Biomedical subjects
Publications and source records attributed to B Tutschek.
In most areas of medicine electronic documentation today is mandatory. Biometric or longitudinal data and data collected according to quality assessment programs can often only be collected in computer databases. Two different technical realisations in commercial software products for fetomaternal medicine are compared.
The safeguarding of quality has reached an essential position in medical area. The creation of corresponding concepts with definition of tasks for quality assessment is one of the most important challenges for public health organizations and politicians. The still established projects in gynecology and obstetrics in Germany now carried out that the conscience for the necessity of quality safeguarding is in high gear.A summary of the quality safeguarding projects and tools is given.
Successful isolation and genetic testing of fetal cells obtained from maternal blood could eliminate the risks associated with invasive prenatal testing. We used clonal in-vitro expansion of fetal haemopoietic cells and micromanipulation and fluorescent PCR of single colonies to obtain pure fetal colonies from peripheral blood of 12 healthy pregnant women. Of 2966 randomly selected colonies, 42 contained fetal and other cells and, for four women, two to four colonies each contained purely fetal cells. Detection of fetal cells has been hampered by rarity in maternal blood, but with our approach many cells are available for analysis.
Main reason for acceptance and distribution of the internet is the possibility to present information in a reasonable and contemporary way. Therefore the internet changed the way of decision making techniques in medicine. Two different information platforms for gynecological and reproductive topics have been created. The German Register for In-Vitro-Fertilization (DIR) collect data for quality assessment in reproductive medicine. The Work Group for Information Technologies in Gynecology and Obstetrics (AIG) will establish methods and new techniques to support treatments and science.
Guidelines are well established in modern medicine as a tool of quality assurance. New developments in Information Technology (IT) alters strategies in communication, and influences the publication of important notes or research findings. Acceptance and efficiency of guidelines depends on promptness of publication. Using the internet to publish guidelines does not only improve success of transferal but also changes interaction between physicians and patients.
Digital data processing and storage are advancing in many medical settings. Some ultrasound machines process, store and provide images digitally. For many obstetrical and gynecological ultrasound units electronic filing and reporting are essential parts of their documentation. However, patient data are often entered redundantly into the different systems (admission and billing, encoding of diagnoses, medical reports etc.). Bi-directional exchange of textual data is the first step towards successful integration. Additionally, affordable central digital video storage from different sources within a department or hospital will soon become available.
Rapid development and innovative research in medical computer science influences physicians work. Not only new hardware but also network implementation changed the way of decision making techniques in medicine. The main reason for acceptance and distribution of the internet is the possibility to present information in a reasonable and contemporary way. A self-labeling of medical information by web authors and systematic critical appraisal of health-related internet information by third parties may help to filter harmful health information and to positively identify and select high quality information. The German Work Group for Information Technologies in Gynecology and Obstetrics (AIG) informs physicians about health care issues related to computer science.
OBJECTIVE: This study was designed to evaluate accuracy and clinical usefulness of fetal RhD genotyping with fluorescent duplex polymerase chain reaction. STUDY DESIGN: Two RhD-specific gene fragments (exon 10 in polymerase chain reaction 1 and exon 7 in polymerase chain reaction 2) were amplified in samples from 213 fetuses. RESULTS: Amplification failed in 0.9% of the specimens, and equivocal results were found in 1.4% of the specimens. Of the analyses, 6.6% had to be repeated. The concordance of genotyping and serotyping was 99.0% for each polymerase chain reaction. False-positive results were noted in 4 fetuses. Concordant findings from both assays indicated the correct serotype for all fetuses. In 44 alloimmunized pregnancies, further invasive procedures were avoided for 5 of the 6 genotypically RhD-negative fetuses. Only two of 38 RhD-positive fetuses had a hemoglobin level <8 g/dL at first fetal blood sampling. CONCLUSIONS: Fetal genotyping at distinct regions of the RhD gene is reliable and improves the care management of sensitized women.
Explore the source record for details and available documents.
We have refined polymerase chain reaction (PCR) assays for the detection of sickle cell anaemia, the delta F 508 deletion causing cystic fibrosis, and the IVS1-110 mutation leading to beta thalassaemia, allowing them to be successfully performed upon single cells using fluorescent primers. We have also assessed the possibility of detecting aneuploidies of chromosomes 13, 18 and 21 using a quantitative fluorescent polymerase chain reaction (QF-PCR) with primers flanking polymorphic short tandem repeat (STR) markers. Trisomies were readily diagnosed by the detection of tri-allelic patterns. However some heterozygote normal and trisomic diallelic patterns did not produce the expected ratios of amplified PCR products due to preferential DNA sequence amplification. Total allelic drop out (ADO) did not occur with any of the cells tested. Multiplex QF-PCR assays can be performed on a single cell in under 6 h and simultaneously provide diagnosis of single gene defects, sex determination and an indication of selected chromosome aneuploidy.
We present a case of an intact interstitial pregnancy at 6 postmenstrual weeks and 4 days, which was successfully treated by combined local and systemic methotrexate administration. The embryonic cardiac activity stopped within 1 min after uneventful ultrasound-guided puncture and methotrexate instillation of the chorionic sac. While the beta-hCG serum values returned to normal 59 days after local, and 52 days after systemic treatment, the echogenic lesion has reduced in size by 50%, but is still sonographically detectable 7 months after the procedure. This report shows that medical treatment of interstitial pregnancy may be an effective alternative to the surgical approach.
