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Harvard Public Health Review: A Peer-Reviewed Journal

Commentary

The Ethical and Medical Implications of Prenatal and Preimplantation Screening

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Reddy, M. The Ethical and Moral Implications of Prenatal and Preimplantation Screening. Harvard Public Health Review 2021; 34.

Introduction:

Advances in the technology of prenatal and preimplantation screening have given rise to new ethical and moral dilemmas (1). These dilemmas call for improved regulatory guidelines. The article makes several key recommendations toward that end.

 

New Technologies:

Medical options to screen fetuses for chromosomal and genetic anomalies have expanded and improved exponentially. This new plethora of screening options has encouraged practitioners to design customized, economic, and non-invasive screening plans for clients.

 

Prenatal Screening:

Prenatal screening starts with folic acid supplementation (to prevent neural tube defects) and a panel of tests including rubella, syphilis, HIV immunity, and Rhesus D status.

 

Subsequent prenatal screening often assesses the risk of Down syndrome, major structural deformities, and trisomies 13 and 18. These noninvasive prenatal tests (NIPT) uses cell-free fetal DNA, a key development in the field of fetal chromosomal analysis. The final prenatal visit includes NIPT testing, which more accurately excludes false positives and negatives (2).

 

Preimplantation Screening:


Preimplantation genetic screening takes place at an earlier stage of preconception and identifies certain diseases at the cell stage of the embryo (oftentimes the third or fifth day of embryo development). Like other screening techniques, it has become more accurate and currently evaluates all 23 chromosomes with microarray technology. Microarray technology analyzes both single nucleotide polymorphisms and comparative genomic hybridization and offers a comprehensive tool to detect certain fetal anomalies (3).

 

These advanced screening plans provide clients with useful information. They accurately detect fetal abnormalities, ranging from chromosomal aneuploidies to major structural anomalies including exomphalos, cleft palate, gastroschisis and anencephaly. This information helps clients make difficult decisions concerning the future the fetus. However, legal guidelines governing both technology and client counseling have lagged behind.

 

Evolving Regulatory Guidelines:

Every trailblazing technology must patiently await for the law to follow behind, pave the newly blazed trail, implement regulations to govern its use, and install curbs, signs, and traffic lights. The technology of fetal screening is no exception. The technology blazes ahead and the legal and regulatory frameworks lag several years behind.

 

For example, policies governing “standard” counseling procedures for mothers of fetuses with genetic anomalies fail to account for the improved, often dispositive, accuracy of current screening technologies (7). In the face of such information, few genetic counselors can maintain the impartial “nondirective” positions prescribed by law when counseling clients.

 

Ethical Dilemmas:

From a medical perspective, prenatal and preimplantation screenings seem to be advantageous tools that can help pregnant women make informed decisions. However, the information provided by these screening methods can give rise ethical dilemmas for mothers and practitioners (4).

 

Genetic abnormalities require women and their doctor to consider termination. The choice of “genetic abortion” often arises only because of the accurate information provided by these emerging technologies. The decision to terminate a pregnancy can result in complex grief reactions from mothers. Reactions can include depression, weight loss, low self-esteem, delusions, post-traumatic stress, and suicide attempts.

 

Despite the implications of such an irrevocable decision, one study found that medical professionals spent an average of only 2.5-6.5 minutes discussing genetic counseling with pregnant women (5). Is 2.5-6.5 minutes sufficient time for a client to make an informed decision? Can a client responsibly choose to terminate a pregnancy without a detailed understanding of the associated costs, benefits, and risks?

 

Medical professionals swear a Hippocratic Oath to do no harm (nonmaleficence) and to act in the patient’s best interest (beneficence). What is a provider to do when it is not possible to do both? The concept of nonmaleficence questions genetic abortion. Providers vow to do no harm, yet sometimes harm is ambiguously defined and unavoidable (6). Consequently, providers and clients alike bear the psychological burden of choice.

 

Genetic abortions create moral quandaries for clients who may undergo such procedures once in a lifetime. Clients often defer to their providers to mitigate the psychological burden of responsibility for making difficult medical decisions. Given that, is it unreasonable to expect genetic abortions to create even greater moral quandaries for the medical providers who perform hundreds of these procedures every year? Is it unreasonable to expect those same providers to suffer psychological symptoms not unlike those suffered by clients?

 

A Slippery Slope:

Perhaps genetic abortions are more justifiable at earlier stages of development. Early screening tests like NIPT may help mothers follow through with a genetic abortion before psychological bonds strengthen. However, if NIPT becomes a ‘routinized’ sequence of tests performed in prenatal screening, mothers may lose the right to eschew the test and the information it provides.

 

Moreover, in low-income countries, NIPT may become a means to abort fetuses based on sex and other questionable characteristics. Moreover, poorer populations may be less able to afford such screening tests, particularly absent single payer healthcare and given increased economic inequality worldwide.

 

The Need for Improved Guidelines:

Since 1973, mothers in the United States have had the legal option to choose to terminate a pregnancy. As genetic screening advances, government policies, medical guidelines, and societal norms will follow.

 

Recommendations:

Given the urgent and compelling need for improved regulatory guidelines in the area of fetal genetic screening and client counseling, this article recommends implementation of the following guidelines…

 

Acknowledgements

I thank Tenielle Brown for her guidance and her supervision.

 

References:

  1. Asbury BD. Fostering informed choice: alleviating the trauma of genetic abortions. Cornell Journal of Law and Public Policy. 2016;25(2): 293-333.
  2. Jong AD, Maya I, Lith JM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2014;29(1): 1-8. doi:10.1111/bioe.12123.
  3. Brezina P, Ke R, Kutteh W. Preimplantation genetic screening: a practical guide. Clinical Medicine Insights: Reproductive Health. 2013;37-42. doi:10.4137/cmrh.s10852
  4. Allyse M, Minear M, Rote M, et al. Non-invasive prenatal testing: a review of international implementation and challenges. International Journal of Women’s Health. 2015;16(7): 113-26. doi:10.2147/ijwh.s67124
  5. Buchanan A. Choosing who will be disabled: genetic intervention and the morality of inclusion. Social Philosophy and Policy. 1996;13: 18-46.
  6. Coghlan A. Genetic testing: informed choice or waste of money? New Scientist. 2007;196(2624): 8-9. doi:10.1016/s0262-4079(07)62496-8.
  7. Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. Prenatal Diagnosis. 2016;36(6): 594-594. doi:10.1002/pd.4839.