medizinische genetik

https://link.springer.com/journal/11825

List of Papers (Total 125)

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

Several externally blinded validation and implementation studies in the last 9 years have shown that it is now possible, through analysis of cell-free (cf) DNA in maternal blood, to effectively detect a high proportion of fetuses affected by trisomies 21, 18, and 13 at a much lower false-positive rate (FPR) than all other existing screening methods. This article is aimed at...

Epidermolysis bullosa hereditaria

Inherited Epidermolysis bullosa (EB) encompasses a group of heritable skin disorders characterized by skin fragility and mechanically induced blister formation. The clinical manifestations show various degrees of severity ranging from life threatening to mild. In children and adults the clinical features may be typical for the EB subtype; however, in neonates the EB subtype can...

Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg

Here we report on the results of 316 diagnostic cycles of preimplantation genetic diagnosis (PGD) at our PGD center for 149 families at high risk of transmitting a monogenic disease to their offspring. Since 2001, we have performed a total of 251 polar body diagnosis (PBD) cycles. After obtaining the license as PGD center in June 2015, we subsequently performed 65 trophectoderm...

Personwürde in der pränatalen Ethik

The background to this article comprises the bioethical debates of recent years, in which questions on the type and extent of prenatal protection of human dignity were the subject of controversy. The aim of this article is to outline the specifically theological-ethical understanding of human dignity and its constitutionally established sanctity within the framework of Catholic...

Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt?

In genetic diagnostics, the path goes from single-gene testing to gene-panel analyses, especially for rare genetic diseases. In July 2016, an amendment to the EBM (Einheitlicher Bewertungsmaßstab, Regulations on Fees for Statutory Health Insurance) introduced the possibility of performing genetic analyses using next-generation sequencing (NGS) on patients with rare diseases...

Nicht invasive Pränataldiagnostik mittels molekulargenetischer Tests (NIPT) zur Erkennung der Trisomien 13, 18 und 21

BackgroundNon-invasive molecular genetic prenatal tests (NIPTs) for trisomy have long been part of non-invasive prenatal diagnostics. In Germany it is currently being examined whether and for whom these tests should be paid for by statutory health insurance in the future.Objective(I) Diagnostic properties of NIPTs for the detection of trisomy 13, 18 and 21, and (II) hypothetical...

Pränataldiagnostik – klassische Analytik mittels Chorionzottenbiopsie und Amniocentese

This article describes the classical invasive methods of prenatal diagnosis and the most commonly diagnosed chromosomal aberrations by means of conventional cytogenetics. In spite of new methods, which have been dealt with in other chapters, it is emphasized that the value of these classical methods is still significant.

Long-read sequencing in human genetics

Sanger sequencing revolutionized molecular genetics 40 years ago. However, next-generation sequencing technologies became further game changers and shaped our current view on genome structure and function in health and disease. Although still at the very beginning, third-generation sequencing methods, also referred to as long-read sequencing technologies, provide exciting...

Herausforderung der Varianteninterpretation am Beispiel des Long-QT-Syndroms (LQTS)

In diagnostics, next-generation sequencing technology has made it possible to analyze all long QT syndrome (LQTS) genes in parallel. As a result, variants whose clinical significance is unclear are increasingly being detected. The situation is aggravated by the fact that apart from the three well-described main genes, KCNQ1, KCNH2, and SCN5A, whose variants are responsible for...

Die Rolle seltener Varianten bei häufigen Krankheiten

In general, common diseases have a multifactorial etiology, i.e., both genetic and non-genetic environmental factors contribute to disease onset and progression. Heritability estimates for these disorders range from moderate to relatively high. The genetic architecture of common diseases is complex and may encompass the entire allelic spectrum, including common variants with...

Neue Musterweiterbildungsordnung Humangenetik

After a long-lasting process, the Executive Board of the German Medical Association unanimously voted for the amendment to the new model regulations for specialist training (MWBO) on November 15th 2018. A major innovation is the competence-based training—the medical skills shall be determined by the actual acquired content, competences and skills rather than by the time spent in...

Next-Generation-Sequencing in der Epigenetik

Molecular epigenetics refers to the chemical and physical modification of DNA and chromatin. Transcription factors determine the chromatin states of their target genes, and chromatin states affect the binding of transcription factors to DNA. Chromatin states are characterized by specific patterns of DNA methylation, histone modification, the spacing of nucleosomes and the 3‑D...

Molecular diagnostics of Mendelian disorders via combined DNA and RNA sequencing

The diagnostic yield in rare disorders is currently less than 50% although sequencing technologies in use are able to detect the majority of possible variants in our genome. The diagnostic gap is in part due to limitations in prioritizing and interpreting identified variants. The integration of functional data, such as transcriptomics, is emerging as a powerful complementary tool...

Chromosomes in the DNA era: Perspectives in diagnostics and research

Chromosomes were discovered more than 130 years ago. The implementation of chromosomal investigations in clinical diagnostics was fueled by determining the correct number of human chromosomes to be 46 and the development of specific banding techniques. Subsequent technical improvements in the field of genetic diagnostics, such as fluorescence in situ hybridization (FISH...

Disorders of renal NaCl transport and implications for blood pressure regulation

Hypertension is one of the major risk factors for cardiovascular disease in industrialized societies. Substantial progress has been made in understanding its epidemiology, its pathophysiology, and its associated risks such as coronary artery disease, stroke, and heart failure. Because there is consensus that the abnormal retention of sodium by the kidney is a major important...