With molecular biology now allowing greater accuracy in prenatal diagnosis given amounts of fetal material as small as single cells, a major current focus has grown in the development of rapid, cost-effective diagnoses. In Prenatal Diagnosis, top experts provide cutting edge applications for the rapid assessment of fetal aneuploidies and Mendelian disorders on fetal material gained by invasive approaches, as well as procedures being validated for routine, non-invasive clinical analysis of cell free fetal DNA. Following the Methods in Molecular Biology™ series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls. Thorough and state of the art, Prenatal Diagnosis is an ideal volume for researchers and molecular biologists invested in ever-growing field of prenatal medicine. Contains cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis Totally uniquefocus on novel non-invasive approaches for prenatal diagnosis Also of use to cancer researchers since chromosomal rearrangments are important, as is the ability to examine small amounts of material (single cells) or cell-free nucleicacids INDICE: From the contents Spectral Karyotyping (SKY): Applications in prenatal diagnostics.- Characterization of prenatally assessed de novo small supernumerary marker chromosomes (sSMC) by molecular cytogenetics.- Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH).- Application of multi-PRINS to simultaneously identify chromosomes 18, X and Y in prenatal diagnosis.- Prenatal diagnosis using array CGH.- Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR.- Real-time quantitative PCRfor the detection of fetal aneuploidies.- MLPA for prenatal diagnosis of common occurring aneuploidies.- MALDI-TOF mass spectrometry for trisomy detection.- Rapid detection of fetal mendelian disorders: Thalassemia and sickle cell syndromes.- Rapid detection of of fetal mendelian disorders: Tay-Sachs disease.-Arrayed primer extension reaction for genotyping on oligonucleotide microarray.- A fast microelectronic array for screening and prenatal diagnosis of beta-thalasemia.
- ISBN: 978-1-58829-803-4
- Editorial: Humana
- Encuadernacion: Cartoné
- Páginas: 440
- Fecha Publicación: 01/06/2008
- Nº Volúmenes: 1
- Idioma: Inglés