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Geisthovel F.,Centrum fur Gynakologische Endokrinologie und Reproduktionsmedizin Freiburg CERF | Ochsner A.,Centrum fur Gynakologische Endokrinologie und Reproduktionsmedizin Freiburg CERF | Wetzka B.,Centrum fur Gynakologische Endokrinologie und Reproduktionsmedizin Freiburg CERF | Klein H.-G.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz | Frommel M.,University of Kiel
Gynakologische Endokrinologie | Year: 2015

Aging of human ovaries is evolutionarily determined and includes both a quantitative decrease of the follicle-oocyte pool and a concomitant increase of aneuploid oocytes leading to an increased incidence of trisomy 21 in women ≥ 35 years of age. Ovarian aneuploidy is caused mainly by functional and structural defects of the mechanisms related to the segregation of chromosomes in meiosis I of the ageing oocyte. Non-invasive prenatal testing (NIPT), meaning the detection of fetal chromosomal material in maternal blood by DNA sequence analysis, has been established for the screening of fetal aneuploidies from the 9th week of pregnancy onwards. The NIPT is a simple somatic test which helps to avoid invasive prenatal diagnostic procedures. From the perspective of reproductive medicine there are several indications for NIPT, particularly in pregnancies resulting from artificial reproductive technologies (ART). In general NIPT is indicated in women ≥ 35 years undergoing infertility treatment (also for multiple pregnancies) or social freezing and embryo donation from a mother > 35 years. Additional indications might be pregnancies resulting from ART combined with polar body biopsy for genetic screening because of maternal age or maternal translocation or with preimplantation genetic diagnoses in cases of paternal translocation. However, so far there is no NIPT procedure specifically for detecting translocations available. A couple should receive pretherapeutic counseling on the NITP and its indications and this test should be offered to pregnant women only after genetic counseling. In Germany, a mother can freely decide to interrupt a pregnancy before the 12th week of pregnancy but thereafter needs a medical assessment. © 2015, Springer-Verlag Berlin Heidelberg.

Klein H.-G.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz | Rost I.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz | Year: 2015

Modern genetic analysis methods such as DNA arrays (gene chips) or high-throughput DNA sequencing of the next generation (Next Generation Sequencing, NGS) have once again accelerated the pace of innovation that has been powered by genome research over the past 10 years of the “post-genomic era”. The present paper introduces array and NGS methods as two important innovation driving methods and provides examples for their application in large-scale scientific projects. However, a broad application of these very powerful technologies for genetic screening for the purpose of disease prevention is currently not yet in sight. The complexity of the interaction of genes, gene products and the environment has so far exceeded all expectations, suggesting that reliable statements about the medical relevance of common genetic variants can presently only be made in a few areas such as pharmacogenetics and oncology. We also discuss ethical issues raised by genetic population screening. The aim of this paper is to provide a brief outline of the development of methods in molecular genetics to the now dominant modern technologies and present their applications in research, in the diagnosis of rare diseases, and in terms of screening approaches. © 2014, Springer-Verlag Berlin Heidelberg.

Busse B.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz | Tepedino M.-F.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz | Rupprecht W.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz | Klein H.-G.,Zentrum For Humangenetik Und Laboratoriumsdiagnostik Mvz
LaboratoriumsMedizin | Year: 2015

Hemoglobinopathies belong to the most common monogenic hereditary diseases worldwide. A particularly high prevalence is seen in the Mediterranean countries, in parts of Asia, the Middle East and West Africa. Nevertheless, due to migration hemoglobinopathies play an increasingly important role in Germany as well. Basic testing consists of blood count and hemoglobin differentiation. In addition, an iron deficiency should be excluded if necessary. Molecular genetic testing is used for the verification of hematologic findings and serves in the assessment of risk for a severe form of a hemoglobinopathy in offspring. In order to ensure efficient diagnostics, family history and previous findings of the patient should be communicated to the laboratory. This is especially crucial in the case of prenatal diagnostics. © 2015 by De Gruyter.

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