To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 1850 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 2125 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude nondeveloping pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy., Shahnoza Kamalidinova, and Literatura
Toxoplasmóza je jedna z nejčastějších zoonóz u nás. Patří mezi onemocnění, která mohou při primoinfekci v graviditě ohrozit vývoj plodu či způsobit mnohočetná poškození, často manifestovaná až po narození dítěte. Závažnost postižení, jeho variabilita a pravděpodobnost vzniku závisí na době, kdy se těhotná žena nakazila. V ČR máme k dispozici několik diagnostických metod. Základem je sérologické vyšetření (protilátky celkové i jednotlivých tříd, avidita IgG, komparativní imunoblot), prováděné z krve či plodové vody. Možný je i přímý průkaz DNA Toxoplasma gondii pomocí PCR z krve, plodové vody či po porodu z placenty. Prenatálně se provádí izolační pokus na myši (inokulací plodové vody). Pomocnou metodou je také ultrazvuk či MRI v průběhu těhotenství, se zaměřením na případnou fetopatii. Po narození je dítě z rizikové gravdity podrobně vyšetřeno a dlouhodobě sledováno. Terapii lze podat prenatálně i postnatálně, o jejím efektu se vedou diskuze. Základními preparáty jsou spiramycin, pyrimethamin a sulfadiazin (doplněny kyselinou folinovou). V článku jsou probrány indikace k jednotlivým vyšetřením a doporučeny nejvhodnější postupy v diagnostice, léčbě a také prevenci tohoto onemocnění u těhotných. Text se podrobně věnuje i interpretaci možných výsledků a obsahuje vyjádření k preventivnímu vyšetření těhotných žen u nás., Toxoplasmosis is one of the most common zoonoses in the Czech Republic. Toxoplasma infection during pregnancy can affect fetal development and cause multiple damages that often do not manifest until after the birth. The severity of pediatric disability, its variability and the probability of occurrence depend on the time of maternal infection. Serological diagnosis of toxoplasmosis in pregnant women is performed in two steps: first, total anti-Toxoplasma antibodies are detected, most commonly by the complement fixation test (CFT) combined with IgG ELISA. In the case of a negative result, the woman can be retested 1-3 months later. Low CFT titers show latent infection with a minimal risk of primary infection during pregnancy. When CFT titers of 1:64 or higher are obtained, the second step follows. Positivity in the IgM and IgA tests and low IgG avidity can confirm a recent infection. The diagnosis of fetal infection is based on the detection of anti-Toxoplasma antibodies, and of IgM antibodies in particular, and/or on the detection of Toxoplasma in amniotic fluid by PCR or the mouse test. Other helpful methods are fetal ultrasound or MRI focusing on fetopathy. Each child born from a high-risk pregnancy is thoroughly examined and followed up on a long-term basis. The detection of neonatal anti-Toxoplasma IgM antibodies and a neonatal IgG profile differing from the maternal IgG profile in comparative Western blot are the major markers of congenital infection. Toxoplasma infection can be treated prenatally and postnatally and the therapeutic outcomes are still being considered. The first-line options for congenital toxoplasmosis are spiramycin, pyrimethamine and sulfadiazine with folinic acid. The article discusses the indications for screening and recommends best practices for the diagnosis, treatment and prevention of toxoplasmosis during pregnancy. It also addresses in detail the interpretation of the diagnostic results and provides guidance for preventive screening of pregnant women in the Czech Republic., Petr Kodym, Markéta Geleneky, and Literatura 31