Search Results

There are 1771 results for: content related to: Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

  1. A cost-effectiveness analysis of cell free DNA as a replacement for serum screening for Down syndrome

    Prenatal Diagnosis

    Volume 35, Issue 5, May 2015, Pages: 440–446, Brandon S. Walker, Brian R. Jackson, Danielle LaGrave, Edward R. Ashwood and Robert L. Schmidt

    Article first published online : 3 NOV 2014, DOI: 10.1002/pd.4511

  2. Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 636–642, Howard Cuckle, Peter Benn and Eugene Pergament

    Article first published online : 9 JUN 2013, DOI: 10.1002/pd.4157

  3. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

    Prenatal Diagnosis

    Volume 35, Issue 8, August 2015, Pages: 725–734, Peter Benn, Antoni Borrell, Rossa W. K. Chiu, Howard Cuckle, Lorraine Dugoff, Brigitte Faas, Susan Gross, Tianhua Huang, Joann Johnson, Ron Maymon, Mary Norton, Anthony Odibo, Peter Schielen, Kevin Spencer, Dave Wright and Yuval Yaron

    Article first published online : 4 JUN 2015, DOI: 10.1002/pd.4608

  4. You have free access to this content
    Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 662–666, Eric Wang, Annette Batey, Craig Struble, Thomas Musci, Ken Song and Arnold Oliphant

    Article first published online : 9 MAY 2013, DOI: 10.1002/pd.4119

  5. Cell-free DNA screening and sex chromosome aneuploidies

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 980–985, Michael T. Mennuti, Suchitra Chandrasekaran, Nahla Khalek and Lorraine Dugoff

    Article first published online : 9 SEP 2015, DOI: 10.1002/pd.4639

  6. You have free access to this content
    First-trimester Down syndrome screening using additional serum markers with and without nuchal translucency and cell-free DNA

    Prenatal Diagnosis

    Volume 33, Issue 11, November 2013, Pages: 1044–1049, J Johnson, M Pastuck, A Metcalfe, G Connors, R Krause, D Wilson and H Cuckle

    Article first published online : 6 AUG 2013, DOI: 10.1002/pd.4194

  7. First trimester screening for Down syndrome using nuchal translucency, maternal serum pregnancy-associated plasma protein A, free-β human chorionic gonadotrophin, placental growth factor, and α-fetoprotein

    Prenatal Diagnosis

    Volume 35, Issue 7, July 2015, Pages: 709–716, Tianhua Huang, Alan Dennis, Wendy S. Meschino, Shamim Rashid, Ellen Mak-Tam and Howard Cuckle

    Article first published online : 19 MAY 2015, DOI: 10.1002/pd.4597

  8. The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 994–998, Francesca Romana Grati, Komal Bajaj, Francesca Malvestiti, Cristina Agrati, Beatrice Grimi, Barbara Malvestiti, Eva Pompilii, Federico Maggi, Susan Gross, Giuseppe Simoni and Jose Carlos P. Ferreira

    Article first published online : 11 SEP 2015, DOI: 10.1002/pd.4659

  9. RASSF1A in maternal plasma as a molecular marker of preeclampsia

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 682–687, Nikolas Papantoniou, Vassilis Bagiokos, Kostantinos Agiannitopoulos, Aggeliki Kolialexi, Aspasia Destouni, Georgia Tounta, Emmanuel Kanavakis, Aris Antsaklis and Ariadni Mavrou

    Article first published online : 22 MAR 2013, DOI: 10.1002/pd.4093

  10. You have free access to this content
    Noninvasive fetal genome sequencing: a primer

    Prenatal Diagnosis

    Volume 33, Issue 6, June 2013, Pages: 547–554, Matthew W. Snyder, LaVone E. Simmons, Jacob O. Kitzman, Donna A. Santillan, Mark K. Santillan, Hilary S. Gammill and Jay Shendure

