Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility.

Aim: The aim of this study was to evaluate TSPY (testis specific protein on the Y chromosome) gene and 5'UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls.

Methods: We analyzed 72 infertile men and 31 fertile controls usingconventional sequencing analysis to find crucial SNPs (single nucleotide polymorphism) and other changes.

Results: The most remarkable changes were found in the 1(st) exon only.

Implementation of One-Stop-Clinic for Risk Assessment of chromosomal abnormalities in the first trimester, evaluating the effectiveness and making it part of our daily practice.

Objectives: Implementation and introducing of first trimester screening using nuchal translucency (NT), nasal bone (NB), maternal serum pregnancy associated plasma protein-A and free beta-human chorionic gonadotropin (PAPP-A and fbeta-hCG) as a new method of screening for Down's Syndrome in a One-Stop-Clinic for Assessment of Risk for chromosomal abnormalities in the Czech Republic. To prove its effectiveness and make it part of our daily practice. Modify and/or withdraw the existing current practice.

[Substitution of prenatal karyotyping with targeted QFPCR--cytogenetic residual risk assessment].

Objective: Molecular techniques focused on detection of common aneuploidies--FISH and QFPCR--provide a quick result in prenatal diagnosis. There is a trend to apply these rapid tests as 'stand-alone' tests which would lead to substantial economical savings. The purpose of the retrospective study is to determine the frequency of chromosomal aberrations (CA) which would be missed by this tool in particular indication groups--residual cytogenetic risk.

[Analysis of cell free fetal DNA fragmentation rate in pregnant women during the course of gravidit].

Aim Of Study: To assess cell free fetal DNA (cffDNA) fragmentation rate in pregnant women during the course of gravidity.

Study Design: QF PCR efficiency in cffDNA and quantitative analyses in particular cffDNA molecular size fractions.

Setting: The study was performed at Department of Medical Genetics and Fetal Medicine, University Hospital Olomouc.

Hemolytic disease in the newborn - history and prevention in the world and the Czech Republic.

Background: Hemolytic disease in the newborn with its typical signs and poor prognosis has been known for centuries. Historically it can be divided into three pathological states which are fetal hydrops (hydrops fetus universalis), neonatal jaundice (icterus neonati gravis familiaris) and fetal anemia (anemia neonati). Almost 70 reports with quite accurate descriptions were found up to the end of 19th century.