Prenatal Diagnosis 1st Edition by Susanne Mergenthaler Gatfield, Wolfgang Holzgreve, Sinuhe Hahn, Sinuhe Hahn, Laird Jackson 9781588298034 1588298035

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ISBN 10: 1588298035
ISBN 13: 9781588298034
Author: Susanne Mergenthaler Gatfield, Wolfgang Holzgreve, Sinuhe Hahn, Sinuhe Hahn, Laird Jackson 

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 syndrome. A further focus is the development of noninvasive, and hence, risk-free alternatives for prenatal diagnosis that no longer rely on invasive procedures such as amniocentesis or chorionic villus sampling. The most successful of these approaches is the analysis of placentally derived cell-free DNA in maternal blood.

Prenatal Diagnosis 1st Table of contents:

Invasive Approaches

Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

Characterization of Prenatally Assessed De Novo Small Supernumerary Marker Chromosomes 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 PCR for the Detection of Fetal Aneuploidies

MLPA for Prenatal Diagnosis of Commonly Occurring Aneuploidies

MALDI-TOF Mass Spectrometry for Trisomy Detection

Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes

Rapid Detection 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 ?-Thalassemia

Noninvasive Approaches

RHD Genotyping from Maternal Plasma: Guidelines and Technical Challenges

Isolation of Cell-Free DNA from Maternal Plasma Using Manual and Automated Systems

Fetal DNA: Strategies for Optimal Recovery

Quantification of Circulatory Fetal DNA in the Plasma of Pregnant Women

Detection and Quantification of Fetal DNA in Maternal Plasma by Using LightCycler Technology

Size Fractionation of Cell-Free DNA in Maternal Plasma and Its Application in Noninvasive Detection of Fetal Single Gene Point Mutations

MALDI-TOF Mass Spectrometry for Analyzing Cell-Free Fetal DNA in Maternal Plasma

Isolation of Cell-Free RNA from Maternal Plasma

A Microarray Approach for Systematic Identification of Placental-Derived RNA Markers in Maternal Plasma

A Novel Method to Identify Syncytiotrophoblast-Derived RNA Products Representative of Trisomy 21 Placental RNA in Maternal Plasma

Method for Extraction of High-Quantity and -Quality Cell-Free DNA from Amniotic Fluid

Detection of New Screening Markers for Fetal Aneuploidies in Maternal Plasma: A Proteomic Approach

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Prenatal Diagnosis,Susanne Mergenthaler Gatfield,Wolfgang Holzgreve,Sinuhe Hahn,Sinuhe Hahn,Laird Jackson