    Article first published online : 1 APR 2013, DOI: 10.1002/pd.4097

  11. Cell-free fetal DNA in maternal circulation after chorionic villous sampling

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 695–699, Mariarosaria Di Tommaso, Viola Seravalli, Francesca Salvianti, Cecilia Bussani, Lucia Pasquini, Adalgisa Cordisco and Pamela Pinzani

    Article first published online : 31 MAY 2013, DOI: 10.1002/pd.4155

  12. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 643–649, Carole Samango-Sprouse, Milena Banjevic, Allison Ryan, Styrmir Sigurjonsson, Bernhard Zimmermann, Matthew Hill, Megan P. Hall, Margaret Westemeyer, Jennifer Saucier, Zachary Demko and Matthew Rabinowitz

    Article first published online : 20 JUN 2013, DOI: 10.1002/pd.4159

  13. What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

    Prenatal Diagnosis

    Emily S. Reiff, Sarah E. Little, Lori Dobson, Louise Wilkins-Haug and Bryann Bromley

    Article first published online : 5 FEB 2016, DOI: 10.1002/pd.4774

  14. You have full text access to this OnlineOpen article
    Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

    Prenatal Diagnosis

    Volume 35, Issue 12, December 2015, Pages: 1243–1246, Renee Stokowski, Eric Wang, Karen White, Annette Batey, Bo. Jacobsson, Herb Brar, Madhumitha Balanarasimha, Desiree Hollemon, Andrew Sparks, Kypros Nicolaides and Thomas J. Musci

    Article first published online : 25 OCT 2015, DOI: 10.1002/pd.4686

  15. You have full text access to this OnlineOpen article
    Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

    Prenatal Diagnosis

    Volume 35, Issue 7, July 2015, Pages: 656–662, Lyn S. Chitty, Sarah Mason, Angela N. Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley and Lucy A. Jenkins

    Article first published online : 26 MAY 2015, DOI: 10.1002/pd.4583

  16. Cell-free DNA testing in the maternal blood in high-risk pregnancies after first-trimester combined screening

    Prenatal Diagnosis

    Nicola Persico, Simona Boito, Benedetta Ischia, Adalgisa Cordisco, Valentina De Robertis, Isabella Fabietti, Enrico Periti, Paolo Volpe, Luigi Fedele and Georgios Rembouskos

    Article first published online : 9 FEB 2016, DOI: 10.1002/pd.4773

  17. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 622–629, Peter Benn, Antoni Borell, Rossa Chiu, Howard Cuckle, Lorraine Dugoff, Brigitte Faas, Susan Gross, Joann Johnson, Ron Maymon, Mary Norton, Anthony Odibo, Peter Schielen, Kevin Spencer, Tianhua Huang, Dave Wright and Yuval Yaron

    Article first published online : 21 MAY 2013, DOI: 10.1002/pd.4139

  18. The cell-free fetal DNA fraction in maternal blood decreases after physical activity

    Prenatal Diagnosis

    Volume 34, Issue 4, April 2014, Pages: 341–344, Jacob Mørup Schlütter, Lotte Hatt, Cathrine Bach, Ida Kirkegaard, Steen Kølvraa and Niels Uldbjerg

    Article first published online : 4 FEB 2014, DOI: 10.1002/pd.4306

  19. You have full text access to this OnlineOpen article
    Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

    Prenatal Diagnosis

    Volume 34, Issue 5, May 2014, Pages: 496–499, J. Hooks, A. J. Wolfberg, E. T. Wang, C. A. Struble, J. Zahn, K. Juneau, M. Mohseni, S. Huang, P. Bogard, K. Song, A. Oliphant and T. J. Musci

    Article first published online : 20 FEB 2014, DOI: 10.1002/pd.4338

  20. You have free access to this content
    The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

    Prenatal Diagnosis

    Volume 33, Issue 6, June 2013, Pages: 555–562, Nicholas Lench, Angela Barrett, Sarah Fielding, Fiona McKay, Melissa Hill, Lucy Jenkins, Helen White and Lyn S. Chitty

    Article first published online : 17 MAY 2013, DOI: 10.1002/pd.4124