| 书目名称 | Prenatal Diagnosis | | 编辑 | Sinuhe Hahn,Laird G. Jackson | | 视频video | | | 概述 | Contains cutting edge techniques which greatly expand the depth and scope of classical invasive prenatal diagnosis.Totally unique focus on novel non-invasive approaches for prenatal diagnosis.Also of | | 丛书名称 | Methods in Molecular Biology | | 图书封面 |  | | 描述 | Molecular biology has transformed prenatal diagnosis because it permits an accurate diagnosis to be made from very small quantities of fetal material, even single cells. Although the latter permits the analysis of preimplantation embryos and, perhaps in the future, the analysis of fetal cells enriched from maternal blood, a major current focus is to facilitate rapid, cost-effective diagnoses. In this manner, the use of fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR)-based approaches on uncultured amniocytes or chorionic villi already permits a rapid assessment of the most common fetal aneuploidies (chromosomes 13, 18, 21, X, and Y) to be obtained within 24 h, thereby obviating the need for a 2-week culture period previously required for a traditional karyotype. Although the accuracy of karyotypic analysis is greatly enhanced by methodologies such as spectral karyotyping (SKY) or comp- ative genomic hybridization (CGH), the advent of high-density nucleotide arrays (chips) facilitates rapid assessment of the fetal genotype for a large number of mutations of frequent Mendelian disorders, e. g. , cystic fibrosis, the hemoglobinopathies, and Tay-Sachs syndro | | 出版日期 | Book 2008 | | 关键词 | Cell free fetal DNA; Chromosom; DNA; FISH; Fetal aneuploidies; Fluorescence in situ hybridization (FISH); | | 版次 | 1 | | doi | https://doi.org/10.1007/978-1-59745-066-9 | | isbn_softcover | 978-1-61737-787-7 | | isbn_ebook | 978-1-59745-066-9Series ISSN 1064-3745 Series E-ISSN 1940-6029 | | issn_series | 1064-3745 | | copyright | Humana Press 2008 |
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发表于 2025-3-21 18:07:33
