# Diana Bianchi

Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder 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

Bianchi grew up in New York City and 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, 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.

## Career

After medical school at Stanford University, she completed her postdoctoral work at Boston Children’s Hospital and Harvard Medical School. 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 journal of the International Society for Prenatal Diagnosis. In 2010, she founded the Mother Infant Research Institute at Tufts Medical Center, assuming the position of executive director. Bianchi is one of four authors of the book Fetology: Diagnosis and Management of the Fetal Patient, 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. This has led to a field of study known as fetal cell microchimerism.
Bianchi also has worked extensively on noninvasive prenatal testing 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 non-invasive testing 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. In addition, Bianchi has pioneered the study of the amniotic fluid fetal transcriptome to develop new approaches to prenatal treatment of genetic conditions. She is a former member of the Clinical Advisory Board of Verinata Health, an Illumina company.
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. Bianchi has also studied the underlying biological reasons for false positive results following NIPT. She has shown that maternal malignancies can cause genome-wide imbalance that presents as a false positive result of fetal aneuploidy. 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.
Bianchi was appointed director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the U.S. National Institutes of Health, on August 25, 2016. In this role, she oversees research on pediatric health and development, maternal health, medical rehabilitation, population dynamics, reproductive health, and intellectual and developmental disabilities. In 2020, she received an honorary doctorate from the University of Amsterdam that recognized her contributions to the fields of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA fragments. In 2022, Bianchi was a finalist for a Samuel J. Heyman Service to America Medal, or Sammie, in recognition of her efforts in advancing critical research to understand the medical implications of COVID-19 among underserved populations. Later that year, Bianchi was named to Forbes Magazine's Top 50 Women Over 50: Impact.

## Significant papers

* Bianchi, DW; Flint AF; Pizzimenti MF; Knoll JH; Latt SA (1990). "Isolation of fetal DNA from nucleated erythrocytes in maternal blood". Proceedings of the National Academy of Sciences. 87 (9): 3279–3283. Bibcode:1990PNAS...87.3279B. doi:10.1073/pnas.87.9.3279. PMC 53883. PMID 2333281.
* Bianchi, DW; Zickwolf GK; Weil GJ; Sylvester S; DeMaria MA (1996). "Male fetal progenitor cells persist in maternal blood for as long as 27 years post-partum". Proceedings of the National Academy of Sciences. 93 (2): 705–708. Bibcode:1996PNAS...93..705B. doi:10.1073/pnas.93.2.705. PMC 40117. PMID 8570620.
* Srivatsa, B; Srivatsa S; Samura O; Johnson KL; Lee SL; Bianchi DW (2001). "Microchimerism of presumed fetal origin in thyroid specimens from women: a case-control study". Lancet. 358 (9298): 2034–2038. doi:10.1016/S0140-6736(01)07099-4. PMID 11755610. S2CID 21191524.
* Bianchi, DW; Simpson, JL; Jackson, LG; et al. (2002). "Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data". Prenatal Diagnosis. 22 (7): 609–615. doi:10.1002/pd.347. PMID 12124698. S2CID 8952215.
* Khosrotehrani, K; Johnson KL; Cha DH; Salomon R; Bianchi DW (2004). "Transfer of fetal cells with multi-lineage potential to maternal tissue". JAMA. 292 (1): 75–80. doi:10.1001/jama.292.1.75. PMID 15238593.
* Larrabee, PB; Johnson KL; Lai C; Ordovas J; Cowan JM; Tantravahi U; Bianchi DW (2005). "Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid". JAMA. 293 (7): 836–842. doi:10.1001/jama.293.7.836. PMID 15713773.
* Slonim, DK; Koide K; Johnson KL; Tantravahi U; Cowan JM; Jarrah Z; Bianchi, DW (2009). "Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses". Proceedings of the National Academy of Sciences. 106 (23): 9425–9429. Bibcode:2009PNAS..106.9425S. doi:10.1073/pnas.0903909106. PMC 2687148. PMID 19474297.
* Bianchi, DW; Platt LD; Goldberg JD; Abuhamad AZ; Sehnert AJ; Rava RP (2012). "Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing". Obstetrics and Gynecology. 119 (5): 890–901. doi:10.1097/AOG.0b013e31824fb482. PMID 22362253. S2CID 27197679.
* 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.
* Guedj, F; Bianchi, DW (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. S2CID 21931267.
* 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.
* 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.

## Awards

* 1997 Milton O. and Natalie V. Zucker Prize for Outstanding Faculty Research, Tufts University School of Medicine
* 2004 Kristine Sandberg Knisely Award, University of Pennsylvania School of Medicine
* 2008 Foreign Corresponding Member, National Academy of Medicine, Argentina
* 2010 Association of American Physicians
* 2012 Duane Alexander Award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development
* 2012 National Advisory Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development
* 2012 Christopher Columbus Spirit of Discovery Award from Tufts University
* 2013 Member, Institute of Medicine (now National Academy of Medicine), National Academies of Science
* 2015 Landmark Award, American Academy of Pediatrics
* 2016 Maureen Andrew Mentor Award, Society for Pediatric Research
* 2016 Honoree, Massachusetts Society for Medical Research
* 2017 March of Dimes Colonel Harland Sanders Lifetime Achievement Award in Genetics
* 2019 Pioneer Award, International Society for Prenatal Diagnosis
* 2020 Health Public Service Visionary Award, Society for Women’s Health Research
* 2022 Finalist, Samuel J. Heyman Service to America Medal

## Leadership positions in professional societies

* 1999 - President, Perinatal Research Society
* 2002-2005 - Council Member (Genetics), Society for Pediatric Research
* 2002-2005 - Board of Directors, American Society of Human Genetics
* 2007-2012 - Council Member, American Pediatric Society
* 2006-2010 - President, International Society for Prenatal Diagnosis

## Patents issued

* 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.