Diana W. Bianchi

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Diana W. Bianchi
Dr. Diana W. Bianchi.jpg
Bianchi in 2017
Alma materUniversity of Pennsylvania, Stanford University School of Medicine
Known forFetal cell microchimerism Non-invasive prenatal testing (NIPT)
Scientific career
FieldsMedical Genetics, Neonatology
InstitutionsEunice Kennedy Shriver National Institute of Child Health and Human Development, Tufts University School of Medicine, Tufts Medical Center, Floating Hospital for Children
Doctoral advisorLeonard Herzenberg

Diana W. Bianchi is an American medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. She is the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH). Prior to joining NIH, Bianchi was the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and Executive Director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.

Early life and education[edit]

Bianchi grew up in New York City. She graduated from Hunter College High School.

Bianchi earned a B.A. magna cum laude from University of Pennsylvania and an M.D. from Stanford University School of Medicine. While at Stanford she performed her doctoral research with Leonard Herzenberg, Ph.D., studying the use of flow cytometry to develop a noninvasive cytogenetic prenatal diagnostic test for Down syndrome. One of Herzenberg’s children had Down syndrome, so the project had both scientific and personal significance for her mentor.[1]


After medical school at Stanford University, she completed her postdoctoral work at Boston Children’s Hospital and Harvard Medical School.[2] Bianchi joined the faculty at Harvard University in 1986, concurrently assuming a position as an attending neonatologist and geneticist at Boston Children’s Hospital. In 1993, Bianchi left to take a position at Tufts University School of Medicine, receiving an endowed chair in 2002.

In 2007, Bianchi became Editor-in-Chief of Prenatal Diagnosis, the official journal of the International Society for Prenatal Diagnosis.[3] In 2010, she founded the Mother Infant Research Institute (MIRI) at Tufts Medical Center, assuming the position of Executive Director.[4] Bianchi is one of four authors of the book Fetology: Diagnosis and Management of the Fetal Patient,[5] which won the Association of American Publishers award for the best textbook in clinical medicine in 2000.

Bianchi has worked for many years on developing methods to isolate intact fetal cells from maternal blood as a noninvasive way to obtain fetal material for genetic diagnosis. While the work proved challenging due to the relative rarity of the fetal cells in the mother’s blood, the research led to an unexpected finding. Bianchi discovered that intact fetal cells remain in the mother's blood and organs for decades following pregnancy, with the possibility of migrating to the site of an injury in the mother, dividing and changing into the cells needed to fix the problem.[6][7][8] This has led to a field of study known as fetal cell microchimerism.[7]

Bianchi also has worked extensively on noninvasive prenatal testing (NIPS) using DNA sequencing of fetal and placental DNA fragments in the blood of pregnant women. Dr. Bianchi’s research is part of what has helped expand the use of NIPS in the general obstetrical population.The sequencing technology employed in cfDNA testing has a number of potential uses in many areas of health care, Dr. Messerlian says, including cancer, transplantation and in vitro fertilization protocols, and research she is conducting is exploring those possibilities.This technology has been used in clinical prenatal care since 2011.[9] In addition, Bianchi has pioneered the study of the amniotic fluid fetal transcriptome to develop new approaches to prenatal treatment of genetic conditions.[10] She is a former member of the Clinical Advisory Board of Verinata Health, an Illumina company.[11]

In 2014, Bianchi was the lead author on a study published in the New England Journal of Medicine that examined cell free fetal DNA test performance in a general obstetrical population. This study showed that cell free DNA testing had lower false positive rates and higher positive predictive values than maternal serum biochemistry analyses with or without ultrasound measurements of the back of the fetal neck.[12][13] Bianchi has also studied the underlying biological reasons for false positive results following NIPT.[14] She has shown that maternal malignancies can cause genome-wide imbalance that presents as a false positive result of fetal aneuploidy.[15] Currently, Bianchi is working with a mouse model to develop a prenatal treatment that could be given to a pregnant woman carrying a fetus with Down syndrome. The goal of the work is to improve brain development in the womb and neurocognition after birth.[16][17]

Bianchi was appointed as NICHD Director on August 25, 2016.[18] In this role, she oversees research on pediatric health and development, maternal health, medical rehabilitation, population dynamics, reproductive health, and intellectual and developmental disabilities.

