 5.8°) applied. Compared to that of the innovative Weinmann Lubo Airway Collar, the remaining cervical spine flexion was significantly decreased with the Ambu Perfit ACE. There was no significant difference in lateral bending between the three examined collars. The most effective immobilization of the cervical spine was achieved when traditional cervical collars were implemented. However, all tested cervical collars showed remaining motion of the cervical spine. Thus, alternative immobilization techniques should be considered.

[The position of the head during treatment in the emergency room-an explorative analysis of immobilization of the cervical spine]. / Die Lagerung des Kopfes während der Behandlung im Schockraum ­ eine explorative Analyse über die Immobilisation der Halswirbelsäule.

BACKGROUND: Immobilization of the cervical spine is a standard procedure in emergency medicine mostly achieved via a cervical collar. In the emergency room other forms of immobilization are utilized as cervical collars have certain drawbacks. The present study aimed to provide preliminary data on the efficiency of immobilization in the emergency room by analyzing the residual spinal motion of the patient's head on different kinds of head rests. METHODS: In the present study biomechanical motion data of the cervical spine of a test subject were analyzed. The test subject was placed in a supine position on a mobile stretcher (Stryker M1 Roll-In System, Kalamazoo, MI, USA) wearing a cervical collar (Perfit ACE, Ballerup, Denmark). Three different head rests were tested: standard pillow, concave pillow and cavity pillow. The test subject carried out a predetermined motion protocol: right side inclination, left side inclination, flexion and extension. The residual spinal motion was recorded with wireless motion trackers (inertial measurement unit, Xsens Technologies, Enschede, The Netherlands). The first measurement was performed without a cervical collar or positioning on the pillows to measure the physiological baseline motion. Subsequently, three measurements were taken with the cervical collar applied and the pillows in place. From these measurements, a motion score was calculated that can represent the motion of the cervical spine. RESULTS: When the test subject's head was positioned on a standard pillow the physiological motion score was reduced from 69 to 40. When the test subject's head was placed on concave pillow the motion score was further reduced from 69 to 35. When the test subject's head was placed on cavity pillow the motion score was reduced from 69 to 59. The observed differences in the overall motion score of the cervical spine are mainly due to reduced flexion and extension rather than rotation or lateral inclination. CONCLUSION: The motion score of the cervical spine using motion sensors can provide important information for future analyses. The results of the present study suggest that trauma patients can be immobilized in the early trauma phase with a cervical collar and a head rest. The application of a cervical collar and the positioning on the concave pillow may achieve a good immobilization of the cervical spine in trauma patients in the early trauma phase.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

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.

Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females.

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.

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract]. / Prevalence vybraných vrozených vad v Ceské republice - vývojové vady centrálního nervového systému a zazívacího traktu.

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.

[Course of congenital malformation incidences and their changes over time in children born in the Czech Republic]. / Vývoj a zmeny incidencí vrozených vad u narozených detí v Ceské republice.

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.

[Prenatal diagnostics of birth defects in the Czech Republic--a fifteen-year period]. / Prenatální diagnostika vrozených vad v CR - patnáctileté období

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.).

[Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: possibilities and results]. / Moznosti a výsledky preimplantacní genetické diagnostiky (PGD) u páru s chromozomální translokací.

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.

[Incidence of congenital heart defects in the Czech Republic--current data]. / Incidence vrozených srdecních vad v Ceské republice--aktuální data.

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.

[Birth defects in births in the Czech Republic regions in 1994 - 2007]. / Vrozené vady u narozených detí v jednotlivých krajích Ceské republiky v období let 1994 - 2007.

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.

[Tumors in children with birth defects. Current data from the Czech Republic]. / Nádorová onemocnení u detí narozených s vrozenou vadou aktuální data v Ceské republice.

