Background: The clinical importance of assessing the fetal KEL genotype is to exclude ‘K'-positive fetuses (genotype KEL1/KEL2) in ‘K'-alloimmunized pregnant women (genotype KEL2/KEL2). Noninvasive assessment of the fetal KEL genotype is not yet available in the Czech Republic. Objective: The aim of this study was to assess the fetal KEL1/KEL2 genotype from cell-free fetal DNA in the plasma of KEL2/KEL2 pregnant women. Methods: The fetal genotype was assessed by minisequencing (a dilution series including control samples). A total of 138 pregnant women (between the 8th and 23rd gestational week) were tested by minisequencing. The fetal genotype was further verified by analysis of a buccal swab from the newborn. Results: Minisequencing proved to be a reliable method. In 2.2% (3/138) of the examined women, plasma sample testing failed; 94.8% (128/135) had the KEL2/KEL2 genotype, and a total of 3.1% of fetuses (4/128) had the KEL1/KEL2 genotype. Sensitivity and specificity reached 100% (p < 0.0001). Conclusion: Minisequencing is a reliable method for the assessment of the fetal KEL1 allele from the plasma of KEL2/KEL2 pregnant women.

Background. Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. Case report. This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. Conclusion. We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma.

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The case is repo rted of a 75-yea r-old female patient deve loping, on the 15th day afte r partial resection of an abdominal aortic aneurysm and replacement w ith vascular prosthesis. acute syndrome of aortomesenteric occlusion of the duodenum. The co nd ition was caused by postoperative haemorrhage into the space framed by the aortic prosthetic replacement and its wrapping w ith the remnants of the aneurysmal sac. Acute ileus arising subsequently was controlled by posterior gastroenterostomv and Braun's ente ro-ente rostcrnv between the afferent and efferent loops. Mesenterica-Superlor-Syndrom nach der Resektion eines Bauchaortenaneurysmas Zusammenfassung wanrend Uber das sag, Mesenterica-Superior-Syndrom im Zusamm enhang mit verschiedensten Krankheitsbildern in der Literatur haufig berichtet w urde, ist die Entwick lung eines Mesenterica-Superior-Syndro ms im Zusammenhang mit der Resektion eines Bauchaortenaneurysmas eine Raritat. Das Mesen terica-Superior-Syndrom beinhaltet eine Kompression des queren Duodenalanteils zw ischen Aorta abdominalis und der daruberziehenden A. mesenter ica superior. In der vorliegenden Arbeit wird Uber eine 75jahrige Patientin berichtet. we lche am 15.Tag nach partieller Resektion eines Bauchaortenaneurysmas und konsekutivem Ersatz der Aorta durch eine Rohrprothese ein akutes Krankheitsbild mit hohem Ileus durch aorto-mesenterialen Verschlufses des queren Duodenatanteites entwickelte. Ursachlich hierfUrw ar ein Bluterqufs zw ischen Aortenprothese und den darOber geraff ten Restanteilen des Aneurysmasac kes. wodu rch das Duodenum nach ventral verlagert und gegen die A. mesenter ica superior gedrUckt wu rde. Das Krankheitsbild konnte echokardiographisch und rontqenoloqisch qeklart w erden. Der dutch die Duodenalkompression entstehende Ileus wurde durch eine hintere Gastroent erostomie und Braunsche-Anastomose zw ischen afferenter und efferenter DOnnda rmschlinge behoben. Die Patienti n erholte sich in der Polqezeit rasch und konnte we itgehend beschw erdefrei entlassen werden.