Prenatal Diagnosis

With molecular biology now allowing greater accuracy in prenatal diagnosis given amounts of fetal material as small as single cells, a major current focus has grown in the development of rapid, cost-effective diagnoses. In Prenatal Diagnosis, top experts provide cutting edge applications for the rapid assessment of fetal aneuploidies and Mendelian disorders on fetal material gained by invasive approaches, as well as procedures being validated for routine, non-invasive clinical analysis of cell free fetal DNA. Following the Methods in Molecular Biology™ series format, the chapters feature step-by-step laboratory protocols, lists of the necessary materials, and tips on troubleshooting and avoiding known pitfalls.

Thorough and state-of-the-art, Prenatal Diagnosis is an ideal volume for researchers and molecular biologists invested in ever-growing field of prenatal medicine.

Table of contents

List of Contents

Methods in Molecular Biology: Prenatal Diagnosis: Preface

Sinuhe Hahn





Part I: Invasive approaches:

1. Spectral Karyotyping (SKY): Applications in prenatal diagnostics

Susanne Mergenthaler-Gatfield, Wolfgang Holzgreve and Sinuhe Hahn

2. Characterization of prenatally assessed de novo small supernumerary marker chromosomes (sSMC) by molecular cytogenetics

Thomas Liehr

3. Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH)

Anja Weise and Thomas Liehr

4. Application of multi-PRINS to simultaneously identify chromosomes 18, X and Y in prenatal diagnosis

Macoura Gadji, Kada Krabchi, Ju Yan, and Régen Drouin

5. Prenatal diagnosis using array CGH

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

6. Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR

Kathy Mann, Erwin Petek and Barbara Pertl

7. Real-time quantitative PCR for the detection of fetal aneuploidies

Bernhard Zimmermann and Lech Dudarewicz

8. MLPA for prenatal diagnosis of common occurring aneuploidies

Jan Schouten and Robert-Jan Galjaard

9. MALDI-TOF mass spectrometry for trisomy detection

Dorothy Huang, Matthew R. Nelson and Wolfgang Holzgreve

10. Rapid detection of fetal mendelian disorders: Thalassemia and sickle cell syndromes

Joanne Traeger-Synodinos, Christina Vrettou and Emmanuel Kanavakis

11. Rapid detection of of fetal mendelian disorders: Tay-Sachs disease

Esther Guetta and Leah Peleg

12. Arrayed primer extension reaction for genotyping on oligonucleotide microarray

Janne Pullat and Andres Metspalu

13. A fast microelectronic array for screening and prenatal diagnosis of beta-thalasemia

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



Part 2: Noninvasive approaches

14. RHD genotyping from maternal plasma: Guidelines and technical challenges

Neil D. Avent

15. Isolation of cell-free DNA from maternal plasma using manual and automated systems

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

16. Fetal DNA – strategies for optimal recovery

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

17. Quantification of circulatory fetal DNA in the plasma of pregnant women

Bernhard G. Zimmermann, Deborah G Maddocks, and Neil Avent

18. Detection and quantification of fetal DNA in maternal plasma using LightCycler Technology

Yuditiya Purwosunu, Akihiko Sekizawa, and Takashi Okai

19. Size fractionation of cell-free DNA in maternal plasma and its application in

non-invasive detection of fetal single gene point mutations

Ying Li, Wolfgang Holzgreve and Sinuhe Hahn

20. MALDI-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasma

Chunming Ding

21. Isolation of cell-free RNA from maternal plasma

Xiao Yan Zhong, Wolfgang Holzgreve, and Dorothy J. Huang

22. A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma

Nancy B. Y. Tsui and Y. M. Dennis Lo

23. A novel method to identify syncytiotrophoblast-derived RNA products

representative of trisomy 21 placental RNA in maternal plasma

Attie T. J. J. Go, Allerdien Visser, Marie van Dijk, Monique A. M. Mulders, Paul Eijk, Bauke Ylstra, Marinus A. Blankenstein, John M. G. van Vugt, and Cees B. M. Oudejans

24. Method for the extraction of high quantity and quality cell-free DNA from amniotic fluid

Olav Lapaire, Kirby L. Johnson, and Diana W. Bianchi

25. Detection of new screening markers for fetal aneuploidies in maternal plasma:

A proteomic approach

Chinnapapagari Satheesh Kumar Reddy, Wolfgang Holzgreve and Sinuhe Hahn

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