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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CONCLUSIONS
In summary, despite various non invasive
methods invented to diagnose aneuploidy, none
are yet used in practice. Methods described in the
current literature can be split into methods based
on allelic ratio or chromosome dose. Allelic ratio
methods are held back by their restriction to heterozygous
fetuses, yet if a combination of SNPs could
be used, their combined heterozygosity rate could
potentially cover the general population. However,
allelic ratio approaches would still be unable to
diagnose monosomies. Chromosome dose methods
have the advantage of being polymorphismindependent
and have the potential to diagnose
trisomies, monosomies and in the case of NGSbased
methods, possibly even partial trisomies but
this needs to be verified by further research. For
these methods to be introduced into practice, further
research needs to be aimed at simplifying the
methods and reducing the cost. Another approach
would be to selectively enrich cffDNA or deplete
maternally derived cell free DNA to overcome the
problem of low cffDNA concentration in maternal
plasma; this would allow more straight-forward
analysis methods to be used. Co-amplification at
lower denaturation temperature-PCR seems the
most promising enrichment technique discussed
but requires further investigation.
With the progress made in NIPD since the discovery
of cffDNA, and invention of new sequencing
techniques, it is not over optimistic to predict
that NIPD will be used in practice in the near future;
improving detection rate, allowing earlier diagnosis
and eliminating iatrogenic fetal loss and risk to the
mother due to invasive procedures.
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