World's Best Scientists 2026 revealed!

D-Index & Metrics

Medicine

D-Index
96
Citations
37828
World Ranking
9582
National Ranking
4934

Research.com Recognitions

  • 2013 - Member of the National Academy of Medicine (NAM)
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Diana W. Bianchi is affiliated with the National Institutes of Health in the United States. Their research expertise lies primarily within the field of Medicine, with a focus on subfields including Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, Genetics, Obstetrics and Gynecology, and Molecular Biology.

The scientist's work addresses key topics such as prenatal screening and diagnostics, Down syndrome and intellectual disability research, fetal and pediatric neurological disorders, global maternal and child health, genomic variations and chromosomal abnormalities, maternal and perinatal health interventions, and cancer genomics and diagnostics.

Frequent publication venues for their work include:

  • Prenatal Diagnosis
  • American Journal of Obstetrics and Gynecology
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • JAMA
  • PEDIATRICS

Selected recent publications illustrate the range and scope of their research:

  • Involving Pregnant Individuals in Clinical Research on COVID-19 Vaccines, 2021, JAMA
  • Forever Connected: The Lifelong Biological Consequences of Fetomaternal and Maternofetal Microchimerism, 2020, Clinical Chemistry
  • The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research, 2024, Nature Medicine
  • Maternal mortality in the United States: research gaps, opportunities, and priorities, 2020, American Journal of Obstetrics and Gynecology
  • Down syndrome, 2020, Nature Reviews Disease Primers

Frequent co-authors collaborating with Diana W. Bianchi include:

  • Fayçal Guedj
  • Janine A. Clayton
  • Amy Turriff
  • Joshua A. Gordon
  • Eliseo J. Pérez-Stable

Throughout their career, the scientist has been recognized with membership in professional organizations including the National Academy of Medicine since 2013 and the Association of American Physicians.

Best Publications

  • Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum

    Diana W. Bianchi;Gretchen K. Zickwolf;Gary J. Weil;Shelley Sylvester

  • First-Trimester or Second-Trimester Screening, or Both, for Down???s Syndrome

    Fergal D. Malone;Jacob A. Canick;Robert H. Ball;David A. Nyberg

  • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

    Ménasché G;Pastural E;Feldmann J;Certain S

  • Impact of maternal age on obstetric outcome.

    Jane Cleary-Goldman;Fergal D. Malone;John Vidaver;Robert H. Ball

  • The conception of the ABCD study: From substance use to a broad NIH collaboration

    Nora D. Volkow;George F. Koob;Robert T. Croyle;Diana W. Bianchi

  • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

    Diana W. Bianchi;Lawrence D. Platt;James D. Goldberg;Alfred Z. Abuhamad

  • DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

    Diana W. Bianchi;R. Lamar Parker;Jeffrey Wentworth;Rajeevi Madankumar

  • Microchimerism and HLA-compatible relationships of pregnancy in scleroderma

    J Lee Nelson;J Lee Nelson;Daniel E Furst;Sean Maloney;Ted Gooley

  • Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting

    L A Herzenberg;D W Bianchi;J Schröder;H M Cann

  • Isolation of fetal DNA from nucleated erythrocytes in maternal blood

    Diana W. Bianchi;Alan F. Flint;Mary Frances Pizzimenti;Joan H. M. Knoll

  • Maternal thyroid hypofunction and pregnancy outcome.

    Jane Cleary-Goldman;Fergal D. Malone;Geralyn Lambert-Messerlian;Lisa Sullivan

  • PCR Quantitation of Fetal Cells in Maternal Blood in Normal and Aneuploid Pregnancies

    Diana W. Bianchi;John M. Williams;Lisa M. Sullivan;Frederick W. Hanson

  • Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

    D. W. Bianchi;J. L. Simpson;L. G. Jackson;S. Elias

  • The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

    Luisa Nanni;Jeffrey E. Ming;Maureen Bocian;Kathryn Steinhaus

  • Increased Fetal DNA Concentrations in the Plasma of Pregnant Women Carrying Fetuses with Trisomy 21

    Y.M. Dennis Lo;Tze K. Lau;Jun Zhang;Tse N. Leung

  • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Wybo Dondorp;Guido de Wert;Yvonne Bombard;Diana W Bianchi

  • Assisted reproductive technology and pregnancy outcome.

    Tracy Shevell;Fergal D. Malone;John Vidaver;T Flint Porter

  • Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

    Diana W. Bianchi;Darya Chudova;Amy J. Sehnert;Sucheta Bhatt

  • Microchimerism of presumed fetal origin in thyroid specimens from women: a case-control study.

    Bharath Srivatsa;Sumathi Srivatsa;Kirby L Johnson;Osamu Samura

  • Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA: A Systematic Review and Meta-analysis

    Stephanie A. Devaney;Glenn E. Palomaki;Joan A. Scott;Diana W. Bianchi

Frequent Co-Authors

Mary E. D'Alton
Mary E. D'Alton Columbia University
Lyn S. Chitty
Lyn S. Chitty University College London
David A. Nyberg
David A. Nyberg University of Washington
Jan Deprest
Jan Deprest KU Leuven
Ilan E. Timor-Tritsch
Ilan E. Timor-Tritsch Icahn School of Medicine at Mount Sinai
Lisa M. Sullivan
Lisa M. Sullivan Boston University
George R. Saade
George R. Saade The University of Texas Medical Branch at Galveston
Richard L. Berkowitz
Richard L. Berkowitz Columbia University
Brynn Levy
Brynn Levy Columbia University
Katherine W. Klinger
Katherine W. Klinger Sanofi (United States)

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