Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 7 , ISSUE 4 ( October-December, 2013 ) > List of Articles


Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research

Wolfgang Holzgreve

Keywords : Noninvasive prenatal diagnosis,Cell-free fetal DNA,Chromosomal anomalies,Single gene disorders

Citation Information : Holzgreve W. Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research. Donald School J Ultrasound Obstet Gynecol 2013; 7 (4):440-442.

DOI: 10.5005/jp-journals-10009-1315

License: CC BY-NC 4.0

Published Online: 01-06-2014

Copyright Statement:  Copyright © 2013; The Author(s).


How to cite this article

Holzgreve W. Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research. Donald School J Ultrasound Obstet Gynecol 2013;7(4):440-442.

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  1. Maternal age-specific rates for chromosomal aberrations and factors influencing them: Report of a collaborative European study on 52 965 amniocenteses. Prenant Diagn 1984 Spring;4 Spec No:5-44.
  2. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol 2001 Feb;184(3):414-419.
  3. Fetal cells and cell free DNA in maternal blood: new insights into pre-eclampsia. Hurn Reprod Update 2002 Nov-Dec;8(6):501-508.
  4. Genetic communication between fetus and mother: short-and long-term consequences. Am J Obstet Gynecol 2007 Apr;196(4):372-381.
  5. Intact fetal cells in maternal plasma. Lancet 2003 Jan;361(9352):139-140.
  6. Presence of fetal DNA in maternal plasma and serum. Lancet 1997 Aug;350(9076):485-487.
  7. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on maternal DNA in maternal plasma. PNAS 2008;105(50):19920-19925.
  8. Prenatal identification of fetal genetic traits. Lancet 2001 Jan;357(9252):310-311.
  9. Recent developments in the detection of fetal single gene differences in maternal plasma and the role of size fractionation. Ann NY Acad Sci 2006 Dec; 1092:285-292.
  10. Maldi-TOF-Mass spectrometry for trisomy detection. Methods Mol Biol 2008;444:123-132.
  11. Spectral karyotyping (SKY) applications in prenatal diagnostics. Methods Mol Biol 2008;444:3-26.
  12. Chinese bioscience: the sequence factory. Nature 2010 Mar;464(7285):22-24.
  13. Noninvasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
  14. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011 Mar;201(3):205.e1-11.
  15. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Am J Obstet Gynecol 2012 May;119(5):890-901.
  16. Chromosome-selective sequencing of maternal plasma cell-free DNA for first trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012 Apr;206(4):322.e1-5.
  17. DNA sequencing of maternal plasma to detect Down's syndrome: an international clinical validation. Genet Med 2011 Nov;13(11):913-920.
  18. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An International Collaborative Study. Genet Med 2012 Mar;14(3):296-305.
  19. Pregnant women's assessment and level of knowledge of prenatal counseling. Ultraschall Med 2009 Apr;30(2):157-163.
  20. Noninvasive prenatal diagnosis in 2020. Prenat Diagn 2010 Jul;30(7):702-703.
  21. Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol 2012 Apr;206(4):269-275.
  22. Noninvasive prenatal measurement of the fetal genome. Nature 2012 Jul;487(7407):320-326.
  23. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med 2012 Jul;18(7)1041-1051.
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