Amniocentesis: Benefits and Risks

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Table of Contents

Abstract
Introduction
The Issue
Current Practice
Procedure
Key issue: Ethical and legal influence
References

Abstract

The purpose of this research was to evaluate the risks and benefits associated with amniocentesis. In addition, it also showed current guidelines for amniocentesis available to healthcare workers in Canada. The study established that amniocentesis was beneficial for identifying deformities in a fetus and other related conditions. However, several challenges, including fetal loss after amniocentesis and other complications were associated with the procedure. In addition, current practices offer serious ethical and legal issues because of these risks. Patients should be sufficiently informed about the risk-benefit outcomes of this procedure.

However, new technologies like cell-free fetal DNA (cffDNA) could provide better alternatives with improved outcomes.

Patients and physicians must observe ethical and legal concerns as they opt for amniocentesis prenatal tests. These issues have continued to become multifaceted as new technologies present new forms of ethical and legal concerns.

Introduction

The purpose of this paper is to explore the amniocentesis prenatal test. It shows both benefits and risks associated with the test and current clinical guidelines for the test in Canada. In addition, the paper will critically review one of the articles used in the research.

The diagnosis is associated with certain benefits such as detecting birth defects and chromosomal abnormality.

The prenatal test presents clinically significant risks to the patient and the unborn baby. Consequently, it is mainly provided to mothers who present significant genetic threats and diseases to their babies. In addition, the test could be unsuccessful because of technical challenges related to the inadequacy of fluid collected or cell failure during culture processes.

The Issue

Chodirker et al. (2001) defined amniocentesis as an “ultrasound-controlled invasive prenatal diagnosis procedure normally done after 14 weeks gestational age to identify fetal karyotype, molecular, and biochemical abnormalities” (p. 2). The amniocentesis test is significant for identifying any abnormalities in unborn babies. For instance, when the amniotic fluid level is high, then the fetus faces significant risk and delivery should be an alternative (Kenyon, Abi-Nader, & Pandya, 2010).

However, not all cases of prenatal tests are successful. For instance, there are several risks associated with the test. These include fetal loss after amniocentesis, risks of infection, serious fetal injuries, and minor complications related to continued leakage of amniotic fluid, bleeding, and uterine irritability (Chodirker et al., 2001; Nuccio et al., 2014). In addition, amniocentesis clinical test results are not readily available and may take up to 20 weeks of gestational period. Therefore, in case of genetic abnormalities that require immediate termination of pregnancy, the procedures of termination are extremely risky, both physically and emotionally to the mother in this late period of gestation (Chodirker et al., 2001).

Further, a study by El-Hage, Léger, Delcuze, Giraudeau, and Perrotin (2012) showed that amniocentesis was linked with higher affective adaptive reactions, which tended to return to a normal state as the pregnancy progresses.

Current Practice

There are best practices such as effective procedure planning and prevention of complications for amniocentesis to prevent adverse outcomes.

Best practices include sterility of the entire procedure to avoid fetal infection through amniotic fluid contamination and contaminated equipment. Physicians must observe the fetal heart rates of their patients before and after amniocentesis. It is imperative to understand the risk of the procedure against potential benefits.

Physicians who conduct amniocentesis procedures must obtain written consent about the test, expectations, complications, and drawbacks. In addition, they must also monitor possible fetal puncture, premature labor, infection, and miscarriage.

Normally, it is vital to perform genetic amniocentesis procedures earlier enough to give women opportunities to terminate pregnancy in the early stages of gestation. This should not exceed 20 weeks. This is vital to eliminate cases of miscarriage and fetal deformities. Hence, it is necessary to perform the procedure early enough, but other causes can be conducted during later periods.

Currently, physicians apply a real-time ultrasound technique for amniocentesis. As a result, they can directly focus the needle toward the amniotic fluid and eliminate possible damages to other organs. This is necessary to avoid post-procedure bleeding of the fetus. Placental insertion should be avoided but may be difficult in some cases and therefore other areas with blood vessels should be avoided.