AIM OF STUDY: An analysis of birth defects incidences in a co-incidence with children age tumors in the Czech Republic in 1994 - 2005. Some bio-social factors (maternal age, birth weight, gestational week at birth) and their roles were studied as well. TYPE OF STUDY: Retrospective demografic-epidemiological analysis of birth defects and children age tumors incidences in children born in the Czech Republic during 1994 - 2005. MATERIAL AND METHODS: Data from the National Birth Defects Register and National Oncological Register (both run in the Institute for Health Information and Statistics) in the Czech Republic were used along with some additional data from the Register of newborns and Register of mothers at childbirth. Out of these data, a group of children with both birth defect and tumor was analyzed according to particular diagnoses and to some selected bio-social factors. Out of the total number 1707 children with tumor (934 (54.7%) boys and 773 (45.3%) girls) were 1572 children without birth defect and 135 with both tumor and birth defect. Total number of children with birth defect were 39 197 (39 059 live births and 138 stillbirths), 22 741 (58.1%) boys and 16 435 (41.9%) girls (in 21 cases the sex was not specified). In these children totally 53 539 birth defect diagnoses were registered (30 739 in boys, 22 781 in girls and 19 in children with unspecified sex). RESULTS: In 1572 children without birth defect and with tumor, a mean age at time of tumor diagnosis was 3.6 years, in 135 children with both tumor and birth defect was 2.2 years, which is significantly lower (p < 0.001, Mann-Whitney U test). No statistically significant difference was found in birthweight and birthlenght and gestational week and maternal age at time of delivery. An increased frequency of tumors in the group of children with birth defect was found in groups mesothelial tumors (C45 - C49), tumors of urinary tract (C64 - C68) and tumors of head and neck (C00 - C14, C30 - C31). On the other hand, a decreased tumor frequency in the group of children with birth defect was found in groups of lymfoid and haematopoietic tumors ((C81 - C96) and tumors of eye and brain (C69 - C72). As a risk factor of tumorigenesis in in children with birth defect was a birth defect from groups of defects of cardiovascular system, uropoietic system, chromosal aberrations and other unspecified defects. In children with both birth defect and tumor a decreased survival rate (p = 0.0437, Log-rank test) was found. A decreased survival rate was also confirmed after tumor diagnosis, although this decrease was not statistically significant (p = 0.2021, Log-rank test). There is also a highly statistically significant difference (p < 0.001, Log-rank test) in survival between groups with and without a birth defect prior to tumor diagnosis. CONCLUSIONS: A higher risk of tumorigenesis in children with birth defect (compared to children without birth defect) was confirmed. There was also a lower survival in a group of children with tumor and birth defect compared to those with tumor and without birth defects. A higher risk of tumorigenesis in some types of birt defects was also found.

[Birth defects in the Czech Republic in 1994--2007]. / Vrozené vady v Ceské republice v období 1994-2007.

AIM OF STUDY: An analysis of occurrence of birth defects 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. The diagnoses 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 are not included. 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. 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. CONCLUSIONS: The study gives updated results of incidences analysis of postnatally diagnosed birth defects (available on the date of August 31, 2008) in the Czech Republic in the 1994-2007 period. Data on birth defects were collected in the National Birth Defects Register (Institute for Health Information and Statistics). Birth defects registration is a compulsory process and is a part of the National Health Information System. The diagnoses in study were divided into eleven groups according to ICD-10 classification. Total numbers, relative incidences (per 10 000 live births, with a 95% C.I.) and relative frequencies of the birth defects groups are presented.

[Prenatal diagnostics of chromosomal aberrations Czech Republic: 1994-2007]. / Prenatální diagnostika chromozomálních aberací Ceská republika: 1994-2007.

