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Present view of Down syndrome screening
Hollá, Lucia ; Krofta, Ladislav (advisor)
he topic of his thesis current view on screening Down Syndrome I chose because of his interest in pediatrics, neonatology and Gynecology. Antenatal screening for trisomy 21 began to be implemented in practice beginning of the 70th years. Since then underwent rapid development when the invented many new methods for detection of Down syndrome with constantly increasing efficiency of the test and moving to earlier detection time period of gestation. The task of my thesis is to summarize all available methods prenatal screening for Down syndrome, combinations thereof, and the advantages disadvantages efficiency and their preferences by pregnant women.
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Relationship between screening marker PAPP-A and pathological pregnancy
Stádníková, Lucie ; Krofta, Ladislav (advisor)
Biochemical screening biochemical testing verified indicators of increased risk of failure of gestation and fetal pregnancy has become an important part of prevention of certain těžkých congenital defects (congenital anomalies) in the population scale. the following interact with the ultrasound screening THAT increases diagnostic efficiency, but also by the positive results are becoming indications for in-depth, targeted and repeated ultrasound examinations throughout the pregnancy. Pathological findings of these two expand the range of diagnostic tests prenatal effective prevention těžkých anomalies. There are indications for invasive methods of prenatal genetic diagnostics, but also to increased clinical care of these risk of pregnancy. a The nejpoužívanější biochemical markers that can indicate a higher risk of embryonic or fetal postižení těžkými chromosome anomalies and other contingent závažnými disorders prenatal development are: AFP (alpha-fetoprotein), hCG (human chorionic gonadotropin, human chorionic gonadotropin), uE3 (unconjugated estriol) and PAPP-A (preganancy-associated plasma A protein, plasma protein-A associated with pregnancy).
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Detection of fetal abnormalities in the I. trimester of pregnancy
Finkeová, Kristýna ; Krofta, Ladislav (advisor)
The presented thesis "Detection of fetal abnormalities in the 1st trimester of pregnancy" includes a list of methods used for the detection of fetal abnormalities in the first trimester. At the beginning it briefly summarizes the abnormalities, which can be detected. The second chapter is devoted to various detection methods, in particular, ultrasound examination, invasive methods and biochemical screening. It deals with the various indicators which are assessed during ultrasound examination and the biochemical markers, which can be detected. It describes the combination of detection methods used in practice. The final chapter presents the typical factors that are evaluated when calculating the risk of fetal abnormalities, and the methods used for this calculation.
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The role of 3D and 4D ultrasound diagnosis and screening in first trimester
Hillenbrand, Nicola Birgit ; Krofta, Ladislav (advisor)
Early spontaneous abortions occur in 6-20% of all pregnancies; however, the exact mechanisms involved in these losses remain unclear. In this context, several 2D ultrasonographic parameters have been tested as predictors of early gestational losses including the shape and diameter of the yolk sac, and embryonic heart rate. The mean gestational sac diameter has also been correlated with gestational age and fetal growth. There have been first trimester studies on the volumetric examination of the gestational sac, amniotic fluid, placenta and yolk sac. This dissertation will focus on early pregnancy loss and the investigation of its etiology. Conventional ultrasonographic methods will be reviewed and compared with novel, more sophisticated methods in order to evaluate if scientific research as come closer to the etiology and early diagnosis of miscarriage. Special focus will be put on the predictive value of gestational sac shape and volume.
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Ultrasound diagnosis of congenital malformations (biochemical marker PAPP-A)
Bieberová, Lucie ; Krofta, Ladislav (advisor)
Since the early 90th of the last century there is a worldwide effort to find the method or the group of prenatal diagnostic methods, which wouldn't be invasive for the fetus and wouldn't handle information about fetus already in the earlest stage. For this reason there was a search for both the ultrasound markers and biochemical markers. It was very important to find the method that would be able to disclose any pathology as soon as possible, it means in the first trimester of pregnancy. Appropriate options' combination of ultrasound screening and advantage of setting the biochemical markers offer increased likelihood of prenatal detection capability while maintaining a low rat of false positivity. In I. trimester PAPP-A is used as one of the markers in combined screening of aneuploidies. According to available resources the serum concentration of PAPP-A is significantly reduced between 8 - 14. week below 0,5 MoM in fetuses with Down syndrome. In this monitored set of women (without monitoring of other ultrasound and biochemical markers) 92% of isolated PAPP-A value below 0.5 MoM was associated with birth of healthy fetus.
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