Traditionally, there are cases of miscarriage after amniocentesis. The ratio has been 1 to 200. However, in recent times, studies have shown that there are significant improvements and the ratio is 1 to 1000 (Roca & Ural, 2013). Some risk factors such as “amniocentesis before 15 weeks gestation, use of large needles, multiple attempts, and unrecognized chorioamnionitis post-procedure” (Roca & Ural, 2013) have been identified as greater causes of miscarriage. In addition, challenges associated with talipes equinovarus increase when the procedure is conducted earlier than 15 weeks of gestation. Thus, amniocentesis timing is critical for any patient.

In addition, there are also reported cases of maternal viral transmission, specifically HIV and hepatitis B from the mother to the fetus (Simões et al., 2013). Risks for HIV were associated with the failure of the mother not taking antiretroviral while hepatitis B was mainly transmitted during amniocentesis procedures (Yi et al., 2014). Therefore, mothers must undergo counseling on the risk-benefits of the amniocentesis before consenting to the procedure.

Canadian Amniocentesis Guideline

Currently, Canada uses amniocentesis guidelines developed in the year 2001. The guideline identifies the procedure; timing; added risk of miscarriage; fetal malformation risks; chance of successful sampling; time required for cytogenetic diagnosis; accuracy; mosaicism; and open neural tube defects (Chodirker et al., 2001).

Procedure

Ultrasound is conducted before the amniocentesis procedure to determine various characteristics of the fetus such as age, location, placenta location, fluid volume, and cardiac activities among others. In addition, other factors related to fibroids must also be determined. The procedure may entail a more detailed assessment based on the capabilities of hospitals.

Physicians must understand when to insert the needle without causing damage to the fetus’ organs, especially the placenta because of risks and complications.

Key issue: Ethical and legal influence

Amniocentesis could be a high-risk procedure for women. Hence, physicians and the patient must agree on issues of written consent. In most cases, the prenatal procedure is associated with several risks both to the baby and to the mother. Hence, the physicians who conduct the procedure must obtain written consent on the test, expectations, complications, and drawbacks. In addition, the procedure requires thorough monitoring of possible fetal puncture, premature labor, infection, and miscarriage.

As new technologies emerge for non-invasive prenatal genetic diagnosis, patients and physicians must understand both ethical and legal concerns (Dickens, 2014). For instance, the new cell-free fetal DNA (cffDNA), which works by isolating cells, will allow physicians to conduct non-invasive diagnoses, but it raises several ethical and legal concerns.

Such non-invasive tests may be safe and reliable and therefore patients may opt for them rather than the normal amniocentesis that is associated with several adverse outcomes, including infections and abortion.

Nevertheless, the safety and reliability offered by these advancements in medical technologies cannot eliminate ethical and legal concerns. In fact, cffDNA testing would present new ethical and legal concerns if “testing expands to fetal whole-genome sequencing” (Dickens, 2014, p. 181). Some of the issues that patient would want to understand will include “the state of the science or diagnostic art; the appropriateness of offering the test; the implications of denying the test when it is available and appropriate; disclosure and counseling following test results; and management of patients’ choices on acquiring test results” (Dickens, 2014, p. 181). As a result, new forms of ethical and legal concerns will rise, and this requires physicians and patients to understand counseling issues and patients’ improved knowledge on medication and legal issues.

Recommendations related to current practices

Amniocentesis is beneficial for detecting deformities in fetuses. However, it is a risky procedure for both the mother and the baby (Nuccio et al., 2014). Important factors, as identified in the clinical guideline, should be observed before the procedure. In addition, patients must be thoroughly assessed to determine if the procedure is necessary. Most importantly, amniocentesis prenatal tests should not be conducted on several occasions.

However, new technologies such as cffDNA testing offer highly reliable and safe alternatives to current practices. Hence, physicians must adopt them.

