NIPT reference library

Academic studies and papers associated with NIPD and NIPT

Molecular karyotyping using cffDNA


Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, et al. Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results. The New England Journal of Medicine. 2015. [Epub ahead of print]

Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genetics in Medicine. 2015. [Epub ahead of print]

Lichtenbelt KD, Diemel BD, Koster MP, Manten GT, Siljee J, Schuring-Blom GH, et al. Detection of fetal chromosomal anomalies: does Nuchal Translucency measurement have an added value in the era of Non-Invasive Prenatal Testing? Prenatal Diagnosis. 2015.

Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clinical chemistry. 2015;61(4):608-16.


Vora NL, Oʼbrien BM. Noninvasive Prenatal Testing for Microdeletion Syndromes and Expanded Trisomies: Proceed With Caution. Obstet Gynecol. 2014 123(5):1097-1099.

Jensen TJ, Kim SK, van den Boom D, Deciu C, Ehrich M. Noninvasive detection of a balanced fetal translocation from maternal plasma. Clinical Chemistry. 2014;60(10):1298-305.

Rabinowitz M, Savage M, Pettersen B, Sigurjonsson S, Hill M, Zimmermann B. Noninvasive Cell-Free DNA-Based Prenatal Detection of Microdeletions Using Single Nucleotide Polymorphism-Targeted Sequencing. Obstet Gynecol. 2014 May;123 Suppl 1:167S.


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 Jan 9. [Epub ahead of print]