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Gastroschisis is the most common malformation among abdominal wall defects with the incidence of 1:45000 live birth neonates. Postoperative care for these patients is very difficult due to the risk of abdominal compartment syndrome. The identification of markers that correlate with bowel damage in gastroschisis may prevent this serious postoperative complication.Review of the literature.Prenatal ultrasound prediction of bowel damage followed by an appropriate surgical strategy is a possibility of optimizing care and outcomes in gastroschisis patients. The dynamics of I-FABP is a promising biomarker for the elimination of abdominal compartment syndrome during postoperative care.Key words: gastroschisis preformed silo intraabdominal dilatation I-FABP.

Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out.The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders.PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified).In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases.Key words: preimplantation genetic diagnosis; monogenic eye diseases; in vitro fertilization.

This review presents the up-to-date information from published resources on the issue of Posterm pregnancy (Medline, Cochrane Database, ACOG, RCOG, SOGC) and complements the presented guidelines. The most of resources are using the term "postterm pregnancy" for pregnancy reaching or exceeding 42+0 weeks and days of gestation, while late pregnancy is defined as a period in between 41+0 and 41+6.The exact determination of gestational age is necessary for exact diagnosis and appropriate management of late and postterm pregnancy, because these pregnancies have increased risk of perinatal morbidity and mortality.Review.

Foetal anomalies found on ultrasound increase the probability of occurrence of chromosomal abnormalities. They cause about one quarter of all abortions and stillbirths and many of inborn defects in newborns. Karyotype analysis is number one method in prenatal diagnosis whereas array CGH is often used as a verification and supplemental method. The aim of this work was to prove that array CGH gives additional chromosomal findings to karyotypes and could substitute conventional karyotyping as a primary examination method in foetuses with ultrasound findings. We examined 45 prenatal samples using both methods. These samples were referred for invasive examination because of abnormal ultrasound findings. Karyotype analyses found two abnormalities in two (4,4 %) patients and array CGH identified aberrations in five (11,1 %) foetuses whereas both anomalies detected by karyotypes were discovered by array CGH too. This means that array CGH identified about 6,7 % more aberrations than karyotype. Our results correspond with scientific articles which refer that array CGH should replace karyotype not only in postnatal examinations but even in prenatal diagnosis. Keywords: chromosomal aberrations, array CGH, karyotype, prenatal diagnosis, ultrasound

Thyroid hormones play fundamental role in conception and pregnancy and are essential for normal adult health, fetus and childhood development. Many studies have shown an association between maternal thyroid diseases esp. hypothyroidism with obstetric problems and/or psychomotoric impairment in the offspring. The prevalence of undiagnosed lower thyroid function in pregnancy is present in about 4-8 % of pregnant women, and euthyroid women with thyroid autoimmunity (6-8 %) are further candidates for thyroid disorders in pregnancy. The thyroid gland needs to produce 50 % more thyroxine in pregnancy to maintain an euthyroid state to keep TSH ideally 2.5 mIU/l in the first trimester of pregnancy and TSH 3.0 mIU/l in the second and third trimester. Consequently, there is a need to start the substitution therapy as soon as diagnosis of subclinical and /or overt hypotyroidism is established, and in majority of euthyroid women with autoimmune thyroid disease there is a need to start therapy as well. Most women on levothyroxine therapy before pregnancy require an increase in dose when pregnant. As maternal thyroid disease is a quite prevalent condition and often asymptomatic, but easily diagnosed and for which an effective, safe and cheap treatment is available, endocrinological societies including ČES ČLS JEP worldwide are suggesting the need of thyroid dysfunction screening as a simple prevention attitude. Hormone determination of TSH and TPOab antibodies should be performed early during the first trimester, using trimester-specific reference values. Furthermore, adequate iodine supplementation during pregnancy is critical and if feasible it should be initiated before the woman attempts to conceive.

Torsion of the omentum is a rare cause of acute surgical abdomen. Here we describe a case of a pregnant woman with acute abdominal pain and a perioperative diagnosis of necrosis of torted omentum was made.Case report.Department of Obstetrics and Gynaecology, Masaryks Hospital, Jilemnice.Thirty year old female patient, who was 38 weeks pregnant, presented to our department with acute surgical abdomen. Acute appendicitis was suspected and an urgent caesarean section followed by appendectomy was scheduled. However, perioperatively a necrotic part of torted omentum was identified and resected.Torsion of the omentum is a rare cause of acute abdominal pain which is usually diagnosed only perioperatively. This condition usually presents with nonspecific symptoms and most commonly mimics acute appendicitis. Owing to, inexplicit symptoms and wide range of differential diagnoses it is important to think of this entity as a possible cause of acute abdominal pain. Clear indication for abdominal surgery, especially in pregnant patients is essential and requires efficient team working between gynaecologists, abdominal surgeons and radiologists.

Preeclampsia is a serious condition that affects about five percent of pregnant women. The disorder itself or related complications are responsible for a significant percentage of maternal and fetal morbidity, even in developed countries. Although our understanding of etiology is still limited, the possibility of detecting and evaluating certain angiogenic factors by the end of the first trimester gives food for thought about prospects for preeclampsia prevention. Secondary prevention is currently based mostly on the effort to pharmacologically affect the spiral artery transformation and development of the abnormal placental microcirculation which lead to clinical symptoms of preeclampsia. The preventive treatment options are narrow. Greatest effect was noted with acetylsalicylic acid medication in the at-risk population. The dose of 75-150 mg per day is considered optimal. The treatment should start before the 16th gestational week; later initiation of therapy is associated with considerably smaller effect. The incidence of the early-onset preeclampsia (34th gestational week) can be reduced up to 50% while preventive treatment affects the late-onset preeclampsia only minimally. Calcium supplementation is effective only in women with low calcium intake. Question for the future as well as subject of several studies is a clinical significance of low molecular weight heparin and sildenafil.

Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy.Retrospective study.Gennet, Center of Medical Genetics and Reproductive Medicine, Prague.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.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%).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.

Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009.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.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.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.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.

