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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.
List 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 Mendalian 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 NovelMethod 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.
Summary
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.
Additional text
From the reviews:
"This comprehensive book describes invasive and noninvasive techniques for diagnosing various chromosomal and genetic disorders prenatally. … the book was written for molecular biologists and those involved in research in the area of prenatal medicine. … has a consistent style to convey the information, making each chapter readable and relatable to the previous chapters. … as a compilation of techniques and a description of the situations in prenatal medicine in which each technique might be useful, this is an excellent and detailed resource." (Gilad A. Gross, Doody’s Review Service, August, 2008)
Report
From the reviews:
"This comprehensive book describes invasive and noninvasive techniques for diagnosing various chromosomal and genetic disorders prenatally. ... the book was written for molecular biologists and those involved in research in the area of prenatal medicine. ... has a consistent style to convey the information, making each chapter readable and relatable to the previous chapters. ... as a compilation of techniques and a description of the situations in prenatal medicine in which each technique might be useful, this is an excellent and detailed resource." (Gilad A. Gross, Doody's Review Service, August, 2008)
