doi: 10.56294/mw202338

REVIEW

Ethical considerations in prenatal diagnosis and genetic counseling

Consideraciones éticas en el diagnóstico prenatal y el asesoramiento genético

Noel Taboada Lugo¹ *

¹Universidad de Ciencias Médicas de Villa Clara. Villa Clara, Cuba.

Cite as: Taboada Lugo N. Ethical considerations in prenatal diagnosis and genetic counseling: Ethical considerations in prenatal diagnosis and genetic counseling. Seminars in Medical Writing and Education. 2023;2:38. https://doi.org/10.56294/mw202338

Submitted: 01-09-2023                   Revised: 16-11-2023                   Accepted: 22-12-2023                 Published: 23-12-2023

Editor: Prof. Dr. José Alejandro Rodríguez-Pérez

Tematic Editor: PhD. Carlos Singh Castillo

Note: Article presented at the IX International Conference on Ethics and Bioethics (ETHOS 2023).

ABSTRACT

Introduction: prenatal diagnosis, as the world widest spread reproductive option, refers to fetus health research methods. Fetal life congenital malformation detection and allowing termination of pregnancy are among its main objectives. An ethical approach, based on respect for people and for confidentiality, avoiding hurt and respecting autonomy, is the key towards optimum genetic counseling.

Objective: to set out some ethical considerations in medical genetics health care practice starting from bioethics fundamental principles, which are linked to prenatal diagnosis and to the genetic counseling process.

Results: since dealing with issues related to these ethical aspects in medical genetics practice is a relatively new subject that has been influenced by the development of bioethics and the solution to ethical and social dilemmas in medical practice.

Conclusions: in the field of prenatal diagnosis some ethical, social and juridical conflicts could be presented, for that reason doctors should apply on their professional exercise the bioethical principles of autonomy, justice, beneficence and not maleficence, which constitute the main rules that regulate their conduct and give then the basis for the reasoning and orientation for their actions during the genetic counseling process. 

Keywords: Medical Ethics; Bioethics; Prenatal Diagnosis; Genetic Counseling.

RESUMEN

Introducción: el diagnóstico prenatal como opción reproductiva más difundida a nivel mundial se refiere a métodos para investigar la salud del feto. Entre sus objetivos está la detección de malformaciones congénitas en la vida fetal y permitir la interrupción del embarazo. Un enfoque ético, basado en el respeto por las personas y a la confidencialidad, evitando el daño y respetando la autonomía, son las claves de un asesoramiento genético óptimo.

Objetivo: exponer algunas consideraciones éticas en la práctica asistencial de la genética médica, a partir de los principios fundamentales de la bioética vinculados al diagnóstico prenatal y al proceso de asesoramiento genético.

Resultados: Los aspectos éticos en la práctica de la genética médica constituyen una temática relativamente joven que ha estado influida por el desarrollo de la bioética y la solución de los dilemas éticos y sociales en la práctica médica.

Conclusiones:  en el campo del diagnóstico prenatal se pueden llegar a plantear conflictos éticos, sociales y jurídicos de compleja resolución, por lo que el médico debe aplicar en su ejercicio profesional los principios bioéticos de autonomía, justicia, beneficencia y no maleficencia, que constituyen las normas fundamentales que gobiernan su conducta, lo cual proporciona la base para el razonamiento y la orientación a sus acciones en el proceso de asesoramiento genético. 

Palabras clave: Ética Médica; Bioética; Diagnóstico Prenatal; Asesoramiento Genético.