An overwiev of the new diagnostic method of fetal wellbeing - fetal magnetocardiography (fMCG).A review article.Department of Gynecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovak Republic.An analysis of the literature using database search engines PubMed, and SCOPE in field of fMCG.Fetal magnetocardiography is a non-invasive technique able to monitor the spontaneous electrophysiological activity of the fetal heart. Compared to cardiotocography and fetal electrocardiography, this is a more effective method with a higher resolution. The signal obtained from the fetal heart is sufficiently precise and the quality allows an assessment of PQRST complex alterations, and to detect fetal arrhythmia. Thanks to early diagnosis of fetal arrhythmia, there is the possibility for appropriate therapeutic intervention and the reduction of unexplained fetal death in late gestation. fMCG with high temporal resolution also increases the level of clinical trials which record fetal heart rate (FHR) variability. According to the latest theories, FHR variability is a possible indicator of fetal status and enables the study of the fetal autonomic nervous system indirectly. fMCG is an experimental method that requires expensive equipment. It is yet to be shown in the future, if this method will get any application in clinical practice.

Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with X-linked dominat chondrodysplasia punctata (CDPX2). Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus. The diagnosis in the following pregnancy was finished in the first trimester - before the end of the 13th gestational week. The diagnosis was established on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS).

The bachelor's thesis deals with a topic: "The System of the prenatal diagnosis of fetal harm" and it's divided to two parts, the theoretical part and the research section. The theoretical part, which is the introductory part of the thesis, has three main chapters. The first chapter is focused on the prenatal care. This chapter describes the prenatal care in general, who provides that. It is dealt by pregnancy card, which is the essential component of the prenatal care and frequency of checks. The biggest part of the chapter is devoted to a detailed overview regularly and irregularly, or examination carried out in time. The second chapter is focused on prenatal diagnosis of congenital defects in the fetus and describes individual screening methods of investigation and diagnostic methods of congenital defects in the fetus. At the end of this chapter is a mention of Prenascan. It means new and only diagnostic noninvasive tests for congenital defects in the fetus. The last chapter deals with a role of the midwives in the prenatal care. In this chapter it doesn't lack the definition of the midwife, the psychological side of the midwife and the relationship midwife and clients. It's important that the interrelationship was based on trust and respect. The end of this chapter is focused on educational activities of midwives. The education has an important role in the prenatal care. It's very challenging activities from the perspective of midwives, which places demands on knowledge and skills. The midwife educates a pregnant woman about healthy habits, care of herself. It's in connection with prenatal diagnosis of congenital defects in the fetus. The research section focuses on worries of woman, maps quality and satisfaction of woman with the provided information and satisfaction with the attitude of healthy personal. The bachelor's thesis has these goals: The goal 1- Map methods prenatal diagnosis of fetal harm. The goal 2 Find out what information and approaches consider women as important in the area of prenatal diagnosis, when the screening in I. trimester of pregnancy is positive.Based on the above objectives were determined these research question: The Research question 1 What are women afraid of most? (There are women who have increased risk of birth defects). The Research question 2 What quality information have they about the fallowing procedures? The Research question 3 What satisfaction of women is whit attitude of health personal?

My bachelor's thesis topic is "Subjective perception of a prenatal care by pregnant woman" and it is divided into theoretical and practical part. First goal of this bachelor's thesis was to find how is prenatal care perceive by women. Second goal was to find out opinions of pregnant women about birth attendants. Next aim of this work was find out discrepancies and compare prenatal care in Pisek and Tyn nad Vltavou from pregnant women point of view. Survey data were collected through the qualitative research method with semi-structured interviews. Survey sample was form by ten women. This size was divided into two groups, five women from pregnancy advisory center in Pisek and five women who attended same center in Tyn nad Vltavou. Data were recorded in written form or as audio notes, which were rewrite.As emerged from research pregnant women are satisfied with quality of offered prenatal care. Respondents would like to receive more information about pregnancy progress or checkups and prenatal tests. Women also want improve individual approach, better communication with doctors and decrease of the waiting time.As unambiguously follow from results all interviewed women confide in birth attendants.Based on the result of the research I found out that respondents from Pisek are satisfied with all components of prenatal care provided with medical personal.As distinct from situation in Pisek respondents from Tyn nad Vltavou want to improve individual approach and communication with doctor. Research outcome pointed out to the fact that health care is not only about routine work but also about human approach and communication. Results of this work could be used for improving knowledge concerning prenatal care, next is publish in specialized magazines.

Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009.Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic.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. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome.Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the prevalence rates of renal agenesis/hypoplasia ranged between 1.7 and 3.0 per 10,000 live births and in 2000-2009, between 3.9 and 7.7 per 10,000 live births. A major contributor to the upward trend is more frequent detection of unilateral renal agenesis/hypoplasia. The prevalence of tetralogy of Fallot remains nearly unchanged, with prenatally diagnosed cases accounting for more than 20% since 2000. The mean postnatal prevalence rate was 3.20 per 10,000 live births and the overall prevalence rate was 3.54 per 10,000 live births. A similar prevalence trend is seen in large vessel transposition. The mean postnatal prevalence rate was 3.01 per 10,000 live births and the mean overall prevalence rate was 3.38 per 10,000 live births. The proportion of prenatally diagnosed left heart hypoplasia showed a slow upward trend, reaching more than 75% in 2006. The mean postnatal prevalence rate was 1.44 per 10,000 live births and the mean overall prevalence rate was 2.86 per 10,000 live births. Aortic coarctation was diagnosed prenatally most often in 2003 (15.25%), with a mean of 7.5% for the whole period analyzed. Despite the prenatal diagnostic outcomes, the postnatal prevalence rates of left heart hypoplasia did not substantially vary in 1994-2009. The mean postnatal prevalence rate was 4.87 per 10,000 live births and the mean overall prevalence rate was 5.26 per 10,000 live births. The prevalence rates of prenatally diagnosed Down syndrome were continuously increasing from 4.79 to 17.73 per 10,000 live births and conversely, the postnatal prevalence rates were continuously decreasing from 7.79 to 3.31 per 10,000 live births. Increase in the overall prevalence rates can be explained mainly by the demographic situation in the Czech Republic in recent years: the average age at first birth and the first birth rate for women aged over 35 years were on the rise. The rate of prenatally diagnosed Down syndrome doubled from 40% to 80%. Similarly, the prevalence rate of prenatally diagnosed Edwards syndrome was on the rise while that of postnatally diagnosed cases was declining. The rate of prenatally diagnosed cases rose from 63% to 96% over the last two years. The mean prevalence rate of postnatally diagnosed cases was 0.72 per 10,000 live births and the mean overall prevalence rate was 3.78 per 10,000 live births. Similarly, the rate of prenatally diagnosed Patau syndrome increased from 30% in 1997 to 100% in 2009 and the rate of postnatally diagnosed cases was declining. The mean prevalence rate of postnatally diagnosed cases was 0.40 per 10,000 live births and the mean overall prevalence rate was 1.38 per 10,000 live births.The overall prevalence rates of the monitored diagnoses from the group of congenital kidney disease (cystic kidney disease and renal agenesis/hypoplasia) were on the rise in the monitored -period mainly due to advances in imaging technologies (ultrasonography) and their use in both prenatal and postnatal diagnosis. Increase in postnatally diagnosed cases can be attributed primarily to the reporting of less severe cases (cystic kidney disease) or unilateral anomalies (renal agenesis and hypoplasia). As for the monitored congenital heart defects, advances in ultrasonographic imaging diagnosis played a considerable role in the increase of cases. The overall prevalence rate show a slow upward trend, but there is a significant decline in postnatally diagnosed cases due to prenatal diagnosis of a severe anomaly, left heart hypoplasia. As for congenital chromosomal aberrations, several interconnected factors influenced the final rate. Firstly, the proportion of prenatally diagnosed cases increases due to quantitative and qualitative improvements of the screening tests. They resulted in greater efficiency of prenatal diagnosis and, at the same time, in less need for invasive prenatal diagnostic procedures. Another factor is increase in average age at first birth and in the first birth rate for women aged over 35 years resulting in higher overall prevalence rates of Down syndrome, Edwards syndrome, and Patau syndrome in the Czech Republic.

To introduce QF-PCR method for detection of the most common chromosomal (trisomy 21, 18 and 13) and gonosomal aneuploidies at our department in the second-trimester amniotic fluid. To test the hypothesis of chromosomal aneuploidies detection using STR markers of Aneufast® kit via analysing free fetal DNA (ffDNA) isolated from plasma of pregnant women with confirmed trisomy 21 in fetus.A prospective clinical study.Department of Obstetrics and Gynecology, Jessenius Faculty of Medicine and University Hospital in Martin, Slovak Republic.The samples of amniotic fluid were obtained from 67 women (twin pregnancy in 3 cases) in the 2nd trimester (15th to 22nd gestational week (g.w.)). Samples were examined using multiplex QF-PCR via Aneufast kit. In the case of positivity for trisomy 21, they were re-examined using Devyser Resolution 21 kit. All samples were parallelly evaluated by cytogenetic karyotyping. We also analyzed ffDNA from the plasma of 3 high-risk women using Aneufast kit. The plasma samples were obtained in the 2nd trimester(17th to 21st g.w.). Qiaamp DSP Virus kit was used for ffDNA isolation. Trisomy 21 of 3 fetuses was confirmed by karyotyping after 2nd trimester amniocentesis.In the cohort of 70 samples, 7 pathological results (six trisomies 21 and one trisomy 18) were obtained. There was 100% concordance with cytogenetic karyotype in all samples examined by QF-PCR. The amplification of tracked chromosome 21 fragments was not evaluable in the case of ffDNA analysis.QF-PCR was approved as reliable, rapid, quite simple and financially bearable method of prenatal diagnostics. Despite the fact of good availability and work implementation of Aneufast® kit, results of ffDNA analysis are insufficient. We did not obtain interpretable results after ffDNA analysis from maternal plasma in trisomy 21 fetuses.

Prenatal diagnosis mainly focuses on revealing aneuploidies - the most frequent cause of mental and physical retardation in the childhood and perinatal death. Nowadays, fetal cells are obtained by invasive methods of prenatal diagnosis with some risk of spontaneous miscarriage. To eliminate those perils only pregnancies detected by screening as presenting high risk of aneuploidies are subjected to the cytogenetic and molecular-genetic methods. Powered by TCPDF (www.tcpdf.org)

An analysis of prenatal and postnatal incidences of selected birth defects and secondary prevention efficiency in the Czech Republic in 1994 - 2008 period.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).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.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.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.).

Initially, we focused on the detection of extracellular microRNAs in maternal circulation, whose genes are located on human chromosome 21 (miR-99a, let-7c, miR-125b-2, miR-155 and miR-802). Subsequently, we studied if plasmatic concentrations and/or expression profile of extracellular chromosome 21-derived microRNAs would distinguish between pregnancies bearing euploid foetuses and those affected with Down syndrome.Pilot study.Division of Molecular Biology and Cell Pathology, Department of Gynaecology and Obstetrics, Third Faculty of Medicine, Charles University, Prague.12 women with normal course of gestation (mean 16.4 weeks, median 16.0 weeks), 12 pregnancies bearing Down syndrome foetus (mean 18.2 weeks, median 18.5 weeks) and 6 non-pregnant individuals were involved in the retrospective study. RNA enriched for small RNAs (including microRNAs) was isolated from 1ml of plasma sample. Consequently relevant microRNA was transcribed into cDNA using specific stem-loop primer and detected by specific real-time PCR assay.Commercial systems enabled reliable detection of 4 out of 5 extracellular chromosome 21-derived microRNAs (miR-99a, let-7c, miR-125b-2 and miR-155). Expression profile of extracellular miR-99a, miR-125b-2 and miR-155 was significantly higher in the cohort of pregnant women than in non-pregnant individuals. Also plasmatic levels of miR-99a and miR-125b-2 were significantly increased in pregnant women. Unfortunately, the concentrations and gene expression of extracellular chromosome 21-derived microRNAs (miR-99a, let-7c, miR-125b-2 and miR-155) did not differ between the cohorts of pregnancies bearing euploid foetuses and those affected with Down syndrome.Analysis of extracellular chromosome 21-derived microRNAs does not distinguish between pregnancies with euploid and aneuploid foetuses and has no benefit for screening programmes.

