Considerations on the Ethics of Prenatal Diagnosis

Considerations on the Ethics of Prenatal Diagnosis

Prenatal diagnosis comes in various types. Broadly defined, it refers to investigations conducted during pregnancy to examine the growth and abnormalities of the fetus. In recent years, prenatal testing to detect fetal abnormalities has garnered increased attention, particularly due to the rising trend of childbirth among women aged 35 and older. Indeed, there has been an increasing number of people undergoing these tests when considering trends over time. The benefits of undergoing prenatal diagnosis include identifying conditions such as Down syndrome and abnormalities in the brain or heart before birth.

While there are significant benefits to undergoing prenatal diagnosis, it also requires parents to make decisions regarding their baby based on the information obtained before childbirth. Going forward, it can be said that there is a need for further discussion on prenatal diagnosis involving various stakeholders, including the government.

Current State of Prenatal Diagnosis

As mentioned earlier, prenatal diagnosis is highly advantageous because it can detect specific fetal abnormalities. However, paradoxically, it also means knowing beforehand if a baby will be born with a disability. It is inevitable for parents to wish for their baby's happiness. Within this framework, one must question how many parents can ultimately decide to give birth to a baby under such circumstances.

In cases where abnormalities are found through prenatal diagnosis, it is assumed that proper counseling may not always be received. Accredited facilities are structured to provide counseling, but there are also unaccredited facilities where such support may be lacking. Against this backdrop, it cannot be denied that there is a risk that parents might opt for abortion too easily. This could be seen as an act of selectively determining life based solely on parental values.

Furthermore, considering maternal protection laws, fetal abnormality is not recognized as a reason for abortion. So why are abortions performed? It is because, under the pretext of "maternal health," abortions are carried out with broad interpretations. It's crucial to understand that such practices involve ethical dilemmas. With this understanding of the ethical complexities involved, we urge you to consider whether to undergo prenatal diagnosis through NIPT.

NIPT as One Method of Prenatal Diagnosis

The new type of prenatal diagnosis (NIPT) involves analyzing fragments of fetal DNA contained in the mother's blood to investigate specific chromosomal disorders of the fetus. NIPT is officially known as non-invasive prenatal genetic testing or new prenatal genetic testing using maternal blood. It is referred to as a new type of prenatal diagnosis compared to existing methods such as maternal serum markers, as it has been newly established in recent years.

NIPT specifically allows for the investigation of the following three specific abnormalities:

1. Down syndrome (Trisomy 21)
2. Edwards syndrome (Trisomy 18)
3. Patau syndrome (Trisomy 13)

Considering these three conditions collectively, it is said to cover approximately 70% of chromosomal disorders in fetuses.

In terms of performance in Japan, it is reported that approximately 49,000 pregnant women underwent NIPT between April 2013 and March 2017.

It should be noted that while some countries abroad allow for the investigation of conditions other than the above three, as of today, in Japan, guidelines from organizations like the Japan Society of Obstetrics and Gynecology dictate that only these three conditions can be investigated using NIPT.

Opinions of Those Diagnosed with Abnormalities in Prenatal Diagnosis

Up to this point, I've explained about prenatal diagnosis. Let's delve into the feelings of a woman in her 40s living in Tokyo who faced the prospect of her fetus having abnormalities. In 2016, while pregnant, she learned about Non-Invasive Prenatal Testing (NIPT), which could detect conditions like Down syndrome through a simple blood test, and decided to undergo it.

Initially, she intended to accept the reality and proceed with the pregnancy regardless of the test results. However, the NIPT indicated a high likelihood of chromosomal abnormalities. Subsequent confirmatory tests diagnosed the fetus with Down syndrome. Upon receiving this news, she felt overwhelming anxiety.

At the time, she was deeply engrossed in her demanding job, adding to her stress. In her circumstances, she began questioning her ability to raise a child with disabilities successfully. She wondered about the burdens of raising a child with Down syndrome, the support available, the feasibility of both her and her spouse continuing to work, and what the child's adult life might entail. Dissatisfied with the counseling provided at the medical facility where she underwent the prenatal testing, she ultimately lacked confidence in balancing her career and childcare responsibilities, leading her to decide on termination. Reflecting on her decision, she acknowledges that had she not undergone the testing, she might have chosen to accept and raise a child with Down syndrome.

Future Trends in Prenatal Diagnosis

The New Type Prenatal Diagnosis (NIPT) originally concluded that it should be performed only at certified medical institutions meeting criteria including appropriate genetic counseling, established by five related organizations including the Japan Society of Obstetrics and Gynecology (JSOG) and the Japan Medical Association. This decision stemmed from concerns that widespread access to NIPT without proper safeguards could potentially lead to discrimination against individuals with conditions such as Down syndrome, given the significant decision-making involved in pregnancy termination.

However, since 2016, non-certified medical institutions have also begun offering NIPT, where DNA analysis is conducted by testing companies and medical institutions handle only blood collection and counseling. Since 2016, the number of NIPT procedures performed at certified facilities has shown a declining trend, indicating that a significant number of pregnant women are undergoing NIPT at non-certified facilities. Many pregnant women receiving NIPT at these facilities may only receive their results by mail without adequate explanations.

JSOG recognizes this as a critical concern and has drafted guidelines to relax certification requirements for clinics like obstetrics and gynecology clinics to perform NIPT. This includes challenges such as the requirement for a full-time pediatrician, making it difficult for clinics to obtain certification. In response, organizations like the Japan Pediatric Society argue that the involvement of pediatricians, who advocate for children's interests, is insufficient. To address these issues, the Ministry of Health, Labour and Welfare has intervened, establishing a specialist committee to discuss and potentially resolve concerns surrounding NIPT. This suggests that there will be deeper considerations and discussions regarding the future direction of NIPT in Japan.

References

• Fetal Bone System Disease Forum - Fetal Bone System Disease Forum What Genetic Counseling Is or Is Not