GENETIC TESTING: NON-INVASIVE PRENATAL TESTING 2

Genetic Testing: Non-invasive Prenatal Testing (NIPT)The rise of new technologies in genetic testing has played a central role in improvingthe early screening and diagnoses of fetal genetic disorders. In general, the term genetic testing –which became popular in the mid-20 th century following the discovery of the double-helixstructure of the DNA by James Watson – […]

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Genetic Testing: Non-invasive Prenatal Testing (NIPT)
The rise of new technologies in genetic testing has played a central role in improving
the early screening and diagnoses of fetal genetic disorders. In general, the term genetic testing –
which became popular in the mid-20 th century following the discovery of the double-helix
structure of the DNA by James Watson – is a form of therapeutic diagnosis used to detect the
structural changes in proteins, genes, and chromosomes (Itahashi et al., 2018). Typically, the
outcomes of a genetic test can rule out or verify the presence of a suspected genetic disorder,
helping doctors to put in place early interventions and measures to combat the severe symptoms
of the condition in both the short-term and long-term. Today, nearly 1000 genetic testing
methods are in use. This particular article will focus on the use of non-invasive prenatal testing.

What is Non-Invasive Prenatal Testing?

Non-invasive prenatal testing, commonly shortened as NIPT and sometimes referred to as
noninvasive prenatal screening, is a technique used to screen pregnant mothers to detect the risk
that they will give birth to newborns with genetic deformities (Dupras et al., 2018). Typically,
this method examines the miniscule, free-floating DNA pieces (referred to as cell-free DNA) that
circulate in the maternal blood. Because these DNA fragments are free-floating and enclosed in
the nucleus, they often contain fewer than 200 base pairs. These fragments usually come about
when cells die, as well as their contents, are broken down and released into the bloodstream,
including DNA. Therefore, during pregnancy, the pregnant mother’s blood consists of a mix of
cell-free DNA particles from her own cells and those from the placenta (Qi et al., 2016).
The placental DNA cells are often similar to the DNA of the unborn infants. NIPT is an
appropriate genetic diagnostic test for screening fetal abnormalities because it is cheap and non-
invasive. The technique can detect a broad range of chromosomal conditions caused by

GENETIC TESTING: NON-INVASIVE PRENATAL TESTING 3
aneuploidy (absence or presence of an extra copy of chromosomes). NIPT majorly screens for
trisomy, trisomy 18, Down syndrome, as well as missing or additional copies of the sex
chromosomes Y and X. The cost of a non-invasive prenatal test in the U.S. ranges between $800
and $2000 and $500 and $1500 outside the country (Canadian Agency for Drugs and
Technologies in Health, 2014).
What are the Benefits and Limitations Associated with the Use of NIPT?
Unlike invasive diagnostic techniques, NIPT is considered a safer option since it only
needs drawing blood from the mother, without posing any health risk to the unborn baby or the
mother, such as a miscarriage (Dupras et al., 2018). Another key strength of this technique is that
it can also detect genetic defects in the mother. This is because the method screens DNA
fragments in both placental blood and maternal blood. However, because NIPT is just a
screening test, it does not give conclusive or definite answers about whether the unborn baby
(fetus) has a genetic defect or not. The technique can only measure whether the risk is high or
low. There are also instances whereby the outcomes of the NIPT test can be wrong and
misleading. For example, in some instances, it is possible the test can indicate an increased risk
when in reality the fetus is untouched (false positive).

The Role and Background of the Genetic Counselor

The only professionals that are allowed to screen patients (for this case pregnant mothers)
using the NIPT method to detect the risk of conceiving newborns with genetic defects are genetic
counselors fully licensed and certified by the American Board of Genetic Counseling (ABGC).
The counselor must hold a bachelor’s degree in social science, biology, or any related field, as
well as have specialized training in genetics. Having a master’s degree in genetic counseling is
also an added advantage but the program must be certified by the ABGC. The role of the genetic

GENETIC TESTING: NON-INVASIVE PRENATAL TESTING 4
counselor, in the case of NIPT, is to assist pregnant mothers to understand what non-invasive
prenatal testing is, sail them through the process, and assist them to make appropriate and
informed decisions based on the outcomes (Kohut, Limb, & Crawford, 2019).

GENETIC TESTING: NON-INVASIVE PRENATAL TESTING 5

References

Canadian Agency for Drugs and Technologies in Health. (2014). Non-invasive prenatal testing:
A review of the cost-effectiveness and guidelines [Internet]. CADTH Rapid Response
Reports.
Dupras, C., et al. (2018). Benefits, challenges, and ethical principles associated with
implementing noninvasive prenatal testing: A Delphi study. Canadian Medical
Association Journal Open, 6(4), E519-E519.  doi: 10.9778/cmajo.20180083
Itahashi, K., et al. (2018). Evaluating clinical genome sequence analysis by Watson for
genomics. Frontiers in Medicine, 5(305). doi: 10.3389/fmed.2018.00305
Kohut, K., Limb, S., & Crawford, G. (2019). The changing role of the genetic counselor in the
genomics era. Current Genetic Medicine Report, 7, 75-84.
Qi, G., et al. (2016). Noninvasive prenatal testing in routine clinical practice for a high-risk
population: Experience from a center. Medicine, 95(41), e5126.

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