Prenatal diagnosisi represents the important fprm of prevention of the inherited metabolic diseases and its accessibility becomes the most effective assistance to involved families. The aim of the study was to introduce prenatal diagnosis of major inherited lysosomal disorders of the group of lipidoses, micopolysaccharidoses, glycoproteinoses, and mucolipidoses.Methodological approach is based on the activity estimation of the specific lysosomal hydrolases that are missing or inactive. Methods were extended by a set of supportive analyses, namely by ultrastructural identification of the lysosomal storage of the non-degraded substrate, DNA analysis showing mutation in the family or by biochemical analysis of the amniotic fluid. Uncultured cultured chorionic villi, cultured amniotic fluid cells yand samples of the amniotic fluid were examined. Altogether 17 pregnancies at risk for seven different lysosomal enzymopathies were followed: GM2 gangliosidosis (2 cases), Fabra disease (3 cases), Krabbe disease (1 case), Niemann-Pick disease type A (1 case), mucopolysaccharidosis I (5 cases), mucopolysaccharidosis II (4 cases), mucolipidosis II (I-cell disease) (1 case). Profound deficiency of enzyme activities (alpha-galactosidase A in fabry disease, galactocerebrosidase in Krabbe disease, alpha-iduronidase in mucopolysaccharidosis I) was identified in three pregnancies, which were terminated on the mother's decision. The diagnose was confirmed by the biochemical analysis of tissues of aborted foetuses. In two of them (Fabry disease, mucopolysaccharidosis I) ultrastructural sings of storage werw proved. In two cases the foetal heterozygote state was identified. In case at risk for Niemann-Pick disease type A, the diagnosis was confirmed also by DNA analysis. In the pregnancy at risk for Fabry disease, heterozygous state was confirmed indirectly according to the difference of alpha-galactosidase activities in cultured and uncultured cells. A set control values of enzyme activities in individual types of processed material (native and cultured chorionic villi, cultured amniocytes, and amniotic fluid supernatant) has been established.Inherited lysosomal enzymopathies represent important indication for prenatal diagnosis available now in our department. Condicio sine qua non is the biochemical or molecular genetic confirmation of diagnosis in the family involved.

From time to time there comes to a stirring up of a society-wide discussion on bioethical issues ? abortion, prenatal diagnosis, assisted reproduction and euthanasia in the Czech Republic. This social discussion is largely influenced by media which present to us interesting news or a story, but it is necessary to realize that these topics have a much broader scope and potential impacts than it is served up to us by media. A wide range of debaters as well as professional and lay public regularly express to bioethical issues relating to the beginning and the end of life. For a fruitful discussion it is necessary to clearly define and specify concepts, because often there is a misguided discussion without any expected results. In the past there was no need to deal with such issues very much, because the order was in hands of Nature. Not completely healthy individuals failed to conceive a child, an unwanted foetus was carried to term and its sex was a surprise for parents and finally, people died naturally according to their age or after a lost match with a disease. For many people Nature, for others some Higher Order. Of course, an incredible scientific development enabled such miracles of which we would have not dreamt hundred years ago yet. We have gained many rights, freedom and democracy as well as a wide-ranging choice. Today we can decide whether to become pregnant and in the same way we can decide that we get rid of the full womb from different reasons. Using diagnostic methods we can determine what a child we carry bellow the heart, but with the help of the same technique it can become uncomfortable for us. We can be treated and live even a century and in many places we can lawfully decide that our life has no meaning and we can finish it. The aim of the diploma thesis is to map readers´ awareness of bioethical issues using a secondary analysis of printed documents from three chosen Czech dailies in 2000 ? 2010 years. To track what triggered a debate among the readers, who discussed and what stance adopted the readers on the issue. The secondary objective was also the mapping of all proponents´ and opponents´ arguments of selected topics and comparing the results with the professional literature. The research shows that the public debate was always sparked by an event presented by the media, to which subsequently responded readers from all areas. According to the research results the public awareness of bioethical issues has been formed mostly by experts directly involved in bioethical dilemmas or carrying out such a profession, in which bioethics greatly interferes. Readers of diverse composition participated in the discussion and the most represented group was a group of experts and a group of lay debaters.

SNP array (array method using Single Nucleotide Polymorphisms) enables to detect cytogenetically undetectable submicroscopic alterations (microdeletions, microduplications), which could be also causative for ultrasonographic anomalies of fetus. This article describes the principle, advantages, disadvantages and application possibilities of the SNP array method in prenatal diagnosis. The ten month experience with SNP array use in prenatal diagnosis is presented.Prospective study.Gennet, Prague.During the period from April 2010 to January 2011 we performed 110 SNP array analyses of fetal DNA: 14 chorionic villi samples (CVS), 88 amniotic fluid samples (AMC), 1 cord blood sample and 7 miscarriage samples. Laboratory tests were carried out on DNA from both cultured and uncultured fetal cells. Examinations were performed in fetuses with sonographic abnormal findings having normal karyotype. In addition 14 fetal cytogenetic abnormalities were solved. SNP array analysis was performed using Illumina InfiniumHD HumanCytoSNP-12 chip. All data were analysed by Illumina KaryoStudio and GenomeStudio software.SNP array analysis was performed in 108 fetuses (only 2 examination failures, 1.8%). In total, we detected CNV (copy number variation) in 29 samples (29/108 = 27%). 15% (16/108) of fetuses with abnormal ultrasound findings were found to carry clinically relevant CNV. Probably benign CNVs were found in 8 samples (8/108 = 7%) and in additional 5 CNVs parental samples have not been analysed yet. Excluding karyotypically abnormal cases clinically relevant CNVs were found in 10% of fetuses (9/94). In all cases with de novo chromosomal aberration the clinical relevancy was clarified (imbalances in 50%).Our data suggest that SNP array analysis is a relevant and useful technique in prenatal diagnosis.

