Prenatal Diagnosis

1. Front Matter

   Pages i-xiv

   PDF

2. Invasive Approaches

   1. Front Matter

      Pages 1-1

      PDF

   2. Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

      • Susanne Mergenthaler-Gatfield, Wolfgang Holzgreve, Sinuhe Hahn

      Pages 3-26

   3. Characterization of Prenatally Assessed De Novo Small Supernumerary Marker Chromosomes by Molecular Cytogenetics

      • Thomas Liehr

      Pages 27-38

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

      • Anja Weise, Thomas Liehr

      Pages 39-48

   5. Application of Multi-PRINS to Simultaneously Identify Chromosomes 18, X, and Y in Prenatal Diagnosis

      • Macoura Gadji, Kada Krabchi, Ju Yan, Règen Drouin

      Pages 49-58

   6. Prenatal Diagnosis Using Array CGH

      • Catherine D. Kashork, Aaron Theisen, Lisa G. Shaffer

      Pages 59-70

   7. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR

      • Kathy Mann, Erwin Petek, Barbara Pertl

      Pages 71-94

   8. Real-Time Quantitative PCR for the Detection of Fetal Aneuploidies

      • Bernhard G. Zimmermann, Lech Dudarewicz

      Pages 95-109

   9. MLPA for Prenatal Diagnosis of Commonly Occurring Aneuploidies

      • Jan Schouten, Robert-Jan Galjaard

      Pages 111-122

   10. MALDI-TOF Mass Spectrometry for Trisomy Detection

       • Dorothy J. Huang, Matthew R. Nelson, Wolfgang Holzgreve

       Pages 123-132

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

       • Joanne Traeger-Synodinos, Christina Vrettou, Emmanuel Kanavakis

       Pages 133-145

   12. Rapid Detection of Fetal Mendalian Disorders: Tay-Sachs Disease

       • Esther Guetta, Leah Peleg

       Pages 147-159

   13. Arrayed Primer Extension Reaction for Genotyping on Oligonucleotide Microarray

       • Janne Pullat, Andres Metspalu

       Pages 161-167

   14. A Fast Microelectronic Array for Screening and Prenatal Diagnosis of β-Thalassemia

       • Barbara Foglieni, Silvia Galbiati, Maurizio Ferrari, Laura Cremonesi

       Pages 169-182

3. Noninvasive Approaches

   1. Front Matter

      Pages 184-184

      PDF

   2. RHD Genotyping from Maternal Plasma: Guidelines and Technical Challenges

      • Neil D. Avent

      Pages 185-201

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

      • Dorothy J. Huang, Susanne Mergenthaler-Gatfield, Sinuhe Hahn, Wolfgang Holzgreve, Xiao Yan Zhong

      Pages 203-208

   4. Fetal DNA: Strategies for Optimal Recovery

      • Tobias J. Legler, Klaus-Hinrich Heermann, Zhong Liu, Aicha Ait Soussan, C. Ellen van der Schoot

      Pages 209-218

   5. Quantification of Circulatory Fetal DNA in the Plasma of Pregnant Women

      • Bernhard G. Zimmermann, Deborah G. Maddocks, Neil D. Avent

      Pages 219-229

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.

• Cell free fetal DNA
• Chromosom
• DNA
• FISH
• Fetal aneuploidies
• Fluorescence in situ hybridization (FISH)
• Fluoreszenz in situ-Hybridisierung
• High density nucleotide arrays (CHIPS)
• Microarray
• PCR
• PCR-based approaches
• Quantitative PCR
• genetics
• hybridization
• molecular biology

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)

• Laboratory for Prenatal Medicine and Gynecological Oncology, Department of Biomedicine, University Womens’s Hospital, Basel

  Sinuhe Hahn

• Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia

  Laird G. Jackson

Policies and ethics