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fs 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fs 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: gWanted 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h, gDesire for confidence that the baby will be healthy. I am a possible carrier of muscular dystrophyh, gI consider it nearly impossible to take care of two disabled childrenh, gI already have two children with muscular dystrophyh.

Some of the comments the clients said after they had made up their mind after the counseling over the results were: (For DMD): gIt is a burden to pay the expenses for prenatal diagnosis. I had previously been very anxious about the resulth, gI could calm my mind knowing the child was non-affected. I was greatly relieved of my anxietyh, gI 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h, gI could deliver my baby with peace of mindh, gI 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h; (For FCMD)* gThis is the reality of progress in medicineh, gThe weight of the actual figure calculated from gene analysis was the most important factor in making my choiceh, gI tried not to think about it because I had already made up my mindh, gIt 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h.

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

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


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