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Aim: Trefoil peptides are a family of small proteins that are expressed in a site-specific fashion by certain epithelial tissues. These peptides might be used as markers for neoplastic uterine disease., Design: Experimental study., Setting: Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacký University, Olomouc; Department of Laboratory Biochemistry, Central Moravian Hospital Trust, Member of Agel holding, Prostějov., Methods: During the time period from 2012 to 2015 eighty-nine women underwent hysteroscopy and endometrial biopsy for postmenopausal bleeding. Fifty three patients, at the age of (mean ± standard deviation) 63,4 ± 9,5 (33-80) years were diagnosed with endometrial cancer, six patients at the age of 62,9 ± 6,4 (55-74) years were diagnosed with endometrial hyperplasia and thirty patients at the age of 63,3 ± 9,3 (48-62) years diagnosed with endometrial atrophy represented control group. At the day of surgery the venous blood was sampled and subsequently examined for the levels of TFF1, TFF2 and TFF3., Results: TFF3 levels were significantly higher in patients with endometrial carcinoma but not in endometrial hyperplasia subgroup. The levels of TFF1 and TFF2 were not different in selected histopathological subgroups., Conclusion: We have shown elevated levels of TFF3 but not of TFF1 and TFF2 in patients with endometrial cancer. TFF1, TFF2 and TFF3 levels were not elevated in patients with endometrial hyperplasia.

Aim: Trefoil peptides are a family of small proteins that are expressed in a site-specific fashion by certain epithelial tissues. These peptides appear to be important in mucosal healing processes, in neoplastic disease and in human reproduction., Design: Literature review., Setting: Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacký University, Olomouc, Czech Republic; Department of Laboratory Biochemistry, Central Moravian Hospital Trust, Member of Agel holding, Prostějov., Methods: Literature review., Results: Trefoil peptides are aberrantly expressed by a wide range of human carcinomas and gastrointestinal inflammatory conditions. Outside the gastrointestinal tract, members of this group of peptides have also been identified in the normal hypothalamus and pituitary, and in normal breast tissue where it is responsive to oestrogen stimulation. Evidence of peptide expression has been found in a range of urological, gynaecological, gastrointestinal, pulmonary and breast carcinomas. Furthermore, possible associations between recurrent spontaneous abortion susceptibility and genetic varia-tion in the TFF3 gene were shown.Conclusion In the future, serum levels of trefoil peptides might be used as markers for neoplastic and inflammatory diseases, as well as some defects of reproduction.

Objective: Informative review of possible causes and therapy of habitual pregnancy loss and infertility., Design: Review., Settings: Department of Gynecology and Obstetrics, General Faculty Hospital of Charles University, Prague., Subject and Method: The repeated (habitual) loss of pregnancy is defined by three or more spontaneous abortions. Approximately 0,4 to 1% of women are affected. The pregnancy loss is more frequent in women younger than 20 and older than 35 years. The frequency of spontaneous abortions parallels the number of previous pregnancies. The causative treatment of women with recurring abortions is not available, however, it is recommended that such women are evaluated by available methods to eliminate etiological causes of repeated pregnancy losses., Conclusions: Effective therapy is possible when the diagnostic reason for repeated abortions is determined. Nevertheless, the causes leading to repeated pregnancy losses are identified only in approximately 12% of women. However, alleged and unexplained infertility, resulting in habitual pregnancy losses has a favorable prognosis.

In recent years the number of the young women in fertile age which are oncologically treated is increasing. For these women chemotherapy and radiotherapy introduces potential risk of reproductive dysfunctions. Present techniques of assisted reproduction are offering possibilities to save reproductive functions even after the oncological treatment. As a perspective outlook seems to be frozen premature oocytes with IVM and fertilisation. With these fertility savings methods are naturally coming up some of the ethical and legal issues.

Objectives: 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., Design: Prospective study., Settings: Gennet, Prague., Material and Methods: 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., Results: 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%)., Conclusion: Our data suggest that SNP array analysis is a relevant and useful technique in prenatal diagnosis.

Study Aim: Analysis of the set of women that underwent the termination of pregnancy in IInd trimester at the OBGYN clinic, Teaching Hospital Na Bulovce at interval of years 2006-2007. We appreciated the effect of method and compared with references in the literature. TYPE STUDY: Retrospective descriptive study. SEATTING: OBGYN clinic of the 1st faculty of Charles University, teaching hospital Na Bulovce, Prague., Method: Retrospective analysis of the set of women that underwent termination of pregnancy in the IInd trimester. Data are obtained from medical documentation and statistically processed. The analysis treats with 50 cases, in all of them, cervix was prepared with hydrophile dilators. In 37 cases were subsequently handed up prostaglandins intraamnially, in two cases generally intravenously, in two cases vaginally and 9 pregnancies were finished directly by dilatation and curettage without endeavour about expulsion., Results: From 37 women after intraamnial administration of prostaglandins, 35 (94.6%) aborted successfully. Average time from amniocentesis to expulsion was 13 hours 45 minutes, 23 women aborted to 24 hours (62.2%). Undesirable effects were present in 12 cases (32.4%)., Conclusion: Our record of local intraamnial administration of prostaglandins appears to be effective method. On the other hand, other methods are described in recent literature, which appear to be more efficient and have smaller occurrence of adverse effects.