Significant papers[edit]


  • 1997 Milton O. and Natalie V. Zucker Prize for Outstanding Faculty Research, Tufts University School of Medicine[19]
  • 2004 Kristine Sandberg Knisely Award, University of Pennsylvania School of Medicine[20]
  • 2008 Foreign Corresponding Member, National Academy of Medicine, Argentina[21]
  • 2010 Association of American Physicians[22]
  • 2012 Duane Alexander Award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)[23]
  • 2012 National Advisory Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)[24]
  • 2012 Christopher Columbus Spirit of Discovery Award from Tufts University[25]
  • 2013 Member, Institute of Medicine (now National Academy of Medicine), National Academies of Science[26]
  • 2015 Landmark Award, American Academy of Pediatrics[27]
  • 2016 Maureen Andrew Mentor Award, Society for Pediatric Research[28]
  • 2016 Honoree, Massachusetts Society for Medical Research[29]
  • 2017 March of Dimes Colonel Harland Sanders Lifetime Achievement Award in Genetics

Leadership positions in professional societies[edit]

  • 1999 - President, Perinatal Research Society (PRS)[30]
  • 2002-2005 - Council Member (Genetics), Society for Pediatric Research (SPR)[31]
  • 2002-2005 - Board of Directors, American Society of Human Genetics (ASHG)[32]
  • 2007-2012 - Council Member, American Pediatric Society (APS)[33]
  • 2006-2010 - President, International Society for Prenatal Diagnosis[34][35]

Patents issued[edit]

  • U.S. Patent # 5, 641, 628, Non-invasive method for isolation and detection of fetal DNA, Date of application: 11/13/89, Date of patent: 6/24/97, Inventor: Diana W. Bianchi, Assignee: Children's Hospital, Boston MA
  • U.S. Patent # 5, 648, 220, Methods for labeling intracytoplasmic molecules, Date of application: 2/14/95, Date of patent: 7/15/97, Inventors: Diana W. Bianchi, MaryAnn DeMaria, Assignee: New England Medical Center, Boston MA
  • U.S. Patent # 5, 714, 325, Prenatal diagnosis by isolation of fetal granulocytes from maternal blood, Date of application: 9/24/93, Date of patent: 2/3/98, Inventor: Diana W. Bianchi, M.D., Assignee: New England Medical Center
  • European Patent # 0500727, Non-invasive method for isolation and detection of fetal DNA, Date of application: 11/30/90, Date of patent: 1/21/98, Inventor: Diana W. Bianchi, M.D., Assignee: Children's Medical Center Corporation
  • U.S. Patent # 5,830,679, Diagnostic Blood Test to identify Infants at Risk for Sepsis, Date of Patent 11/3/98, Inventors: Diana W. Bianchi, M.D., Nancy Weinschenk, M.D., Assignee: New England Medical Center
  • European Patent # 99125132.3-2106, Method for Labeling Intracytoplasmic Molecules, Date of Patent 2/8/00, Inventors: Diana W. Bianchi and Mary Ann De Maria, Assignee: New England Medical Center Hospitals, Inc.


