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Diana W. Bianchi, MD


Programs + Specialties
Research Interests Prenatal diagnosis, fetal treatment, Down syndrome
Training + Education Stanford University School of Medicine; Boston Children’s Hospital
Board Certifications Clinical Genetics, Neonatal-Perinatal Medicine, Pediatrics
NPI # 1578656690
Gender Female
Language(s) French

Locations + Directions

Floating Hospital for Children
Floating Hospital, 3rd Floor
800 Washington St.
Box 394
Boston, MA 02111
Fax #: 617-636-1469
Phone #: 617-636-9122

Honors + Awards

2016, Received Maureen Andrew Mentor Award from the Society of Pediatric Research

2015, Received Neonatal Landmark Award from the American Academy of Pediatrics

2015, Received Boston Business Journal 2015 Healthcare Heroes Award for Research Category

2014, Appointed Search Committee Member, Director of Extramural Research, NICHD

2013, "Top Doctor," Boston Magazine<

2013, Elected to membership of the Institute of Medicine

2013, Received the NIH Senior Investigator Award for the International Federation of Placenta Associations

2012, "Top Doctor," Boston Magazine

2012, "Top Doctor" and in top 1% in the nation in her specialty, U.S. News & World Report

2012, Received the Duane Alexander Award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

2012, Received the Christopher Columbus Spirit of Discovery Award, Tufts University

2010, Elected Member, Association of American Physicians (AAP)

2008-2009, Hedwig van Ameringen Executive Leadership in Acad. Med. Progr. (ELAM)

2008, Corresponding Member, National Academy of Medicine, Argentina

2006, Honorary Member, American Pediatric Surgical Association

2004, Kristine Sandberg Knisely Award, University of PA School of Medicine

2003, Distinguished Faculty Award, Tufts University School of Medicine

2002, Honorary Member, Society for Maternal-Fetal Medicine

1996, Zucker Prize for Outstanding Faculty Research, Tufts Univ. Sch. of Med.

1990-1992, Basil O'Connor Starter Scholar Research Award, March of Dimes

Publications + National Presentations

1. Bianchi DW, Chudova D, Sehnert AJ, Bhatt S, Murray K, Prosen TL, Garber JE, Wilkins-Haug L, Vora NL, Warsof S, Goldberg J, Ziainia T, Halks-Miller M. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA. 2015 Jul 14;314(2):162-9. doi: 10.1001/jama.2015.7120. PubMed PMID: 26168314.

2. Guedj F, Pennings JL, Ferres MA, Graham LC, Wick HC, Miczek KA, Slonim DK, Bianchi DW. The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome. Am J Med Genet A. 2015 Sep;167(9):1993-2008. doi: 10.1002/ajmg.a.37156. Epub 2015 May 14. PubMed PMID: 25975229.

3. Bianchi DW. Pregnancy: Prepare for unexpected prenatal test results. Nature. 2015 Jun 4;522(7554):29-30. doi: 10.1038/522029a. PubMed PMID: 26040879.

4. Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, Swanson A. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015 Feb;125(2):375-82. doi: 10.1097/AOG.0000000000000637. PubMed PMID: 25568992.

5. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014 Feb 27;370(9):799-808. doi: 10.1056/NEJMoa1311037. PubMed PMID: 24571752.

6. Guedj F, Bianchi DW. Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome. Prenat Diagn. 2013 Jun;33(6):614-8. doi: 10.1002/pd.4134. Review. PubMed PMID: 23595836.

7. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013 Feb 7;92(2):167-76. doi: 10.1016/j.ajhg.2012.12.006. Epub 2013 Jan 10. PubMed PMID: 23313373; PubMed Central PMCID: PMC3567270.

8. Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med. 2012 Jul 6;18(7):1041-51. doi: 10.1038/nm.2829. Review. PubMed PMID: 22772565; PubMed Central PMCID: PMC4433004.

9. Zwemer LM, Bianchi DW. The amniotic fluid transcriptome as a guide to understanding fetal disease. Cold Spring Harb Perspect Med. 2015 Feb 13;5(4). pii: a023101. doi: 10.1101/cshperspect.a023101. Review. PubMed PMID: 25680981.

10. Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014 Jan;60(1):78-87. doi: 10.1373/clinchem.2013.202663. Epub 2013 Nov 19. Review. PubMed PMID: 24255077.