Analysis of incidence of chromosomal abnormalities and variants in foetuses karyotyped because of the advanced maternal age.A retrospective epidemiological study of results of cytogenetic examinations followed amniocentesis in 418 foetuses.In our study we have used data from archives of the Cytogenetic laboratory of the Institute of Biology and Medical Genetics of the First Faculty of Medicine, Charles University and General Teaching Hospital in Prague. We have included only the cases where the amniocentesis was performed solely because of advanced maternal age. All cases were divided in specific groups and analyzed.There were totally 1107 karyotype examinations following the amniocentesis between 2007 and 2009 in our laboratory. Among these cases, 418 amniocenteses (37.8%) were performed only because of the advanced maternal age. The mean maternal age in this group was 38.02 +/- 2.4 years. In the whole group of 418 foetuses, 256 of them (61.24%) had normal karyotype, without chromosomal variants or pathologies. In 9 cases (2.15%) we identified pathologic karyotype. Down syndrome was identified in 3 cases (0.72%), what means one case of Down syndrome per 139 amniocenteses performed because of the advanced maternal age. Among other pathologies there were three (0.72%) gonosomal aneuploidies. Variants of acrocentric chromosomes were identified in 121 (28.95%) foetuses, variants of heterochromatine regions in 53 (12.68%) foetuses and other karyotype variants in one case (0.24%). In some cases, we have identified coincidence of more than one chromosomal variant and/or pathology.Our study presents the overview of chromosomal pathologies and variants that can be identified in fetal karyotype examinations because of the advanced maternal age. The efficiency of Down syndrome identification did not differ from the overall efficiency of amniocentesis in the Czech Republic. Advanced maternal age is still considered as an important part of the indication criteria for invasive prenatal diagnosis.

The bachelor degree thesis focuses on imaging methods in prenatal diagnostics. The theoretical part informs the readers about the current situation in this field, including invasive and noninvasive examination methods. The theoretical part is concluded with a chapter on prenatal detection of heart disease by means of screening examination of pregnant women. The objective of the thesis was to highlight the activities of a radiological assistant, to describe his/her activities during the use of various modalities and possibilities in diagnostics of congenital heart diseases, both prenatally and perinatally. One hypothesis was formulated, concerning the activity of a radiological assistant in diagnostics of congenital heart diseases during the prenatal period. The quantitative research was designed based on the number of examined fetuses and newborns in the teaching hospital (Fakultní nemocnice) in Motol and in the Center of Medical Genetics (Centrum lékařské genetiky s.r.o.) in České Budějovice in the course of 1 year. In 59 fetuses examined with magnetic resonance the following 3 congenital heart diseases were detected most frequently: 7 cases of agenesis of corpus callosum, 6 cases of ventriculomegalia and 7 cases of congenital cystic adenomatoid lung malformation. None of the examined mothers was diagnosed with placenta defects or pathological changes on the fetus heart. The formulated hypothesis has been confirmed. At present, congenital heart diseases are not routinely prenatally examined by means of magnetic resonance due to the too robust technology and insufficient quality of the imaging. The prominent role is still being played by ultrasonic examinations performed by gynecologists and obstetricians. The thesis and the research results may be used by cardiologists, gynecologists, obstetricians, as well as radiologists.

The thesis deals with the applications of ethical principles in prenatal diagnosis. The introduction is devoted to the phenomenon of life and its aspects. The professional medical part characterises the preimplantation and prenatal diagnosis and methods used during the care of pregnant. The ethical part of the thesis describes the origin, the approaches and concepts of bioethics. Further it defines each of bioethical principles which are based on bioethics. At the end of the third chapter various aspects and problems of medical ethics are shown. The aim of the last chapter of this thesis is the ethical reflection in which the different diagnostic methods are examined in terms of bioethical principles. It´s followed by analyzing the current situation ethics of prenatal diagnosis in the Czech Republic. Comparison of different opinions from professionals in this field is interesting and surprising. The fourth chapter is concluded with specific case studies of pregnant women. Conclusions include evaluation and comparison of available information and express my own view on the issue.

The subject of this bachelor thesis is to create a well-arranged and comprehensible review of the current status and possibilities of the prenatal diagnosis, as it nowadays represents an integral part of almost all pregnancies and many pregnant women decide whether to undergo a prenatal diagnosis and which method of the prenatal diagnosis should be employed in order to achieve a maximum guarantee that they will not give birth to a child with a defect. This thesis has a total of six aims. To find out if the midwives are informed about possibilities of screening examinations in the pregnancy, whether they proceed in compliance with the recommendations of the Society for Gynaecology and Obstetrics during these examinations, whether the pregnant women according to the midwives understand the meaning of the screening examinations, whether the pregnant women according to the midwives are interested in performance of screening examinations in pregnancy and whether the pregnant women are interested in optional, above standard examinations that are not fully covered from the health insurance. In order to ascertain these aims, a total of six hypotheses were postulated on the grounds of which an anonymous questionnaire was created that was focused on evaluation of the theoretical knowledge of the midwives about possibilities of screening examinations in pregnancy and on evaluations of pregnant women{\crq}s interest in these examinations based on the opinions of the midwives. The questionnaire contained a total of 26 questions. The cohort of respondents consisted of the midwives working with pregnant women in 79 selected gynaecological-obstetric outpatient departments in Prague where the research was carried out. A total of 146 questionnaires were distributed, the rate of return of which was 66%. The interpretation of the results is based on the total of 94 respondents. The first hypothesis was based on a presumption that the midwives are informed about possibilities of the screening examinations in pregnancy. This presumption was confirmed as the opinions of the respondents were in 66% in accordance with this hypothesis. In the hypothesis 2, there was a presumption that in the field of the screening examinations, the midwives do not proceed according to the recommendations of the Society for Gynaecology and Obstetrics. This hypothesis was not confirmed as nearly all midwives claimed to proceed in compliance with these recommendations. In the third hypothesis, there was a presumption that according to the midwives, the pregnant women do not know the meaning of the screening examinations in pregnancy. This hypothesis was not confirmed as the average of 86% midwives gave a positive answer at this point. The fourth hypothesis was based on a presumption that midwives positively evaluate the importance of the screening examinations in pregnancy. This hypothesis was confirmed as the average of 92% of responders evaluated the importance of these examinations positively. In the fifth hypothesis, there was a presumption that the pregnant women are according to the midwives interested in performance of screening examination in pregnancy. This hypothesis was confirmed as the average of 95% of respondents gave opinions that were in accordance with this hypothesis. The last hypothesis was based on a presumption that the pregnant women are not interested in the optional, above standard examinations that are not fully covered from the health insurance. This hypothesis was not confirmed as the average of 51% of respondents reported the pregnant women to be interested in these examinations. This thesis and the results of the research part should help the midwives and other medical staff to increase the awareness on screening examination methods of the prenatal diagnosis.

