Introduction

According to Willems, et al. (2014), non-Invasive Prenatal Test (NIPT)is a method technique used in determining the fetal risk in acquiring specific genetical abnormalities at birth. Before the invention of NIPT, several methods were used which include; amniocentesisin which the sample of amniotic fluid is taken and tested for the abnormalities. The choice of amniotic fluid depends on the presence of the fetal fragments hence right components used in determining the genetic defects are obtained, stated Sachs Amy, et al. (2015). The other method is Chorionic Villus Sampling (CVS);whichbrings into account the placental tissues, whereby the sample is tested for chromosomal abnormalities. Paternal Sample Collection which involved the use of a swab in getting the DNA fragments from the outstanding potential father(s) has also been used. The NIPT are accessible and useful in making the screening of the chromosomal abnormalities as the risks confirmed are quite lower than the alternative methods as the processes are lesser sensitive and more genuine.Brady, Paul, et al. (2016) argues that the data obtained in NIPT is always accurate to a greater extent as the results have got to a greater degree not more sensitive and low false results percentiles.Non-invasive Prenatal Testing tries to test and analyse the minute fragments of DNA circulating in the expectant woman’s blood, this is pivotal as the mother’s blood has a mix of the cell-freeDNA coming from the fetus’ cells and the mothers’.

Summary of the Article

In line with Schendel, Rachel et al. (2015), the NIPT test has been carried out by Ariosa Diagnostic which is a global molecular diagnostic company that majorly aims at developing and bringing innovative testing services across the world. The company’s chief test is called the Harmony Prenatal test which is done by screening the blood for trisomy’s 21,(down syndrome), 18(Edwards Syndrome) and 13(Patau Syndrome). The Genesis Serenity Company has also pioneered the pre-implantation test of embryos to check for genetic abnormalities that were inherited. Its areas of specialization are in the preimplantation screening and preimplantation genetic diagnostic. The Non –Invasive prenatal test (NIPT) is a serenity test that offers reassurance on pregnancies during its early stages for trisomy’s 13, 18, 21 and sex chromosomes abnormalities Hill, Melissa, et al., (2014). Panorama Natera is a fast-growing genetic and diagnostic company which has similarly researched on NIPT. It has proprietary bioinformatics and molecular technology. The NIPT test is therefore called Panorama which gives expectant mothers a chance to know the possibility of their unborn baby to have an abnormality with the chromosomes. Lastly, Sequenom laboratories is a company that offers genetic testing in areas such as reproductive health, carrier screening and genetic counseling, which includes NIPT test.

According to Akoleka, Ranjit et al., (2015), the research that backs up the NIPT test is PEGASUS which stands for personalized genomics for prenatal Aneuploidy Screening using maternal blood. The main aim of the study is to publicize the funded non-invasive parental screening and make it an option for all women who are pregnant. The Ontario and British Colombia committees do the funding of the PEGASUS project. There is biasedness in the funding since they primarily focused on women thought to be at high risk by traditional parental screening. The PEGASUS is a four-year effort project. NIPT has been there since 2011, making it around seven years in existence, helping Canadian women who are willing to pay from their own pockets until in 2016- 2017 when the Ontario committees carried out the tests. NIPT is not 100% accurate due to the false negatives; which occur as 0.3%, as stated Farrell, Ruth, et al. (2014). The resultant effect is due to the introduction of NIPT in the early stages of pregnancy thus making it possible for the cell-free DNA chances of presence very high, majorly because of placental effect on shading more DNA fragments. On the other hand, the false negatives take into account 98 of the 100 babies with Down’s syndrome due to earlier administration of the test in the gestational period, technical factors and cell growths that occur in the placenta lining.

Consistent with Piechan, Julie, (2016), amniocentesis is 99.4% which can be at times influenced by ineffective technical issues that occur in sample collection for testing or the incapacitation of the cells to grow on culture. In all the merits lies the risk too, amniocentesis can lead to a miscarriage mostly 1 in 200 or 1 in 400, it can also cause baby injury, mother’s infection or even premature births.NIPT being a privately offered service and highly effective thus the physicians recommend it unto clients by use of posters that enlighten the people in the health facility and the doctors’ private offices. Health societies also recommend it to women with higher average risk trisomy 13, 18, and 21. Considering NIPT, its ethical values can be grouped based on choice, autonomy, and consent; the avoidance of harm; equity, fairness, and inclusion. The values can either have positive or negative implications on NIPT in different manners for disabled women, and women with fetuses to be, as researched by Tamminga, Saskia, et al. (2015).In choice, autonomy, and consent, the positive implication is that it can improve reproductive freedom differently such as giving women or couples an opportunity to prepare for their newborn with genetic conditions or deciding to terminate the pregnancy at an early stage. On the negative side, autonomy and choice can be compromised if accurate and balanced information about the test cannot be available.