Professional Memberships

2013-present, Member, Institute of Medicine

2012-2016, National Advisory Child Health and Human Development Council, National Institutes of Health

2007-present, Editor-in-Chief Prenatal Diagnosis

2015, Received the Neonatal Landmark Award from the American Academy of Pediatrics

2007-2012, Council Member, American Pediatric Society

2006-2010, President, International Society for Prenatal Diagnosis

2002-2006, Secretary, International Society for Prenatal Diagnosis

2002-2005, Member, Board of Directors, American Soc. of Human Genetics

2002-2005, Council Member (Genetics), Society for Pediatric Research Council (Genetics)

1999, President, Perinatal Research Society

News, Media + Videos

Diana Bianchi, MD is the Executive Director of the Mother Infant Research Institute at Tufts Medical Center in Boston, MA.

National Institutes of Health taps Tufts Medical Center prenatal geneticist for prominent post.

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Tomo Tarui wins award at Prenatal Diagnosis annual meeting.

MIRI Researchers Honored at International Society for Prenatal Diagnosis Meeting.

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An image of a baby in the womb that is being used to depict prenatal DNA testing.

In rare instances, tests have shown signs of DNA imbalance caused by undiagnosed cancer in the mother.

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Diana Bianchi, MD is the Executive Director of the Mother Infant Research Institute at Tufts Medical Center in Boston, MA.

New study by Tufts MC researcher shows that noninvasive prenatal resting may also detect some maternal cancers.

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Diana Bianchi, MD is the Executive Director of the Mother Infant Research Institute at Tufts Medical Center in Boston, MA.

Study shows non-invasive prenatal DNA tests more accurate than current screenings.

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Diana Bianchi, MD is a world-renowned researcher in maternal-fetal medicine at Tufts Medical Center.

Diana W. Bianchi, MD, Executive Director of MIRI, elected to membership of the Institute of Medicine.

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Top Doctors logo.

Tufts Medical Center and Floating Hospital for Children have Boston’s “Top Doctors.”

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Diana Bianchi, MD is a world-renowned researcher in maternal-fetal medicine at Tufts Medical Center.

Diana W. Bianchi, MD, Executive Director of MIRI honored with a prestigious NIH leadership award.

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Research Grants

William Randolph Hearst Foundation
This grant funded the full renovation of postdoctoral research facilities in the Mother Infant Research Institute
Verinata Health, Inc.
Antenatal Treatment to Improve Neurocognition in Fetuses with Down syndrome.
The goal of this project was to use the information in the human amniotic fluid transcriptome to develop novel treatment strategies that could be tested in a pregnant murine model of Down syndrome to determine if treatment improves neurocognition in affected pups.
Role: Principal Investigator

NIH/NICHD (R01HD42053)
Feto-Maternal DNA/RNA Trafficking: Biology and Applications.
The goal of this project was to identify genes that are differentially expressed in human fetuses with aneuploidy and anomalies, and to apply that information to the development of noninvasive prenatal diagnostic tests and new fetal treatments.
Role: Principal Investigator

NIH/NICHD (R01HD058880)
Translational Bioinformatics for Human Developmental Genomics.
The goal of this project was to develop better ways of annotating genomic information for application in fetal, perinatal, and neonatal research.
Role: Co-Investigator

R21 NIH/NHGRI (R21HG004865)
Assessing the Impact of DTC Genetic Testing to Inform Policy Development.
The goal of this project was to assess the accuracy of internet-based claims regarding non-invasive direct to consumer fetal gender testing, and to develop recommendations for public policy in this rapidly evolving area.
Role: Co-Investigator

NICHD T32 HD049341-05
Physician and Scientist Training in Developmental Genetics
This was a training grant that funded the stipends for nine pre-doctoral and six post-doctoral trainees. The goal of this program was to produce trainees who could aggressively and productively attack contemporary problems relevant to the diagnosis, treatment and prevention of genetic diseases that underlie problems in fetal, neonatal, and maternal health.
Role: Principal Investigator

NIH/NICHD (R01HD049469)
The Role of Fetal Cell Microchimerism in Maternal Repair.
The goal of this project was to explore the hypothesis that as a result of pregnancy, females acquire a population of progenitor cells that have regenerative potential, especially in the adult lung.
Role: Principal Investigator