INTRODUCTION

One of the most extraordinary achievements of modern science is in the area of medical genetics. This field has made significant progress in a relatively short time. Technological innovations in the field of prenatal diagnosis (PND) may raise ethical, social, and legal conflicts that require careful resolution.^(1,2,3)

Certainly, PND and selective abortion are considered primary ethical dilemmas in medical genetics and genetic services. A group of experts assembled by the World Health Organization (WHO) created a set of global guidelines to aid regional and national decision-makers in safeguarding families affected by genetic diseases or congenital defects. These guidelines aim to recognize the significant advances in medical genetics in public health and to develop policies ensuring that these applications are accessible to all and implemented with due respect for ethics and justice worldwide.⁽⁴⁾

In 1975, the American Society of Human Genetics defined genetic counseling as a communication process that addresses human issues related to the occurrence or risk of recurrence of a hereditary disease or congenital defect in a family.⁽⁴⁾

The main goal is to help affected families understand congenital defects and the genetic mechanisms involved. This will enable prospective parents to make informed decisions about their offspring. It involves trained individuals assisting patients and their families in understanding medical facts, including diagnosis, disease natural progression, and available care or treatment. Patients then choose a course of action based on their risks and goals, and act accordingly.⁽⁵⁾

The WHO has proposed guidelines for genetic counseling from an international perspective. These guidelines include:

· Medical genetics services should be available based on medical needs, regardless of economic status.

· Genetic services, including testing and counseling, should be voluntary.⁽⁵⁾

The WHO proposal did not reach unanimous agreement among professionals due to ethical issues in medical genetics. These issues include elective termination of pregnancy following PND, options in assisted reproduction, and the status of the human embryo in genetic research. These topics are highly debated.
Currently, a consensus has not been reached.

A review was conducted to present ethical considerations in clinical practice of medical genetics. It is based on fundamental principles of bioethics related to prenatal diagnosis and genetic counseling process. 

DEVELOPMENT

PND has revolutionized pregnancy management by allowing health-related actions to be taken before birth. Intrauterine detection of many congenital defects is now possible, eliminating the need to wait until birth. This has led to new dilemmas in the field of bioethics, including the legalization or decriminalization of abortion in cases where the fetus has a congenital malformation that may compromise its life.⁽⁵⁾

The WHO`s Declaration on Ethics and Genetic Services states that PND should only be performed for reasons related to the health of the fetus and should be offered regardless of the couple's stance on elective termination of pregnancy. However, it is important to note that these principles may not be applicable in all contexts and may not provide solutions to all problems. Therefore, the debate continues.⁽⁶⁾

PND has been conducted for several decades using ultrasound. This method is considered "non-invasive" and does not present complications. It also supports the implementation of other techniques, such as amniotic fluid extraction (amniocentesis) or obtaining a small fragment of the placenta (chorionic villus sampling), which directly study fetal cells.

These techniques are known as "invasive" and can result in complications, including pregnancy loss in about 0,5 % to 1 % of patients. 

PND raises ethical, moral, and philosophical questions that are difficult to resolve and depend on individual perspectives. Couples with a high risk of genetic disease or congenital defects should be offered PND to make the decision they consider best for themselves and their future plans.^(4,7)

Bioethics is a powerful moral and legal tool. Its objective is to establish a moral and creative framework that supports every new advance in scientific knowledge for the benefit of individuals and the preservation of health and life. At the same time, it considers the human being in their close relationship with environmental factors such as nature, culture, religion, politics, and society, respecting the individuality and the potential scenarios.⁽⁶⁾

In the vast majority of cases, PND reassures parents about the fetus's optimal health. However, in the remaining cases, the demand for PND presents a difficult decision: whether to continue the pregnancy with a fetus that has severe congenital defects or to interrupt the pregnancy when serious congenital malformations are diagnosed.
The right to decide who lives and who does not through eugenic abortion is what has sparked an ethical debate surrounding PND.^{(6,7,8,9,10,11,12)}

Despite significant scientific and technological progress, the instances where effective prenatal or postnatal therapies can be implemented remain highly limited. Unfortunately, in most cases of severe congenital malformation, parents are left with the difficult decision of either preparing for the care of an ill child or choosing to voluntarily terminate the pregnancy.

The WHO recommends that institutions offering PND have a team of specialists capable of addressing all aspects of the techniques and procedures used. Additionally, those institutions should have the possibility and capacity, both medically and legally, to address the issue in case the diagnosis and the parents' decision lead to the termination of the pregnancy.^(8,13)

These circumstances transform PND into something that goes beyond a mere set of medical techniques or procedures. Moreover, they place it at the center of an intense ethical, social, and legal debate, as there are many countries where abortion is illegal. The WHO believes that countries that prohibit the termination of pregnancies with fetal conditions or diseases should review the conditions under which PND is provided. 