Objective: Proposal of antenatal Down syndrome screening protocol using integration of first and second trimester results., Design: Review., Setting: Antenatal screening centre GENNET, Prague., Methods: Search of relevant articles, software analysis and pilot implementation., Results: Screening of Down syndrome (DS) is divided into two phases: at first phase combined DS risk is calculated using pregnancy plasma protein-A (PAPP-A) at 9th-11th gestational week and ultrasound fetal nuchal translucency (NT) at 11th-13th week with risk cut-off 1/100 (about 2 per cent of screened). Positive mothers are counselled immediately after NT measurement: First phase negative mothers continue to second phase where PAPP-A and NT values are integrated with second trimester screening results. Protocol is supported with special software (Obstetrician's Screening Guide-OSG)., Conclusion: At proposed protocol the information on significant first trimester DS risk is not withheld to second trimester and mother can choose early prenatal diagnosis. Expected detection rate is near 90 per cent at 5 per cent false positive rate.

Objective: Elaboration of a maximally safe and comfortable technique of collection of amniotic fluid (AMC)., Design: For practice., Setting: Gyncentrum Ltd., Hloubĕtínská 3, Praha 9, Dept. of Medical Genetics GENNET, Klimentská 1, Praha 1., Method: In 81 patients AMC was performed using a needle with an external diameter of 0.53 mm, by the sampling system Vacutainer of Becton-Dickinson Co., Conclusion: The method elaborated by the authors appears to be perspective for use in invasive procedures in the sphere of prenatal diagnosis.

Objective: Analysis of data from prenatal cytogenetic studies performed during 10 years., Design: Retrospective analysis of cytogenetic results., Setting: Cytogenetic laboratory, Department of Clinical Genetics GENNET, Prague., Methods: Cytogenetic analysis of cultivated amniotic cells., Results: 180 chromosomal pathologies, including 110 numerical and 70 structural, were diagnosed in 5743 samples of amniotic fluid. Relatively high number of structural aberrations was found also in groups of patients examined because of increased maternal age, abnormal values of biochemical markers and abnormal ultrasound findings. Chromosomal abnormalities in individual groups of patients, risk figures for de novo balanced structural aberrations, additional marker chromosomes and some mosaic findings as the management following the prenatal diagnosis of this abnormalities are discussed., Conclusion: On the basis of the great number of familiar structural aberrations in our material is recommended to pay attention to the detection of such anomalies also in groups of patients where numerical chromosomal changes are namely expected.

Objective: The implementation of antenatal screening for Down's syndrome at 10-13. week using nuchal translucency, maternal serum free subunit of human chorionic gonadotrophin and the mother's age., Design: Nuchal translucency scan (NT) and serum free beta human chorionic gonadotrophin subunit (FB hCG) were measured at 283 consecutive pregnant women booked at the same antenatal care facility between 10-13. gestational week., Setting: Antenatal screening center Klimentska, Prague., Methods: Medians of both markers according to gestational age as well as retrospective combined risk of Down's syndrome were assessed., Results: 95 per cent of NT measurements was below 1.77 multiples of median. 95 per cent of FB hCG measurements was below 1.88 multiples of median. Combined risk higher than 1/300 had 1 per cent mothers (total 3 screen positive results)., Conclusion: The results of this pilot study serve for implementation of screening for Down's syndrome at 10-13. week as well as for integration of both first and second trimester screening systems.

Medical records of 1179 pregnant women counselled at the Department of Medical Genetics Klimentska during the period 1990-1995 because of exposure to medicaments during the preconception period and in the first trimester were analyzed. Women exposed to antimicrobial agents prevailed (48 per cent). Most frequent was treatment with Doxycycline, Co-trimoxazole and Metronidazole. 23 per cent of women were exposed to sex hormones, most frequently to oral contraceptives and norethisterone. The average gestational age at exposure to antimicrobial agents was 21.5 days and 30 days at exposure to sex hormones. Specific features of clinical-teratological counselling and the role of the Czech Teratologic Information Service are described.

Between January 1992 and March 1994 in Klimentska Screening Centre 635 second trimester amniocenteses were performed because of the risk of a chromosomal aberration. 416 (66 per cent) procedures were recommended because of the mother's age over 35 years and 219 ones (34 per cent) because of a positive screening test. Maternal serum alpha-fetoprotein and human chorionic gonadotrophin were used as screening markers in most cases. Five trisomy 21 cases in the advanced age group were detected. Serum markers were assessed in three older mothers with an affected foetus after amniocentesis. All were ex post screen positive. Three trisomy 21 foetuses of mothers younger than 35 years were detected in the screen positive group. Recent advances in screening for Down's syndrome and other congenital defects are discussed.

The authors evaluated the risk of chorion biopsy used within the framework of prenatal diagnosis of the foetus. The incidence of abortions following transabdominal CVS (0.6%) did not differ from abortions after amniocentesis in the second trimester (0.5%). In a group of 1002 diagnostic biopsies of the chorion the authors did not record in the born infants reduction deformities of the extremities. Chorion biopsies were performed in 98% between the 10th and 12th week of gestation. The incidence of mosaicism--1.59%--was not significantly higher than reported in the literature. The authors recommend: to increase the size of the sample of chorion tissue by the use of a manual aspirator, the use of a 30 ml plastic syringe or the double needle method. They consider CVS a suitable method which serves the diagnosis of IUGR and the prenatal diagnosis of the foetus before the 20th week of gestation when cordocentesis involves risk.