原 著：《Prenatal Diagnosis》译 著：《产前诊断》

This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.
Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.

1. Traditional Prenatal Diagnosis: Past to Present

2. Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction 

3. Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions 

4. Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders 

5. Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays 

6. Aneuploidy Screening using Next Generation Sequencing 

7. DNA Extraction from Various Types of Prenatal Specimens 

8. Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR) 

9. Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH) 

10. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR 

11. Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies 

12. Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling 

13. Prenatal Diagnosis Using Chromosomal SNP Microarrays 

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

15. Prenatal Diagnosis of Cystic Fibrosis 

16. Prenatal Diagnosis of Tay-Sachs Disease 

17. Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries 

18. Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities 

19. Isolation and Characterization of Amniotic Fluid-Derived Extracellular Vesicles for Biomarker Discovery 

20. Quad Screen Test, A Multiplexed Biomarker Assay for Prenatal Screening to Assess Birth Defects: The Columbia University Experience Using the Beckman Access2 Immunoassay Analyzer and Benetech PRA

21. Isolation of Cell-Free DNA from Maternal Plasma 

22. Noninvasive Detection of Fetal Aneuploidy Using Next Generation Sequencing 

23. Noninvasive Antenatal Screening for Fetal RHD in RhD Negative Women to Guide Targeted Anti-D Prophylaxis