ORCID
- Madgett, Tracey: 0000-0002-3463-1922
Abstract
ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.
DOI
10.2478/v10034-012-0013-z
Publication Date
2012-12-01
Publication Title
Balkan Journal of Medical Genetics
Volume
15
ISSN
1311-0160
Organisational Unit
School of Biomedical Sciences
First Page
17
Last Page
26
Recommended Citation
Avent, N. D., Webb, A., Madgett, T., Miran, T., Sillence, K., Kaushik, N., & Kiernan, M. (2012) 'Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?', Balkan Journal of Medical Genetics, 15, pp. 17-26. Available at: https://doi.org/10.2478/v10034-012-0013-z
