Non-Invasive Prenatal Testing (NIPT) for Genetic Abnormality Detection

This report delves into Non-Invasive Prenatal Testing (NIPT), a crucial method for detecting genetic abnormalities in fetuses. It highlights the benefits, including high accuracy, non-invasiveness, and early detection capabilities through blood tests. The report also addresses the cost of implementation, including equipment, reagents, and human resources. The rationale for NIPT's importance is established by referencing statistics on genetic disorders and infant mortality. The report discusses the implications of NIPT on healthcare outcomes, cost reduction, and informed decision-making for parents. It concludes by emphasizing the significance of NIPT in improving foetal health and the overall standard of living for families. The report is supported by references to relevant research articles.

Non-Invasive
Parental
Testing:
Breakthrough
in Genomic
Science
:Submitted by:

Non-Invasive Parental Testing:
– Non-Invasive Parental Testing (NIPT) also
known as Non-Invasive Parental Screening
can be defined as a method of
determining the risk that the foetus
would be born with genetic abnormalities
(Chandrasekharan et al., 2014).
– The test analyses the fragments of cell
free DNA that circulate within the blood
of a pregnant mother, the analysis of this
DNA helps in detecting genetic
abnormalities.

Improved Quality Outcome:
– The implementation of the NIPT
genetic testing within the
healthcare setting would greatly
improve the foetal health outcome.
– At the same time, it would also
reduce the medical cost associated
with the disease burden of getting
a baby tested positive for genetic
abnormalities and improve the
standard of living for the parents.

Rationale for Implementation:
– According to Song et al. (2013), it has been
reported that approximately 3% to 5% of the births
are accompanied with genetic malformations
– It has further been mentioned that 20% to 30% of
the infant deaths in the United States occur due to
genetic disorders (Song et al. 2013).
– As per Song et al. (2013), 11.1% of the infant and
paediatric hospitalizations are due to genetic
abnormalities and malfunctions which suggests
that there is a heightened need to implement a
pre-natal testing method so that the mortality rate
could be reduced and healthier health outcome
could be promoted.

Benefits:
– Provided 99% accurate and precise results
(Chandrasekharan et al. 2014)
– No risks involved
– Includes a simple blood test
– Can be screened at 9 weeks of pregnancy
– Helps in differentiating between maternal
and foetal DNA which helps to avoid false
results
– Results can be obtained within 14 days
– Helps the couple make an informed and
correct decision.

Related cost:
– Cost of NIPT Machine Implementation: Approx. $2800,000 per year
– Chemicals and Reagents: $25,000 per year
– Human Resource: $200,000 per year

References:
Chandrasekharan, S., Minear, M. A., Hung, A., & Allyse, M. (2014). Noninvasive
prenatal testing goes global. Science translational medicine, 6(231), 231fs15-
231fs15. DOI: 10.1126/scitranslmed.3008704. Retrieved from:
https://www.ncbi.nlm.nih.gov/pubmed/24718856
Song, K., Musci, T. J., & Caughey, A. B. (2013). Clinical utility and cost of non-
invasive prenatal testing with cfDNA analysis in high-risk women based on a US
population. The journal of maternal-fetal & neonatal medicine, 26(12), 1180-
1185. DOI: 10.3109/14767058.2013.770464. Retrieved from:
https://www.ncbi.nlm.nih.gov/pubmed/23356557

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