Osteoporosis is a systemic bone disease with a decrease in bone structure and increased risk of fractures. The primary diagnosis of osteoporosis and the surveillance of therapeutic interventions is based either on laboratory or on radiological diagnosis. In a pilot study encompassing 274 women the routine use of ultrasound osteodensitometry (QUS, Lunar Achilles) of the os calcaneus was validated and tested. Velocity of the ultrasound signal (SOS) and frequency attenuation (BUA) were measured and the proprietary index stiffness calculated. In 47 women ultrasound data were compared with the DXA measurements. Results from both methods correlated significantly. Postmenopausal patients with HRT had significant better QUS values than those without HRT. Results from both diagnostic methods (QUS versus DXA) correlated significantly. Women with HRT showed significantly increased bone measurements compared to those without HRT. This correlated with an increase in bone metabolism. QUS of the os calcaneus was easy to perform, without time spent or inconvenience for and with high acceptance by the volunteers/patients. The conformity of the results of the different methods (DXA, QUS) may--if the follow up study confirms these results--lead to a routine use of QUS for screening and therapy monitoring.
OBJECTIVE: 1. To establish the reliability of fetal amniocyte Rhesus D (RhD) genotyping using fluorescence duplex polymerase chain reaction (PCR) and 2. to assess the potential clinical impact on management of alloimmunised pregnancies. DESIGN: Multicentre observational study. SETTING: Four departments of obstetrics and gynaecology in Germany. METHODS: Fourty-four amniotic fluid samples were obtained by amniocentesis from a retrospective group of 27 RhD alloimmunised pregnancies and 15 samples from 14 women treated prospectively. Two RhD gene specific fragments (exon 7 and 10) were amplified using two separate fluorescence duplex PCR assays, and laser detected in an automated DNA sequence analyser. RESULTS: Amplification of the Rh gene sequences was successful in all samples. PCR at the two RhD gene regions resulted in complete concordance. Genotyping correctly predicted the RhD status of all fetuses serotyped (n = 41). After intrauterine transfusions, PCR identified the RhD type of two fetuses more accurately than serotyping. Earlier knowledge of a negative RhD status would have rendered unnecessary 12 amniocenteses in four fetuses of the retrospective study group, and prevented further invasive testing in one fetus treated prospectively. In the latter group, women with a positive fetal RhD genotype underwent intensive prenatal care including serial invasive monitoring and intrauterine treatment. CONCLUSIONS: Fetal RhD genotyping of amniocytes is a reliable technique with the potential to improve routine management of alloimmunised pregnant women.
In the course of an investigation aimed at detecting the presence of trophoblastic cells in the endocervical canal of pregnant women between 7 and 17 weeks of gestation, several cases of aneuploidies were observed using a fluorescent in situ hybridisation (FISH) assay. The cases include fetal chromosome 21 and 18 trisomies, triploidy and sex chromosome aneuploidies. The results were confirmed by testing placental tissues obtained after termination of pregnancy (TOP). In two of these cases, clumps of cells with the morphology of trophoblasts were isolated from the transcervical cell (TCC) samples using micromanipulation. FISH and fluorescent polymerase chain reactions (PCR), performed on these clumps, showed them to be exclusively of fetal origin. These results show that prenatal diagnoses of major aneuploidies can be performed by FISH using whole TCC samples, or on isolated clumps of cells by FISH and PCR assays.
A single copy Y-chromosome DNA sequence was amplified using the polymerase chain reaction (PCR) from the peripheral blood of 30 women who had achieved a pregnancy through an in vitro fertilization (IVF) programme. The time of conception was known precisely and was confirmed by serial ultrasound scans. Conceptions were dated as the number of weeks after fertilization plus 2, to give a time equivalent to the obstetric menstrual dating of the pregnancy (LMP). Y-chromosome-specific DNA was detected in all pregnancies with a male fetus (18/30). The earliest detection was at 4 weeks and 5 days, and the latest at 7 weeks and 1 day. Y-chromosome-specific sequences were no longer detected in any of the male pregnancies 8 weeks after delivery. No Y-chromosome sequences were detected in any of the pregnancies where only female babies were delivered. This demonstrates that fetal DNA appears in the maternal circulation early in the first trimester, that it can be identified in all pregnancies tested by 7 weeks, that it continues to be present throughout pregnancy, and that it has been cleared from the maternal circulation 2 months after parturition. Early non-invasive prenatal diagnosis for aneuploidies and inherited disorders will be possible in all pregnancies if fetal cells can be isolated free from maternal contamination (or identified accurately in the presence of maternal cells) without problems of contamination from previous pregnancies.
Before termination of pregnancy, four techniques for retrieving fetal cells transcervically were investigated: uterine lavage, endocervical lavage, cytobrush and mucus aspiration. The yield of fetal cells in these samples was studied and found to be somewhat better after uterine lavage. A preliminary assessment of the safety of mucus aspiration was carried out before transcervical chorionic villus sampling (CVS) in continuing pregnancies. No difference in outcome to a control group having only CVS was found.
Transcervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y-derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21-derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.
Transcervical cell (TCC) samples have been shown to contain fetal cells amenable to molecular analysis. However, the presence of 'contaminating' maternal cells limits their use for prenatal diagnoses. In this report we show that clumps of fetal cells can be isolated from transcervical samples by micromanipulation and tested by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Out of 129 clumps, isolated from mucus aspirates and transcervical lavages from 29 patients, 29 clumps from 11 patients were found to be exclusively of fetal origin as judged by the detection of chromosome 21-specific polymorphic DNA markers and Y-derived DNA sequences by PCR and FISH. One case of a male triploid fetus, diagnosed by the analysis of TCC samples obtained by mucus aspiration and lavage, was confirmed by testing clumps of cells isolated by micromanipulation.