NON INVASIVE PRENATAL DIAGNOSIS OF ANEUPLOIDY:
NEXT GENERATION SEQUENCING OR FETAL DNA
ENRICHMENT?
Webb A, Madgett TE, Miran T, Sillence K, Kaushik N, Kiernan M, Avent ND*
*Corresponding Author: Professor Neil D. Avent, School of Biomedical and Biological Sciences, Faculty of
Science and Technology, A411 Portland Square, Drake Circus, Plymouth, Devon, PL4 8AA, UK; Tel.: +44-
(0)1752-584884; Fax: +44-(0)1752-584605; E-mail: neil.avent@plymouth.ac.uk
page: 17
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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.
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