Providing PND without the option of safe and accessible abortion may lead some women to resort to illegal and unsafe abortion. The unquestionable prohibition of abortion contradicts the premise of PND, which is to offer individuals reproductive options. A professional performing PND in a country where abortion is illegal is obligated to provide support to the woman whose pregnancy presents abnormalities. In countries where abortion is illegal, doctors performing PND should provide the woman with assistance and support regarding her options after receiving the results.⁽⁸⁾ 

It is necessary to affirm that using PND to decide on the life or death of the fetus is not ethically acceptable. However, the fact that abortion is not accepted as a solution to a possible adverse result does not make PND a useless or discouraged method, as there are other reasons for performing it, such as to reassure the couple about the risk of any malformation, to indicate the best way and place to deliver, or to prepare the couple to cope with the arrival of a sick child.

When providing genetic counseling to a couple and informing them of a major congenital defect found in any of the PND tests, the approach should always be non-directive. The beliefs and cultural background of the families should be respected. Genetic counselors should refrain from giving directives, suggestions, or implying their own beliefs to the parents. The parents should make their own decisions after undergoing a process of understanding the risks, their own needs, values, and expectations.^(4,6,8)

“Approach” refers to the genetic counselor´s stance. Typically, there are two recognized types of approaches in genetic counseling: directive and non-directive. The directive approach stems from the fact that in most countries, genetic counselors are physicians. Physicians often give therapeutic directives to their patients, who rely on them for guidance. The potential danger of this approach is that physicians may unconsciously insinuate their own religious, political, or eugenic ideas, which could impact the patient's decision-making process.⁽⁴⁾

The non-directive approach involves providing all available information and assisting the patient while remaining impartial and objective during decision-making process. Parents should be presented with the available options in a non-directive manner, allowing them to make a decision that aligns with their ethical principles and way of thinking. Several studies have demonstrated that parents' decisions are significantly influenced by directive counseling. Therefore, it is recommended to avoid it.^{(4,6,13,14,15,16)}

In a study conducted by Gould and colleagues in the United States, 99 % of the women who received counseling were informed that they would receive support regardless of the decision they made. 3 % of the participants reported feeling encouraged to have an abortion, while less than 1 % reported feeling discouraged from having one. The week following the procedure, 95 % of participants believed they had made the correct decision and reported that counseling had been beneficial. Only 4 % of participants did not find it helpful.⁽¹⁷⁾

Genetic counseling is the most effective tool for preventing genetic diseases and congenital defects. When designing the implementation of genetic counseling, it is important to consider the ethical and bioethical principles reflected in medical ethics.^(4,14)

An ethical approach based on the respect for individuals, confidentiality and autonomy, while also preventing harm, is the cornerstone of optimal genetic counseling.^(4,14)

CONCLUSIONS

In the field of prenatal diagnosis, ethical, social, and legal conflicts that require careful resolution may arise. Physicians must adhere to bioethical principles such as autonomy, justice, beneficence, and non-maleficence in their professional practice. These principles serve as fundamental norms for their conduct, providing a foundation for reasoning and guiding actions in the genetic counseling process. 

REFERENCES

1. Nussbaum RL, Mc Innes RR, Huntinton FW. Genetics aspects of development. In: Thompson & Thompson’ Genetics in Medicine. Philadelphia: Saunders; 2001.pp. 355- 582. 

2. Wertz D, Fletcher JC, Berg K. Summary statements on ethical issues in medicalgenetics. Hereditary diseases Program. Ginebra: OPS; 1995. pp. 20-25.

