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NIH

Diana W. Bianchi, M.D.  

Adjunct Investigator, Medical Genetics Branch
Head, Prenatal Genomics & Therapy Section 
Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Selected Publications

Prenatal Genomic Testing

Hui L, Bianchi DW. Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine. Annu Rev Med, 68:459-472. 2017. [PubMed]

Snyder HL, Curnow KJ, Bhatt S, Bianchi DW. Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. Prenat Diagn, 36(3):203-9. 2016. [PubMed]

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, 314(2):162-9. 2015. [PubMed]

Bianchi DW. Pregnancy: Prepare for unexpected prenatal test results. Nature, 522(7554):29-30. 2015. [PubMed]

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, 370(9):799-808. 2014. [PubMed]

Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta, 35 Suppl:S64-8. 2014. [PubMed

Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem, 60(1):243-50. 2014. [PubMed

Bianchi DW, Prosen T, Platt LD, Goldberg JD, Abuhamad AZ, Rava RP, Sehnert AJ; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma. Obstet Gynecol, 121(5):1057-62. 2013. [PubMed]

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, 92(2):167-76. 2013. [PubMed]

Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med, 18(7):1041-51. 2012. [PubMed]

The Prenatal Transcriptome

Tarui T, Kim A, Flake A, McClain L, Stratigis JD, Fried I, Newman R, Slonim DK, Bianchi DW. Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele. Am J Obstet Gynecol, (17)30864-5. 2017. [PubMed

Zwemer LM, Nolin SL, Okamoto PM, Eisenberg M, Wick HC, Bianchi DW. Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.
Prenat Diagn, 37(1):43-52. 2017. [PubMed]

Edlow AG, Hui L, Wick HC, Fried I, Bianchi DW. Assessing the fetal effects of maternal obesity via transcriptomic analysis of cord blood: a prospective case-control study. BJOG, 123(2):180-9. 2016. [PubMed]

Edlow AG, Slonim DK, Wick HC, Hui L, Bianchi DW. The pathway not taken: understanding 'omics data in the perinatal context. Am J Obstet Gynecol, 213(1):59.e1-172. 2015. [PubMed]

Zwemer LM, Bianchi DW. The amniotic fluid transcriptome as a guide to understanding fetal disease. Cold Spring Harb Perspect Med, 5(4). 2015. [PubMed]

Hui L, Wick HC, Edlow AG, Cowan JM, Bianchi DW. Global gene expression analysis of term amniotic fluid cell-free fetal RNA. Obstet Gynecol, 121(6):1248-54. 2013. [PubMed]

Hui L, Wick HC, Moise KJ Jr, Johnson A, Luks F, Haeri S, Johnson KL, Bianchi  DW. Global gene expression analysis of amniotic fluid cell-free RNA from
recipient twins with twin-twin transfusion syndrome. Prenat Diagn, 33(9):873-83. 2013. [PubMed

Hui L, Slonim DK, Wick HC, Johnson KL, Koide K, Bianchi DW. Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21. Hum Genet, 131(11):1751-9. 2012. [PubMed

Edlow AG, Bianchi DW. Tracking fetal development through molecular analysis of maternal biofluids. Biochim Biophys Acta, 1822(12):1970-80. [PubMed]

Hui L, Slonim DK, Wick HC, Johnson KL, Bianchi DW. The amniotic fluid transcriptome: a source of novel information about human fetal development.Obstet Gynecol, 119(1):111-8. 2012. [PubMed]

Prenatal Therapy for Down Syndrome

de Wert G, Dondorp W, Bianchi DW. Fetal therapy for Down syndrome: an ethical exploration. Prenat Diagn, 37(3):222-228. 2017. [PubMed

Ferrés MA, Bianchi DW, Siegel AE, Bronson RT, Huggins GS, Guedj F. Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development. PLoS One, Dec 8;11(12). 2016. [PubMed

Guedj F, Pennings JL, Massingham LJ, Wick HC, Siegel AE, Tantravahi U, Bianchi DW. An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome. Sci Rep, 6:32353. 2016. [PubMed]

Goodliffe JW, Olmos-Serrano JL, Aziz NM, Pennings JL, Guedj F, Bianchi DW, Haydar TF. Absence of Prenatal Forebrain Defects in the Dp(16)1Yey/+ Mouse Model of Down Syndrome. J Neurosci, 36(10):2926-44. 2016. [PubMed]

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, 167A(9):1993-2008. 2015. [PubMed

Guedj F, Bianchi DW, Delabar JM. Prenatal treatment of Down syndrome: a reality? Curr Opin Obstet Gynecol, Apr;26(2):92-103. 2014. [PubMed]

Guedj F, Bianchi DW. Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome. Prenat Diagn, 33(6):614-8. 2013. [PubMed]

Last Updated: August 28, 2017