According to avoidance of harm, NIPT can reduce dangers in women and the unborn babies in a way that it reduces the need for invasive testing, Smith, Meagan, et al., (2014). On the other hand, it can bring about anxiety and more invasive procedures as results that are inaccurate and unreliable are returned. Again, on equality, fairness, and inclusion, NIPT can give women an excellent opportunity to decide on the circumstances of the pregnancy thus generally bringing about equity for women.  However, it may also bring about the notion that people should be blamed for giving birth to babies with disabilities thus bringing about stigma to the disabled. Media plays an essential role in persuasion and health education. It publicizes matters dealing with health thus giving people the confidence to take the needed prescriptions accordingly.  It also emphasizes the various health education portrayed.The number of children born with Down syndrome in Canada is relatively higher, due to the cost of NIPT test which is quite non-affordable. The alternative amniocentesis is also high in price; hence most women give birth to abnormal children without their knowledge. A more significant percentage of women would prefer terminating pregnancy rather than giving birth to children with Down syndrome since it affects the children’s self-esteem. There is a peer-reviewed article on the NIPT test which its original manuscript was submitted on 9^th October 2018 and reviewed on 25^th October 2018 by Gloria Giarratano.

Critique of the Article

The research was conducted by Kelly Grant with interest in NIPT to prevent giving birth to children with Down syndrome. The study was conducted majorly to enlighten public on the importance of NIPT. The article was pertinent only within the author’s geographical location; Canada hence does not have global relevance. When the article was reported, several laboratories also pursued similar research because NIPT was a matter of importance then. PEGASUS project done by Ontario and British was able to meet the funding of the project whereby the topic was chosen was of relevance to the funding project. The research was majorly based on the prior observation of children born with Down syndrome in Canada, in which knowing the condition as early as 10weeks was still unclear before the introduction of NIPT. The doctors were only discovering the Down syndrome condition in the second trimester, whereby abortion was not that easy in Canada.

The research question was therefore crucial as it dealt with the current issues affecting the public. The title of the research is short and precise, precisely giving only the keywords that communicate the main points in the article and simply briefs on the ideas of the message in the section. The title appears catchy, giving an interest in reading the paper. The author of the article is Kelly Grant, the health reporter and the article has been cited in more than 5 journals. The report has not defined the experimental design used and the external and internal validity of the samples. The introduction is short and informative. It has also given the context by summarizing the simple blood tests and provided the context of the article before the identification. The introduction, however, has not introduced the knowledge gap and the approach used is also not explained. The experimental procedure of the blood tests are not, and subheadings have not been used. The ethic clearance was obtained whereas the source of laboratory apparatus for testing placental samples was not outlined. The author has not briefed on the procedure for NIPT. The tests used are valid and reliable, and limitations are well described. The results of the tests were merely explained and not displayed in any form of data presentation. The author has discussed the results extensively with an active voice; hence the conclusion is authoritative. The judgment ended abruptly leaving the reader in suspense.

Conclusion

The article has both weaknesses and strength in which some are outlined in the critique. However, the advantage of the paper outweighs the flaws. The author has shown his expertise in the area studied with a lot of experience and in-depth research; hence the fair outcome of the article. The article has been cited by different authors writing on the related topic due to its informative nature.

Work cited

Akolekar, Ranjit, et al. “Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis.” Ultrasound in Obstetrics & Gynecology 45.1 (2015): 16-26.

Brady, Paul, et al. “Clinical implementation of NIPT–technical and biological challenges.” Clinical Genetics 89.5 (2016): 523-530.

Farrell, Ruth, et al. “It’s more than a blood test: patients’ perspectives on noninvasive prenatal testing.” Journal of clinical medicine 3.2 (2014): 614-631.

Hill, Melissa, et al. “Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable, accurate prenatal non-invasive diagnosis (RAPID) protocol.” BMC pregnancy and childbirth 14.1 (2014): 229.

Piechan, Julie L., et al. “NIPT and informed consent: an assessment of patient understanding of a negative NIPT result.” Journal of genetic counseling 25.5 (2016): 1127-1137.

Sachs, Amy, et al. “Recommended pre‐test counseling points for noninvasive prenatal testing using cell‐free DNA: a 2015 perspective.” Prenatal diagnosis 35.10 (2015): 968-971.

Smith, Meagan, et al. “A case of false negative NIPT for Down syndrome-lessons learned.” Case reports in Genetics 2014 (2014).

Tamminga, Saskia, et al. “Changing to NIPT as a first‐tier screening test and future perspectives: opinions of health professionals.” Prenatal Diagnosis 35.13 (2015): 1316-1323.

Van Schendel, Rachel V., et al. “NIPT‐based screening for Down syndrome and beyond: what do pregnant women think?” Prenatal diagnosis 35.6 (2015): 598-604.

Willems, P. J., et al. “The first 3,000 non-invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands.” Facts, views & vision in ObGyn 6.1 (2014): 7.

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