Application of Ultrasonography and Magnetic Resonance for Prenatal Detection
of Cystic Fibrosis. Case Report
Bělobrádek Z.1, Eliáš P.1, Žižka J.1, Hodík K.2, Jüttnerová V.2
Radiologická klinika LF a FN, Hradec Králové1 přednosta prof. MUDr. P. Eliáš, CSc. Porodnická a gynekologická klinika LF a FN, Hradec Králové2 přednosta doc. MUDr. J. Tošner, CSc. Oddělení lékařské genetiky FN, Hradec Králové3 primářka MUDr. V. Jüttnerová |
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Summary:
Cystic fibrosis is a serious genetically determined disease, which significantly decreases
life quality and expectancy. Since a causal therapy is still nonexistent, it is necessary
to direct the effort to early detection during the fetal period of life. DNA analysis
is the main tool in prenatal diagnostics, but it has not been generally applied so far.
In the present case report the authors draw attention to the fact that diagnostic imaging
methods may detect some symptoms, which arise suspicion for cystic fibrosis
defect (increased reflectance of the bowel in ultrasonography, lacking image of gall
bladder in ultrasonography and magnetic resonance, improved quality in differentiation
of gastrointestinal tract imaging by magnetic resonance). The imaging methods
may therefore become significant elements for indication of costly DNA examination
of the fetus. The case report of a 33-years old woman is conspicuous because of being
the first so far published case of cystic fibrosis affection of the fetus, where the pathological
changes were confirmed by magnetic resonance imaging.
Key words:
ultrasound in prenatal diagnostics – cystic fibrosis – ultrasound diagnostics
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