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.Retrospective epidemiological analysis of pre- and postnatal chromosomal aberrations diagnostics and its efficiency.Data on pre- and postnatally diagnosed birth defects in the Czech Republic during 1994-2007 were used. Data on prenatally diagnosed birth defects (and for 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.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%.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.

We have better options how to screen for genetic defects during the last decade, but unfortunately in some areas of the country are not all types of the screening available. Strangely, this effect is caused by our demand for higher quality of our services, especially in ultrasound measurment. Gynaecologists should have good knowledge of all possibilities how to screen, should know the advantages, the disadvantages and the limitations of all screening tests. The article gives an overview of screening tests and it should be a guide for physicians and pregnant women what kind of screening is possible to do and what to expect from it.

To analyze an efficiency of prenatal diagnostics of selected types of birth defects in the Czech Republic in 1994 - 2006 period.A retrospective epidemiological study and a prenatal diagnostics efficiency analysis.Department of Medical Genetics, Thomayer's University Hospital, Prague. Chair of Medical Genetics, Postgraduate Medical Institute, Prague, Czech Republic.Data were collected from National Birth Defects Register (Institute of Health Information and Statistics). Incidences of selected types of birth defects were analyzed.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.In a comparison of 1980 - 1993 and 1994 - 2006 periods, a significant increase of prenatal diagnostics efficiency was recorded.

An analysis of the efficiency of prenatal diagnostic of selected birth defects in the Czech Republic and its dynamics in past 30 years according to birth defect type and prenatal diagnostic methods.Retrospective epidemiological analysis of selected birth defects, prenatal diagnostics efficiency.Data from the National Birth Defect Register (Institute for Health Information and Statistics) in the Czech Republic in the 1975 - 2005 period were used along with data on prenatally diagnosed and terminated pregnancies from the same period. Mean prenatal diagnostic efficiency values of selected types of defects were analyzed in 5-year periods and minimal/maximal values were assessed.During 1975 - 2005 period, totally 3,935,209 children were born, out of which 83,970 were with a birth defect. Mean incidence was 213.38 per 10,000 live births (with the highest value of 414.58 in 2003). In 1985 - 2005, 7,398 cases of prenatally detected birth defects (resulting in pregnancy terminations) were registered, which made (in relative numbers) a span from 4.9 defects per 10,000 live births in 1985 to 65.2 per 10,000 live births in the year 2005. During this period, an important increase of diagnostics of prenatally detectable defects occurred.The study gives results of relative efficiency of prenatal diagnostics of particular birth defects. The highest efficiency was in anencephaly and encephalocele (100%), the other defects showed the following numbers: spina bifida 81%, congenital hydrocephalus 67%, omfalocele 67%, gastroschisis 92%, cystic kidney 59%, renal agenesis 50%, diaphragmatic hernia 35% and Down syndrome 74%.

The aim of this study is to evaluate the significance of nasal bone as a marker for trisomy 21 in the group of women that underwent invasive procedures in our center at 11 to 14 weeks' gestation.The data of 181 women who had undergone the invasive procedures were evaluated for the presence or absence of nasal bone retrospectively and were correlated with fetal karyotype.A successful view of the fetal profile was obtained in 135 fetuses. The nasal bone was absent in 5 of 8 fetuses with trisomy 21 and in 3 of 4 fetuses with trisomy 18. In the group of chromosomally normal fetuses the nasal bone was absent in 4 of the 123 cases. The false positive rate of our screening program dropped from 4.5% to 2.5% after the introduction of the nasal bone evaluation into our risk calculation model for trisomy 21.Nasal bone evaluation improved the detection of trisomy 21 in the first trimester in our screening program and reduced the need for invasive procedures in our department. Absence of the nasal bone showed a sensitivity of 63% for a 5% false positive rate for trisomy 21 in our study. It is rarely observed in chromosomally normal fetuses (2.5%). An appropriate training is mandatory in order to achieve acceptable results.

An analysis of prenatal diagnostics of birth defects in the Czech Republic in 2004 and a comparison to data from 1996 - 2003.A retrospective analysis of data from a Register of Prenatal Diagnostics of the Czech Republic.Data on birth defects in the Czech Republic from particular departments of medical genetics and prenatal diagnostics from 1996 to 2004 time period was used. An analysis of data on prenatal diagnostics of selected type of birth defects was performed.During 1996 to 2004 period, a total of 4,126 prenatally diagnosed and terminated cases were reported. In 2004, 597 cases were reported, which presents 61.1 cases per 10 000 live births. (The mean rate from the total period under the study was 49.8 per 10 000 live births.)Current data on birth defects in a 9-year period in the Czech Republic are presented. The role of prenatal diagnostics in decrease of some severe types of birth defects is underlined.