However, ethical and legal issues remain major concerns for all stakeholders. It is therefore important for the physician and patient to understand issues of informed consent during these procedures.

Critical Article Appraisal

The article, Amniocentesis, Maternal Psychopathology and Prenatal Representations of Attachment: A Prospective Comparative Study, was chosen for critical appraisal.

The authors identified the purpose as “characterizing the maternal dimensions of anxiety, depression and prenatal attachment in women undergoing an amniocentesis” (El-Hage et al., 2012, p. e41777).

There was no research question presented to readers, but there were 41 study questions, which lasted between 60 and 90 minutes (El-Hage et al., 2012, p. e41777). In addition, a prospective observational study was conducted to achieve the objective of the study. Furthermore, there were clinical interviews to gather data on social, demographic characteristics, and addiction tendencies. Participants completed self-reported questionnaires on “stress, depression, anxiety and dissociation” (El-Hage et al., 2012, p. e41777). Finally, attachment cases were evaluated.

The study methodology was presented. A prospective observational study was used in which study participants were identified based on specific inclusion criteria, including the age of gestation. The study design was based on a cohort study. The participants were followed for 30-45 days postpartum. The study was monocentric conducted at CHRU de Tours, France where all participants were included in a single unit.

The study sample consisted of 392 pregnant women from whom data were analyzed. A single participant did not complete the study because of the discovery of cardiac malformation in the stage of her pregnancy (El-Hage et al., 2012, p. e41777). In addition, participants who missed over three cases were not included in the final analysis.

To achieve reliability and validity, study instruments were carefully designed to collect relevant data. For instance, only variables that reflected maternal representations of attachment, history of traumatic events, and clinical signs were collected.

The authors declared no research bias in the study.

The study results indicated that the “maternal representations of attachment were well-integrated and balanced, but the amniocentesis group experienced significantly more mother-directed representations” (El-Hage et al., 2012, p. e41777).

The study outcomes showed that amniocentesis was linked to increased emotional adaptive reactions that tended to revert to normal status during pregnancy (El-Hage et al., 2012, p. e41777).

References

Chodirker, N., Cadrin, C., Davies, G., Summers, A., Wilson, R., Winsor, E., & Young, D. (2001). Canadian Guidelines for Prenatal Diagnosis: Techniques of Prenatal Diagnosis. Web.

Dickens, B. (2014). Ethical and legal aspects of noninvasive prenatal genetic diagnosis. International Journal of Gynecology & Obstetrics, 124(2), 181-4. Web.

El-Hage, W., Léger, J., Delcuze, A., Giraudeau, B., & Perrotin, F. (2012). Amniocentesis, Maternal Psychopathology and Prenatal Representations of Attachment: A Prospective Comparative Study. PLoS ONE 7(7), e41777. Web.

Kenyon, A., Abi-Nader, K., & Pandya, P. (2010). Pre-Term Pre-Labour Rupture of Membranes and the Role of Amniocentesis. Fetal and Maternal Medicine Review 21(2), 75. Web.

Nuccio, R., Hashmi, S., Mastrobattista, J., Noblin, S., Refuerzo, J., Smith, J., & Singletary, C. (2014). Influence of Anchoring on Miscarriage Risk Perception Associated with Amniocentesis. Journal of Genetic Counseling. Web.

Roca, P., & Ural, S. H. (2013). Amniocentesis. Medscape. Web.

Simões, M., Marques, C., Gonçalves, A., Pereira, A., Correia, J., Castela, J., & Guerreiro, C. (2013). Amniocentesis in HIV Pregnant Women: 16 Years of Experience. Infectious Diseases in Obstetrics and Gynecology, 2013(2013), 5. Web.

Yi, W., Pan, C., Hao, J., Hu, Y., Liu, M., Li, L., & Liang, D. (2014). Risk of vertical transmission of hepatitis B after amniocentesis in HBs antigen-positive mothers. Journal of Hepatology, 60(3), 523-9. Web.

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