As with much else in healthcare, change is the driver of clinical lab technologies today. Rapid advances in genetics, especially the game-changing promise of biomarkers and personalized medicine, have dramatically extended the traditional spectrum of clinical lab technologies. A snapshot of the specialties within a modern clinical lab and the key drivers of change within […]
Non-invasive prenatal testing (NIPT) based on cell free fetal DNA (cffDNA) circulating in maternal blood is moving rapidly forward. With promises of improved safety, earlier detection and easier access to tests, NIPT has the potential to bring many positive benefits to prenatal care. Here we discuss the recent developments in this area. by Dr Melissa […]
Prenatal screening and diagnosis is important for early detection and therapy of neonates affected by genetic disorders. Chip-based capillary electrophoresis can analyse small sample volumes quickly and easily. This technique may be used for prenatal as well as pre-implantation genetic diagnosis, where sample volumes are tiny and difficult to obtain. It could resolve many difficulties […]
Maternal screening is offered to all expectant women during the first or second trimester of pregnancy. The purpose of this screening is to test for fetal abnormalities including chromosomal abnormalities such as Down’s syndrome, Trisomy 18 and neural tube defects such as spina bifida. Testing is performed by taking a blood sample from the patient’s […]
by Harold Chen. Pub. by Springer 2012, 2472pp., €519. In 3 volumes, not available separately. ISBN 978-1-4614-1036-2. With almost 40 years of experience in clinical genetics, Dr Chen has shared his knowledge of almost 250 genetic disorders, malformations and malfunction syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, […]
Iron deficiency and anemia are common side-effects of inflammatory bowel disease. Analysis of a number of components of the iron-metabolism pathway can aid a differential diagnosis. by Professor Jürgen Stein Iron deficiency occurs in about 60–80% of patients with inflammatory bowel disease (IBD), and anemia manifests in approximately one-third of patients. Anemia is thus by […]
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