In recent years has been intensified an effort to develop early more exact non-invasive methods for prenatal diagnosis. We report our experience to screen trisomy 21 and other chromosomal abnormalities in the first trimester in so-called OSCAR (One-Stop Clinic for Assessment of Fetal Risk).It is a retrospective study held at the Department of Medical Genetic and Fetal Medicine, Teaching Hospital, Olomouc.A group of 2110 pregnant women has been screened by maternal age as a background risk, fetal nuchal translucency, nasal bone as ultrasound markers as well as maternal serum level of free beta-subunit human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) as a biochemical markers between 11 - 13+6 weeks of pregnancy from January 2004 to December 2005. The Fetal Medicine Foundation Guidelines and software were the methods and tools used for screening. Karyotyping by chorionic villous sampling or amniocentesis was offered to women with risksor = 1 in 300.We reported 100% sensitivity for this method for a 4, 6% false positive. There was detected 21 chromosomal abnormalities in which 10 were trisomy 21. This is the first result to be published for this screening method in the Czech Republic.In our experience first trimester screening for trisomy 21 and other aneuploidies has a high sensitivity with a low false positive rate and can be delivered in an efficient manner in a one-stop multidisciplinary clinic.

Biochemical screening test for Down's syndrome now offered in the 16th to 20th week of pregnancy reaches 60-65% sensitivity with 5% false positives. Newly introduced combined test done between 11+0 to 13+6 weeks of pregnancy, maternal serum biochemistry (free beta hCG a PAPP-A) and foetal nuchal translucency measurement, offer very early identification of Down's syndrome in foeti. The purpose of our study was the introduction of the new method and confirmation of the expected sensitivity and false positivity in our conditions.The combined test identified 5 of 6 (83%) of Down's syndrome foeti from the studied group of 2573 pregnancies. The false positive rate was 2.2%. Women aged 35 years or more represented 15% of our cohort. One Down's syndrome foetus with normal combined test was identified in the 21 week of pregnancy due to its heart failure which was diagnosed with ultrasound. Morover, 4 foeti with Edwards- and one with Turner syndrome were identified.In comparison with the second trimester biochemical screening, the first trimester combined test offers the information at the end of first trimester, it has higher sensitivity and low false positivity. The combined test gives clear outcomes, easy audit and control over ultrasound and biochemical results. Introduction of the first trimester screening requires strict adherence to the method both by the sonographer and the biochemical laboratory, and the acceptance of rigorous audit rules.

AIM AND TYPE OF STUDY: A retrospective study and analysis of data on gestational week at the time of the birth defect diagnoses of both invasive and non-invasive type as well as on gestational week at the time of pregnancy termination in the Czech Republic over the 1996-2003 period.Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data were collected for both birth defects as a total as well as for selected particular types: anencephaly, spina bifida, omfalocele, gastroschisis and Down syndrome. An analysis on gestational weeks at the time of diagnosis and/or pregnancy termination was performed.Mean gestational week at the time of diagnosis was 19.49 for total birth defects and 20.02 for pregnancy termination. Corresponding values (diagnosis x termination) in gestational weeks were as follows: Anencephaly 17.01 and 17.69, spina bifida 19.41 and 19.68, omfalocele 17.64 and 17.99, gastroschisis 17.63 and 1836, Down syndrome 19.81 and 20.43.Results of aggregate data analysis contribute to a better knowledge of different methods of prenatal diagnosis during different gestational periods. All values of mean gestational week at the time of diagnosis/pregnancy termination slightly decreased during the time of the study in all presented types of birth defects.

Analysis of stagnation of perinatal mortality level in the CR in 2000-2004.Retrospective nationwide epidemiological study of selected indicators of perinatal care level.Institute for the Mother and Child Care, Prague, Czech Republic.Comparison of selected indicators of perinatal care and conditions for such care during years period 2000-2002 and 2003-2004.Stagnation of perinatal mortality in the Czech republic since 2000 has been the result of two opposite process. On one side it is the continuous increase of newborns of low birth weight as a result of not only biological but also demographic and socio-economic risk factors, which create unfavorable envirement for provision of perinatal care. On the other side it is the improved professional care observed in two areas (prenatal diagnosis of congenital malformations and intensive care in newborns of extremely low birth weight). During 2003-2004 we were still able to observe odds of improvement of professional care against the deteriorating conditions which led to further decrease of perinatal mortality by 0.27 per thousand on average. However, there is a danger that negative factors will prevail in the near future, because reserves for the further improvement of professional care are exhausted and analyzed unfavorable factors are continuously on the rise. This could lead to an increase of the curently low perinatal mortality level.Stagnation of perinatal mortality in the Czech Republic during the last five years in a range of 4.0-4.4 per thousand is a result of two opposite processes. On one side it is due to improved level of professional care in prenatal diagnosis, and due to centralized intensive care of newborns of extremely low birth weight. However, the reserves in those two areas are already exhausted. On the other side there are the deteriorating conditions (demographic and social) for such care, which are continuously on rise. While the first process has been prevailing until now with the resulting minimal decrease of perinatal mortality by 0.4 per thousand, there is a danger that the ballance will change in the near future.

Tuberous sclerosis is an autosomal-dominant disease characterised by development of benign growth - hamartomas in different organs. Disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 or TSC2. Quest for causing mutations is very difficult due to their random distribution over the genes.Article refers on accomplishment of the first tuberous sclerosis prenatal diagnostics in Czech Republic based on knowledge of causing mutation. Foetal DNA sample, obtained in 13th week from Q435X family pregnant woman, was analyzed by DGGE method.Examination excluded presence of tested TSC1 gene defect in an offspring.

Problems of maternal and foetal genotype differentiation of maternal plasma in pregnant women are solved generally by real-time systems. In this case the specific probes are used to distinguish particular genotype. Mostly gonosomal sequences are utilised to recognise the male foetus. This work describes possibilities in free foetal DNA detection and quantification by STR.Artificial genotype mixtures ranging from 0,2 % to 100 % to simulate maternal and paternal genotypes and 27 DNA samples from pregnant women in different stage of pregnancy were used for DNA quantification and detection. Foetal genotype was confirmed by biological father genotyping. The detection was performed in STR from 21st chromosome Down syndrome (DS) responsible region by innovated (I) QF PCR which allows to reveal and quantify even very rare DNA mosaics. The STR quantification was assessed in artificial mixtures of genotypes and discriminability of particular genotypes was on the level of few percent. Foetal DNA was detected in 74 % of tested samples.The IQF PCR application in quantification and differentiation between maternal and foetal genotypes by STR loci could have importance in non-invasive prenatal diagnostics as another possible marker for DS risk assessment.