3. Mahowald MB. Conflicto materno fetal: situaciones y principios. Clin Obst Ginecol [Internet]. 2012 [citado 2 agosto 2023];35(4):14-25 Disponible en: https://journals.lww.com/clinicalobgyn/Citation/1992/12000/Maternal

4. Rojas BI. Aspectos éticos del asesoramiento genético y de la genética médica. En: Lantigua CA. Introducción a la Genética Médica. La Habana: Editorial Ciencias Médicas, 2da Edición, 2011; pp.368- 372.

5. OMS. Anomalías congénitas. [Internet].2015 [citado 2 agosto 2023]; Nota descriptiva No.370. Disponible en: http://www.who.int/mediacentre/factsheets/fs370/es/

6. Sánchez AP, Martínez P, Chaviano M. Senderos en la perspectiva latinoamericana y cubana de la bioética. En: Díaz FA et al. Selección de artículos de Filosofía, sociedad y salud. La Habana: Editorial Ciencias Médicas; 2011.p.279-2866.  

7. Villela Cortes F, Linares Salgado JE. Diagnóstico genético prenatal y aborto. Dos cuestiones de eugenesia y discriminación. Rev Bioética y Derecho [Internet]. 2012 [citado 2 agosto 2023];24(1). Disponible en: http://revistes.ub.edu/index.php/RBD/article/view/76027.  

8. Meethal SV, Hogan KJ, Mayanil CS, Iskandar BJ. Folate and epigenetic mechanisms inneural tube development and defects. Childs Nerv Syst 2013; 29(9):1427-338

9. Flores Rodríguez JL, Flores Albor YM. Precisiones teórico-metodológicas para la comprensión de la ética y la bioética médica. Rev Hum Med [Internet]. 2014 [citado 2 agosto 2023];14(2) Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-8120201400020000910. 

10. Rojas BI. Prevención de las enfermedades genéticas y asesoramiento genético. En: Lantigua CA. Introducción a la genética médica. La Habana: Editorial Ciencias Médicas2011; pp.342-37212. 

11. Oliva RJA. Diagnóstico ultrasonográfico de malformaciones fetales. En: Ultrasonografía diagnóstica fetal, obstétrica y ginecológica. La Habana: Editorial Ciencias Médicas 2010; pp.3-1813. 

12. Betancourt GJ. Limitación del esfuerzo terapéutico y principios bioéticos en la toma de decisiones. Rev Hum Med [Internet]. 2014;14(2) [citado 2 agosto 2023]; Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S172781202014000200011

13. López Baños L, Fernández Pérez Z, García Baños LG, García Cartaya Z. Dilemas bioéticos del diagnóstico prenatal. Rev Cubana Obstet Ginecol [Internet]. 2013; 39(3) [citado 2 agosto 2023]; Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0138-600X201300030000718.  

14. Lantigua CA, Martínez de Santelices CA. Programas de prevención de enfermedades genéticas. En: Lantigua CA. Introducción a la genética médica. La Habana: Editorial Ciencias Médicas 2011; p.373-40119.

15. Ribot RVC, García TC. Códigos éticos y deontológicos en Psiquiatría. Rev Hum Med[Internet]. 2016; 16(2) [citado 2 agosto 2023]; Disponible en: http://scielo.sld.cu/scielo.php?pid=S1727-81202016000200012&script=sci_arttext&tlng=pt20. 

16. Malamud Herrera S. Diagnóstico genético preimplantatorio y eugenesia. Análisis ético–jurídico. Rev colombiana bioética [Internet]. 2015; 8(1) [citado 2 agosto 2023]; Disponible en: http://bases.bireme.br/cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&src=google&base=LILACS&lang=p&nextAction=lnk&exprSearch=750268&indexSearch=ID

17. Gould H, Foster D, Perrucci A, Barar R, Roberts C. Predictors of abortion counseling receipt and helpfulness in the United States. Women’s Health Issues 2013; 64(6): 23-32

FINANCING

None.

CONFLICT OF INTEREST

None.

AUTHORSHIP CONTRIBUTION

Conceptualization: Noel Taboada Lugo.

Research: Noel Taboada Lugo.

Methodology: Noel Taboada Lugo.

Writing - original draft: Noel Taboada Lugo.

Writing - revision and editing: Noel Taboada Lugo.