Bioethics in Asia

pp. 432-433 in Bioethics in Asia

Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute

Copyright 2000, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author.

F26. Muscular dystrophies and gene analysis
Makiko Osawa^.

Tokyo Women’s Medical College, Japan

Genetic diagnosis can be performed for confirmation of the diagnosis for symptomatic patients, for determining potential patients by presymptomatic tests, it can find potential carriers and it can be used for prenatal diagnosis.

I would first like to consider the criteria for applying gene analysis to patient diagnosis at the presymptomatic stage. The methods include possible recognition by elevation of GOT, GPT (AST, ALT), which are used to eliminate misdiagnosis of hepatitis, and checking CK can avoid liver biopsy to diagnosis muscle disease. Gene diagnosis has a merit that in 60% of cases it can avoid muscle biopsy and avoid complications of anesthesia. However it has a demerit that the parents know the diagnosis of an eminent intractable disease without enjoying their child’s asymptomatic developmental stage.

Prenatal diagnosis can be conducted on amniotic fluid, chorionic villi and in the future by maternal blood or preimplantation diagnosis. We hope for the development of prenatal diagnosis by non-invasive maternal blood testing, though we can ask whether prenatal diagnosis promotes a tendency to avoid all intractable diseases? I would like to give some comments and examples of 11 clients I have counseled for prenatal diagnosis of muscular dystrophy (Table 1).

Table 1: Background and decisions of clients undergoing prenatal diagnosis

#Relation to patient	Previous pregnancies	Prior consultation	Result	Decision for pregnancy
1	DMD	Mother	3 (1)	Husband	No deletion	Continue
2	DMD	Aunt	2	Husband, Parents, Sister	Girl	Delivery
3	DMD	Mother	4 (1)	Husband	Girl	Delivery
4	DMD	Cousin	1	Aunt. Mother	Client not carrier	Continue
5	DMD	Sister	1	Husband, Mother	Not affected	Continue
6	DMD	Mother	3 (1)	Husband	Girl	Delivery
7	FCMD	Mother	3 (1)	Husband, Family Doctor, Univ. Hospital (near home)	Low risk of affected fetus	Delivery
8	FCMD	Mother	3 (1)	Family	No answer	No answer
9	FCMD	Mother	2 (1)	Parents	High risk of affected fetus	Termination
10	FCMD	Mother	3 (2)	Husband	High risk of affected fetus	Termination
11	FCMD	Mother	2 (1)	Husband	Low risk of affected fetus	Continue

Some of the reasons given for seeking prenatal diagnosis were: “Wanted to avoid the burden of living with a child with an untreatable muscular dystrophy as it would be very difficult for the child, as well as my husband and I, throughout our lives”, “Desire for confidence that the baby will be healthy. I am a possible carrier of muscular dystrophy”, “I consider it nearly impossible to take care of two disabled children”, “I already have two children with muscular dystrophy”.

Some of the comments the clients said after they had made up their mind after the counseling over the results were: (For DMD): “It is a burden to pay the expenses for prenatal diagnosis. I had previously been very anxious about the result”, “I could calm my mind knowing the child was non-affected. I was greatly relieved of my anxiety”, “I was delighted and relieved to learn that the fetus is a girl. I had been uneasy because I decide I would terminate the pregnancy if the fetus was affected boy”, “I could deliver my baby with peace of mind”, “I could easily make the choice because my fetus was a girl. I do not know what I would have done if the fetus had been a DMD-affected boy”; (For FCMD)* “This is the reality of progress in medicine”, “The weight of the actual figure calculated from gene analysis was the most important factor in making my choice”, “I tried not to think about it because I had already made up my mind”, “It was no longer possible to be ambivalent. I was sorry for the fetus that would be terminated but I felt that it could not be helped either for myself or the child, as I had been concerned about the lives of my two affected children which are filled with difficulties”.

The general comments about prenatal diagnosis were “I hope for progress in medicine such that prenatal diagnosis will not be necessary”, “I do not have the courage to carry a disabled child, given the potential suffering due to their disabilities”, “It is good that we can make a choice, based on the diagnosis, in the early stage of pregnancy, according to individual familial circumstances.”, “Medical progress should be applied practically”, “The decision as to whether to be examined should be made by the person who will undergo the examination”, “Prenatal diagnosis is very helpful. A system of counseling and providing knowledge should be established at the hospital and municipality levels”, “The financial burden was very large. It should be covered by health insurance”, “It was very problematic. Making the decision, after obtaining the prenatal diagnosis result was very difficult and stressful.”

In conclusion there has been rapid progress in molecular genetics but understanding of the ethical issues must keep pace with the scientific advancements.

Please send comments to Email < asianbioethics@yahoo.co.nz >.

To contents page
To Japanese version
To Eubios book list
To Eubios Ethics Institute home page