Understanding the pathogenesis of haemophilia A has allowed for detailed diagnosis of the condition at molecular level. Evaluation of interaction between factor VIII and von Willebrand factor has been utilised to distinguish mild forms of haemophilia A from von Willebrand disease. Discovery of wide spectrum of mutations in the factor VIII gene and their association with different severity of the disease allowed for development of a rational strategy for mutation detection in clinical settings. Characterisation of the genetic defects is required for carrier detection and antenatal testing and it also helps to predict risk of factor VIII inhibitor development. Research is ongoing to establish less invasive prenatal testing and to move the testing to pre-gravid period.

A case history and the steps taken in diagnosing congenital toxoplasmosis in a child whose mother experienced asymptomatic infection with the protozoon Toxoplasma gondii are presented. At pregnancy week 35, amniocentesis was performed because of fetal hydrops, ascites, hepatosplenomegaly and dilated left lateral brain ventricle on sonography. Laboratory tests showed high titers of IgM, IgE and IgA antibodies (acute infection markers) against Toxoplasma gondii in serum of the pregnant woman. Congenital toxoplasmosis in the new-born spontaneously delivered at week 41 was confirmed by detection of Toxoplasma gondii DNA in blood, acute infection markers in serum and hydrocephalus and calcifications on brain sonography. The woman received intensive treatment for toxoplasmosis during the last pregnancy trimester and her new-born child's treatment started immediately after delivery. The accurate diagnosis and early institution of therapy in both the pregnant woman and her child led to progressive normalization of laboratory tests (decreased titers of antibodies and Toxoplasma gondii DNA negativity) and significant regression of the brain lesions in the child.

A retrospective study of data with an analysis of the prenatal and postnatal incidence of selected types of birth defects in the Czech Republic during the period from 1994 to 2003. The objective was also to analyse the percentage of deceased children born with selected types of congenital defects from the total number of deceased children.The data on prenatal diagnostics were obtained from particular department of medical genetics in the Czech Republic. The data on the incidences of birth defects in the born children were obtained from the data of the National Health Registers, the administration of which has been entrusted to the Institute of Health Information and Statistics of the Czech Republic (IHIS CR). Specifically, the data from the National Register of Congenital Defects and the National Register of Neonates were used. The analysis of the frequencies of prenatally and postnatally diagnosed cases of twelve selected types of birth defects was carried out for the Czech Republic for the period from 1994 to 2003. For the cases of postnatally diagnosed defects, an analysis of survival and mortality of the affected individuals during the 1st year of life was carried out for selected types of birth defects.In the period 1994-2003, a total of 932,153 children were born in the Czech Republic. Including the cases of successful prenatal diagnostics, we analysed 268 cases of anencephalia, 384 cases of spina bifida and 80 cases of encephalocele, 425 cases of congenital hydrocephalus, 261 cases of omphalocele and 258 cases of gastroschisis, 225 cases of congenital defects of oesophagus and 279 anorectal malformations; 232 cases of diaphragmatic hernia, 411 cases of agenesis/hypoplasia of kidneys and 438 cystic kidneys; and 1,412 cases of Down's Syndrome. The success rate of secondary prevention was high for the defects of neural tube (55-96%), for the defects of abdominal wall (55-78%) and for the Down's Syndrome (59%). As concerns the defects treatable by surgery, the survival rate in the first year of life of the born children was lowest in the case of congenital hydrocephalus (63%) and in the case of neural tube defects (75-84%). However, in the case of GIT congenital defects (the defects of abdominal wall, diaphragmatic hernia, congenital defects of oesophagus and anorectal malformations), 82 to 91% of the born children survived.Immaturity and concurrent incidence of additional birth defects prolong the period of hospitalisation, UPV and total parenteral nutrition in the case of the affected neonates. This deteriorates the prognosis of the children born with birth defects. Possible reduction of the incidence of these cases could be achieved through improvement in prenatal diagnostics, specifically through more timely identification of mainly the serious types of defects with the presence of associated congenital defects. Another possibility to improve the survival rate of children is the development of surgical procedures and specialised neonatal and infant intensive care.

To evaluate the week of pregnancy in which birth defects were prenatally identified and the week of pregnancy in which pregnancy was terminated due to these defects in the Czech Republic in the period from 1996 to 2002. As regards data on Down's Syndrome, comparison to the data from other countries.A retrospective study, which identifies the week of pregnancy when congenital defects are identified through invasive as well as non-invasive prenatal diagnostics and the week of pregnancy when the pregnancy is terminated because of these defects.The data were obtained from individual medical genetics facilities. The data are stated for all defects prenatally diagnosed as well as for the defects, which are most frequently prenatally diagnosed - from among neural tube defects, anencephaly and spina bifida were covered; from among abdominal fissures, omphalocele and gastroschisis were covered. Out of inborn chromosomal aberrations, the most frequently diagnosed chromosomal aberration - Down's Syndrome - was covered.The average time of prenatal diagnostics of the birth defects was 19.48 week and the average time of termination of pregnancy due to these defects was 20.11 week. Anencephaly was diagnosed after 17.16 weeks and terminated after 17.84 weeks of the pregnancy on the average. Prenatal diagnostics of spina bifida was carried out after 19.25 weeks and terminated after 19.70 weeks. Omphalocele was identified after 17.55 weeks and terminated after 17.99 weeks. The second type of defect of abdominal wall - gastroschisis was identified after 17.93 weeks and terminated after 18.65 weeks. On the average, Down's Syndrome was diagnosed after 19.81 weeks and terminated after 20.43 weeks. It can be said about all the defects that during the monitored years there was a slight reduction of the period after which the defect was identified as well as of the period after which pregnancy was terminated.For all the presented selected birth defects as well as for the defects as a whole, it can be said that during the monitored years there was a slight reduction of the average period after which the defects were identified and as well as of the average period after which pregnancy was terminated.