Plasma cysteine concentrations in uncomplicated pregnancies.

OBJECTIVE: To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS: Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in the 30th to 32nd weeks. Plasma total cysteine, homocysteine, cysteinylglycine and glutathione were determined by HPLC method. Women were followed until delivery. Sixty-two pregnant women were normotensive throughout the pregnancy and 3 developed pre-eclampsia. Median levels of thiols in the second and the third trimesters were compared using paired t test. RESULTS: Levels (median [range], micromol/l) of plasma total cysteine in normotensive pregnant women were significantly lower in the third than in the mid-trimester (176.1 [163.0, 189.4] vs. 187.4 [178.7, 205.2], p < 0.001). Concentrations of total homocysteine, cysteinylglycine and glutathione were not different. CONCLUSION: Plasma total cysteine (t-Cys) is significantly lower in the third compared to the second trimester. Urinary excretion of t-Cys does not differ in the second compared to the third trimester. The decrease of t-Cys might indicate that cysteine is essential for the fetus.

[Prenatal diagnostics during the first trimester in the clinical praxis]. / Prenatální diagnostika v prvním trimestru gravidity v klinické praxi.

BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSIONS: 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.

[Indications and interventions in prenatal diagnostics in eight centers in the Czech Republic]. / Indikace a výkony prenatální diagnostiky v osmi centrech v Ceské republice v letech 2002-2003.

OBJECTIVE: To register the spectrum of indications and types of invasive procedures in clinical practice. METHODS: We offered participation in the project to all prenatal diagnostic centres in the Czech Republic. We provided a database for entering the necessary data in Microsoft Access format. During the period of 2002-2003, we obtained data of 5800 prenatal diagnostic procedures from eight centres. RESULTS: The data analysis revealed that the amniocentesis was the most used procedure--90.2%--Cordocentesis 4.8%, termination of pregnancy 2.34%, and multifetal reduction 1.03%. All other procedures (intraumbilical transfusion, amniodrainage, amnioinfusion, early amniocentesis < 15th week of pregnancy puncture of fetal organs, chorionic villus sampling, umbilical vessel coagulation) participate with less than 2%. Only 0.5% cases recorded amniocentesis complications. Of the 277 well-documented cordocentesises, we noted only one serious complication, or 0.36%. The steadily increasing number of amniocenteses contributes to the increased number of invasive prenatal procedures. In only 64.5% of our database, based on verifiable higher risk, amniocentesis was indicated. DISCUSSION: The spectrum of invasive procedures in Czech Republic appears quite broad but if we separate amniocentesies, we observe that other procedures are performed sporadically and only some centres. Out eight participating centres perform six types of procedures less than 20 times a year. CONCLUSIONS: Invasive prenatal diagnostics in Czech Republic is represented mainly by amniocentesis. Cordocentesis is performed routinely but in few centres. Advances in 1st trimester screening will likely lead to an increase in chorionic villus sampling. Indications, quantity, results and complications of all invasive procedures should be registered and audited.

[Is the information we give women prior to invasive prenatal procedures adequate?]. / Jsou informace, které poskytujeme tehotným zenám pred invazivním prenatálním vysetrením, dostatecné?

BACKGROUND: The aim was to evaluate the psychological impact on women undergoing invasive procedures of prenatal diagnosis. SETTING: Department of Gynecology and Obstetrics, 1st Medical Faculty, Charles University, Prague. MATERIAL AND METHODS: A questionnaire was given to 200 pregnant women and to 160 midwives and students. The acquired data were statistically evaluated using the non-parametric chi 2 test for a 5% confidence interval and the Kruskal-Wallis test (analysis of non-normal distribution of random variables). RESULTS: We found that 85% of pregnant patients were satisfied with the information given by their obstetrician prior to the procedure, 53% of the patients were distressed about the procedure. The largest percentage of patients feared complications of the procedure, while fear of the results of the procedure took second place. CONCLUSION: We found that only some of the patients and midwives had complete information about the actual method of performing these procedures, about the risk, and about the time it takes to obtain results. Most patients receive their information from a doctor-geneticist, which is in agreement with our system. The patient's distress regarding the procedure is not dependent on the level of education. From the acquired data, it follows that greater significance should be placed on the informing patients as well as midwives about all aspects of performing invasive procedure of prenatal diagnosis. According to our study, neither the patient nor the midwife have an adequate perception of the benefits and risk of prenatal diagnostic examinations.