AIM OF STUDY: An analysis of prenatal diagnostics efficiency of selected types of chromosomal aberrations in the Czech Republic in 2007. Update of 1994-2007 data according to particular selected diagnoses. TYPE OF STUDY: Retrospective epidemiological analysis of pre- and postnatal chromosomal aberrations diagnostics and its efficiency. MATERIAL AND METHODS: 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 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 over the period under the study, mean incidences of selected types of chromosomal aberrations and mean prenatal diagnostics efficiencies were analyzed. Following chromosomal aberrations were studied: Down, Edwards, Patau, Turner and Klinefelter syndromes and syndromes 47,XXX and 47,XYY. RESULTS: A relative proportion of Down, Edwards and Patau syndromes as well as other autosomal and gonosomal aberration is presented in figures. Recently, trisomies 13, 18 and 21 present around 70% of all chromosomal aberrations in selectively aborted fetuses, in other pregnancies, "other chromosomal aberrations" category (mostly balanced reciprocal translocations and inversions) present more than 2/3 of all diagnoses. During the period under the study, following total numbers, mean relative incidences (per 10,000 live births, in brackets) and mean prenatal diagnostics efficiency (in %) were found in following chromosomal syndromes: Down syndrome 2,244 (16.58) and 63.37%, Edwards syndrome 521 (3.85) and 79.93%, Patau syndrome 201 (1.49) and 68.87%, Turner syndrome 380 (2.81) and 79.89%, 47,XXX syndrome 61 (0.45) and 59.74%, Klinefelter syndrome 163 (1.20) and 73.65% and 47,XYY syndrome 22 (0.16) and 54.76%. CONCLUSIONS: The study gives updated results of incidences analysis of both pre- and postnatally diagnosed chromosomal birth defects in the Czech Republic during the 1994-2007 period. Incidences found in our study correspond (in case of trisomies 13, 18 and 21) with those published widely in literature as well as with those found in large-scale international studies (ICBDSR, EUROCAT). In case of gonosomal aberrations, incidences found in this study are lower that those published, most probably due to a later registration (over 15 years of age of the child) of these diagnoses.

[Birth defects incidence in children from single and twin pregnancies in the Czech Republic--current data]. / Incidence vrozených vad u detí z jednocetných a dvojcetných gravidit v Ceské republice--aktuální data.

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.

[History and present of registration of congenital anomalies in the Czech Republic]. / Historie a soucasnost registrace vrozených vad v Ceské Republice.

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.

[The analysis of incidence of selected types of birth defects in the Czech Republic according to a multiplicity of pregnancy]. / Analýza incidencí vrozených vad v Ceské republice podle cetnosti tehotenství.

OBJECTIVE: To analyze an occurrence of selected types of birth defects in single and multiple pregnancies in the Czech Republic in 1994-2006 period. DESIGN: A retrospective epidemiological analysis of birth defects according to a multiplicity of pregnancy. SETTING: Department of Medical Genetics, Thomayer's University Hospital, Prague. Chair of Medical Genetics, Postgraduate Medical Institute, Prague. METHODS: Data were collected from National Birth Defects Register (Institute of Health Information and Statistics). Incidences of selected types of birth defects according to pregnancy multiplicity 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. In all particular defects, incidences were increased in children born from multiple pregnancies compared to singletons. CONCLUSION: Highest differences in birth defects incidences in children born from single versus multiple pregnancies were found in neural tube defects group and in congenital hydrocephalus.

[Survival in children with birth defects during first year of their life]. / Prezívání detí narozených s vrozenou vadou v prubehu 1. roku zivota.

OBJECTIVE: To analyze infant mortality in children with selected types of birth defects during a first year of their life. DESIGN: A retrospective study with an analysis of prenatal and postnatal occurrence of birth defects in the Czech Republic during 1994 - 2006. SETTING: Department of Medical Genetics, Thomayer's University Hospital, Prague. Chair of Medical Genetics, Postgraduate Medical Institute, Prague. METHODS: Data were collected from national registers (Institute of Health Information and Statistics) and particular departments of medical genetics. A study of frequency of 14 selected birth defects was performed along with an analysis of survival and mortality in children with birth defects during a first year of their life. 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 41458 per 10 000 in 2003. In correctible defects, first year survival was lowest in congenital hydrocephalus (72%) and neural tube defects (anencephaly excluded) (71%). In congenital defects of gastro-intestinal tract and in abdominal wall defects survival was between 82-91%. CONCLUSION: Birth defects present an important contribution to an infant mortality and morbidity in the first year of life. In a comparison of 1980 - 1993 and 1994 - 2006 periods, a significant increase of prenatal diagnostics efficiency was recorded.

[Prenatal diagnostics of selected types of birth defects in the Czech Republic in 1994 - 2006 period]. / Prenatální diagnostika vybraných typu vrozených vad v Ceské republice: 1994 - 2006.

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 (493 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.