Journal article

Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21

Lisa Hui, Donna K Slonim, Heather C Wick, Kirby L Johnson, Keiko Koide, Diana W Bianchi

Human Genetics | SPRINGER | Published : 2012

Abstract

Trisomies 18 and 21 are the two most common live born autosomal aneuploidies in humans. While the anatomic abnormalities in affected fetuses are well documented, the dysregulated biological pathways associated with the development of the aneuploid phenotype are less clear. Amniotic fluid (AF) cell-free RNA is a valuable source of biological information obtainable from live fetuses. In this study, we mined gene expression data previously produced by our group from mid-trimester AF supernatant samples. We identified the euploid, trisomy 18 and trisomy 21 AF transcriptomes, and analyzed them with a particular focus on the nervous system. We used multiple bioinformatics resources, including DAVI..

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Grants

Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Funding Acknowledgements

The authors thank Janet Cowan, PhD, and Uma Tantravahi, PhD, who provided the AF supernatant samples. Financial support was provided by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD 42053-09 to Dr Bianchi and R01 HD 058880 to Dr Slonim); the University of Sydney Medical School (Albert S. McKern Research Scholarship to Dr Hui); and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists Research Foundation (Fotheringham Fellowship to Dr Hui). The authors declare that they have no conflicts of interest to disclose. This study complies with current laws of the United States of America.