  1. ^ "Stanford Geneticist Leonard Herzenberg dies". Palo Alto Online. 12 November 2013. Retrieved 10 February 2014.
  2. ^ "Pediatrics expert, geneticist Diana Bianchi to head NIH's national institute for child health". Healthcare IT News. 2016-08-26. Retrieved 2018-02-03.
  3. ^ "Prenatal Diagnosis". Wiley Online Library. Retrieved 4 April 2014.
  4. ^ "In Conversation: Tufts Geneticist Diana Bianchi on Noninvasive Prenatal Testing". Bio-IT World. 5 November 2012. Retrieved 4 April 2014.
  5. ^ Bianchi, Diana; Crombleholme, T.; D'Alton, M.; Malone, F. (2000). Fetology: Diagnosis and Management of the Fetal Patient. New York: McGraw Hill Medical.
  6. ^ Khosrotehrani, K; Johnson, KL; Cha, DH; Salomon, RN; Bianchi, DW (2004). "Transfer of fetal cells with multilineage potential to maternal tissue". JAMA. 292 (1): 75–80. doi:10.1001/jama.292.1.75. PMID 15238593. Retrieved 11 February 2014.
  7. ^ a b Bianchi, DW; Fisk, NM (2007). "Fetomaternal cell trafficking and the stem cell debate: gender matters". JAMA. 297 (13): 1489–1491. doi:10.1001/jama.297.13.1489. PMID 17405974. Retrieved 11 February 2014.
  8. ^ Pritchard, S; Bianchi, DW (2012). "Fetal cell microchimerism in the maternal heart: baby gives back". Circulation Research. 110 (1): 82–93. doi:10.1161/CIRCRESAHA.111.260299. PMC 4459519. PMID 22223204.
  9. ^ "In Conversation: Tufts Geneticist Diana Bianchi on Noninvasive Prenatal Testing". Bio-IT World. 5 November 2012. Retrieved 26 March 2014.
  10. ^ Bianchi, DW (2012). "From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges". Nature Medicine. 18 (7): 1041–1051. doi:10.1038/nm.2829. PMC 4433004. PMID 22772565. Retrieved 11 February 2014.
  11. ^ Clinical Advisory Board Verinata "Archived copy". Archived from the original on 2013-12-18. Retrieved 2014-02-07.
  12. ^ Belluck, Pam (26 February 2014). "Test is Improved Predictor of Fetal Disorders". The New York Times. Retrieved 26 March 2014.
  13. ^ Bianchi, DW; Parker, RL; Wentworth, J; et al. (February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine. 370 (9): 799–808. doi:10.1056/nejmoa1311037. PMID 24571752.
  14. ^ Bianchi, DW (June 2015). "Pregnancy: prepare for unexpected prenatal test results". Nature. 522 (7554): 29–30. doi:10.1038/522029a. PMID 26040879.
  15. ^ Bianchi, DW; Chudova, S; Sehnert, AJ; et al. (2015). "Noninvasive prenatal testing and incidental detection of occult maternal malignancies". JAMA. 314 (2): 162–169. doi:10.1001/jama.2015.7120. PMID 26168314.
  16. ^ Guedj, F; Bianchi, DW (June 2013). "Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome". Prenatal Diagnosis. 33 (6): 614–618. doi:10.1002/pd.4134. PMID 23595836.
  17. ^ "A Change of Mind". MIT Technology Review. 16 December 2015. Retrieved 7 June 2016.
  18. ^ "NIH names Dr. Diana Bianchi director of the National Institute of Child Health and Human Development". NIH Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. 25 August 2016. Retrieved 31 August 2016.
  19. ^ List of Recipients Milton O. and Natalie V. Zucker Prize, Tufts University School of Medicine http://sackler.tufts.edu/Faculty-and-Research/Faculty[permanent dead link] Recognition/Zucker-Research-Prizes/Milton-O-and-Natalie-V-Zucker-Prize
  20. ^ Children's Hospital of Philadelphia Kristine Sandberg Knisely Lectureship http://www.chop.edu/service/neonatology/professional-resources/kristine-sandberg-knisely-lectureship.html
  21. ^ Academia Nacional de Medicina Buenos Aires http://www.acamedbai.org.ar/integrantes.php#correspondientes-extranjeros
  22. ^ 12.13. Members Directory, Association of American Physicians http://aap-online.org/admin/members.php?search=1
  23. ^ Bio, Diana W. Bianchi, American Academy of Pediatrics http://www2.aap.org/sections/perinatal/pdf/BianchiBio.pdf
  24. ^ Roster, National Advisory Council, NICHD "Archived copy". Archived from the original on 2014-01-05. Retrieved 2014-02-07.
  25. ^ List of recipients, Tufts University Christopher Columbus Spirit of Discovery Award http://president.tufts.edu/christopher-columbus-celebrate-discovery-award/#
  26. ^ "Institute of Medicine Elects 70 New Members, 10 Foreign Associates". 21 October 2013. Archived from the original on 2014-07-16. Retrieved 13 February 2014.
  27. ^ https://www2.aap.org/sections/perinatal/awards.html
  28. ^ https://www.aps-spr.org/spr/awards/Andrew/2016awardees.asp
  29. ^ https://www.http[permanent dead link]://msmr.org/event/celebrate-biomedical-research-day-draft/
  30. ^ https://web.archive.org/web/20131126115504/http://perinatalresearchsociety.org/Council.html. Archived from the original on November 26, 2013. Retrieved February 13, 2014. Missing or empty |title= (help)
  31. ^ Membership records at SPR. Contact APS Executive Offices: http://www.aps-spr.org
  32. ^ American Society of Human Genetics Business Meeting Minutes 10/2002 http://www.ashg.org/pdf/October_2002.pdf
  33. ^ Membership records at APS. Contact APS Executive Offices: http://www.aps-spr.org
  34. ^ Diana Bianchi Speaker Bio, Tufts University Presidential Inauguration 2011 http://president.tufts.edu/inauguration2011/bianchi/
  35. ^ International Society of Prenatal Diagnosis Directory of Officers "Archived copy". Archived from the original on 2014-03-24. Retrieved 2014-02-13.

External links[edit]