PSY FPX 6010 Assessment 1 Noninvasive Prenatal Testing Overview

PSY FPX 6010 Assessment 1 Noninvasive Prenatal Testing Overview

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Capella University

PSY FPX 6010 Human Prenatal Development

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Date

General Information

The health of a fetus is a primary concern for all parties involved during pregnancy. One method to assess health risk factors for a fetus is through genetic and chromosomal testing while still in utero. Numerous genetic tests are available, both invasive and noninvasive, including preimplantation genetic diagnosis, maternal blood screening, fetal echocardiography, amniocentesis, chorionic villus sampling, percutaneous umbilical blood sampling, and ultrasound scans (Gross, 2019). Noninvasive prenatal testing (NIPT) has been widely utilized since 2011 to evaluate the increased or decreased risks of a fetus being born with specific genetic abnormalities without posing a risk to the fetus. If abnormalities are detected, fetal therapy may be employed to correct defects or prevent complications after birth in certain cases (Gross, 2019). NIPT is favored due to its low risk for both the mother and baby, the accuracy of screening results, and the early timing of the test. It is important to note that NIPT does not diagnose genetic abnormalities but rather indicates an increased risk for certain conditions (Montgomery & Thayer, 2020).

Description of NIPT

NIPT analyzes cell-free DNA, which involves examining small fragments of DNA found in a pregnant woman’s blood. Consequently, the initial risk for both the mother and baby is comparable to that of a routine blood draw (Montgomery & Thayer, 2020). The most commonly detected risks through NIPT include trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) (Samura, 2020). These common conditions have detection rates of 95% or higher, with trisomy 21 being approximately 99.5% accurate (Samura, 2020), contributing to the test’s widespread acceptance. In addition to identifying these risks, the test can also reveal the sex of the fetus. NIPT can be conducted during the first trimester, around 10 weeks of gestation (Montgomery & Thayer, 2020).

In addition to its low risk factors, accuracy, and timing, NIPT offers several psychological benefits (Kater-Kuipers et al., 2018), although many of these benefits come with potential drawbacks. The reassurance provided by a negative result can alleviate stress and anxiety for parents during pregnancy, which is a significant advantage for both the mother and fetus. However, this can also lead to false reassurance, as the test is not 100% accurate and cannot screen for every possible health risk to a fetus. It is essential to recognize that accuracy can vary, and false negatives, false positives, and inconclusive results are possible with NIPT screening (Samura, 2019). While these occurrences are rare, they can have serious implications.

PSY FPX 6010 Assessment 1 Noninvasive Prenatal Testing Overview

Another advantage of NIPT is that it allows parents additional time to prepare for a child who may require extensive medical care before birth, thereby improving the quality of care provided. This preparation enables parents to discuss their options, consult specialized doctors, and ready themselves and their families for the birth and any necessary lifestyle adjustments. It also allows healthcare providers to monitor pregnant women more closely if their test results categorize them as high-risk for complications or miscarriage. However, this benefit can also lead to difficult decisions regarding pregnancy termination. Pregnant women may find themselves facing choices they did not anticipate or desire. Without NIPT, many women would remain unaware of potential abnormalities before birth and would be less likely to consider selective abortion if the pregnancy was planned or wanted. It has been suggested that termination based on test results may also have negative consequences (Kater-Kuipers et al., 2018).

Another limitation is that many private insurance plans do not cover NIPT for women under 35 who are considered low-risk. In the United States, the average cost of the test is $279, with prices ranging from $99 to $2,000. The lack of insurance coverage is concerning, as most babies with aneuploidy (missing or extra chromosomes) are born to low-risk women (Benoy et al., 2021).

The Genetic Counselor

Many women seek counseling after receiving test results but may not fully understand the potential implications of a positive result prior to testing. The counseling and information provided to pregnant women by their healthcare providers before testing can vary significantly. This highlights the importance of genetic counselors. There exists a potential ethical dilemma regarding societal pressure surrounding NIPT. If women feel compelled to justify their decision to decline a simple and reliable test, the resulting stress could threaten their reproductive autonomy (Kater-Kuipers et al., 2021). Negative test results suggest that the fetus has a reduced risk of a specific genetic condition, while positive results indicate an increased risk of the condition.

Studies show that short-term anxiety decreased when women received negative NIPT results (Labonté et al., 2019). Receiving positive results, however, comes with many pressures and decisions. These include grief, trauma, financial stress, marital issues, sibling issues, maternal issues, social issues, and more (Azri et al., 2014). One way for pregnant mothers to receive counseling including the potential risks, benefits, and limitations of testing is through genetic counseling. Genetic counselors are trained to use family history to help determine which, if any, genetic tests are recommended. If a risk factor is found during pregnancy, genetic counselors can help weigh the risks and help parents make decisions regarding the health of the fetus, treatment options, emotional concerns. They can also refer parents to advocacy and support groups as necessary.

Conclusion

NIPT is a safe and reliable noninvasive test to use during pregnancy. Especially for high-risk pregnancies, NIPT can ease anxiety around the health of a fetus. However, there are other emotional complications that can arise depending on screening results. Above all else, patients need to be informed, potentially with the help of a genetic counselor, and independently make their decision regarding testing of any kind.

References

Azri, S., Larmar, S., & Cartmel, J. (2014). Social work’s role in prenatal diagnosis and genetic services: Current practice and future potential. Australian Social Work, 67(3), 348–362. https://doi.org/10.1080/0312407X.2013.848914

Benoy, M. E., Iruretagoyena, J. I., Birkeland, L. E., & Petty, E. M. (2021). The impact of insurance on equitable access to non-invasive prenatal screening (NIPT): private insurance may not pay. Journal of Community Genetics, 12(1), 185-197. https://doi.org/10.1007/s12687-020-00498-w

Gross, D. (2019). Infancy: Development from birth to age 3 (3rd ed.). Rowman & Littlefield.

Kater-Kuipers, A., Bakkeren, I. M., Riedijk, S. R., Go Attie, T. J. I., Polak, M. G., Galjaard, R. H., & Bunnik, E. M. (2021). Non-invasive prenatal testing (NIPT): Societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes. European Journal of Human Genetics: EJHG, 29(1), 2-10. https://doi.org/10.1038/s41431-020-0686-9

PSY FPX 6010 Assessment 1 Noninvasive Prenatal Testing Overview

Kater-Kuipers, A., Bunnik, E. M., de Beaufort, I. D., & Galjaard, R. (2018). Limits to the scope of non-invasive prenatal testing (NIPT): An analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals. BMC Pregnancy and Childbirth, 18(1), 409. https://doi.org/10.1186/s12884-018-2050-4

Labonté, V., Alsaid, D., Lang, B., & Meerpohl, J. J. (2019). Psychological and social consequences of non-invasive prenatal testing (NIPT): A scoping review. BMC Pregnancy and Childbirth, 19(1), 385. https://doi.org/10.1186/s12884-019-2518-x

Montgomery, S., & Thayer, Z. M. (2020). The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT). BMC Pregnancy and Childbirth, 20, 1-14. https://doi.org/10.1186/s12884-020-03203-4

Samura, O. (2020). Update on noninvasive prenatal testing: A review based on current worldwide research. The Journal of Obstetrics and Gynaecology Research, 46(8), 1246-1254. https://doi.org/10.1111/jog.14268