Madrid 1997 World Down Syndrome Ethics Therapies Workshops
CRIBAJE PRENATAL DEL SINDROME DE DOWN
Jovell, A.J., Estrada, D., Boland, A.
Agència d'Avaluació Tecn. Mèdica Travess. de les Corts, 131-159 Pavelló Ave María 08028-Barcelona (Spain) Phone: 93-227.29.00 Fax: 93-227.29.98 E-mail: aatm@prades.cesca.es
Diferentes técnicas basadas en la detección de marcadores bioquímicos en la sangre materna han sido propuestas para la estimación del riesgo fetal de Síndrome de Down. La estimación del riesgo se hace a partir de modelos estadísticos que consideran, además de la edad materna, la concentración sérica de los diferentes marcadores bioquímicos y la edad gestacional. Los resultados de estas pruebas son susceptibles a fluctuaciones secundarias a factores externos como son, entre otros, el hábito tabáquico, el peso materno, o la raza. Además, el carácter seriado de las pruebas, unas condiciones inadecuadas de aplicación de la estrategia de cribaje, la ausencia de un perfil de riesgos representativo de la población de origen que permita determinar el riesgo de Síndrome de Down y/o la ausencia de técnicos con experiencia en la interpretación de estas pruebas son las principales causas que alteran la precisión diagnóstica de esas pruebas. Ello se puede traducir en la presencia de una tasa importante de resultados falsos positivos y falsos negativos. Cuando el resultado de la prueba de estimación de riesgo es de 'alto riesgo' se debe confirmar mediante la aplicación de pruebas de análisis citogenético no exentas de afectos adversos. La provisión universal de estas pruebas en un sistema sanitario público se tendría que determinar dentro de una política definida de diagnosis prenatal que tuviera en cuenta los diferentes valores sociales y éticos. La provisión de estas pruebas a las mujeres embarazadas ha de prever que la decisión por parte de las mujeres ha de ser informada, voluntaria y autónoma. La determinación de una estrategia adecuada de cribaje prenatal plantea múltiples cuestiones éticas, sobre todo si se tiene en cuenta que la alteración cromosómica no se puede corregir terapéuticamente, una vez ha sido detectada, así como las posibles consecuencias indeseables de los resultados falsos negativos y falsos positivos.
Discusión: ¿Desde una perspectiva ética, cuáles son las garantías que se deben considerar en la provisión de una estrategia universal de cribaje prenatal?; ¿Cuál es la tasa aceptable de resultados falsos negativos de las pruebas bioquímicas? ¿Y la de falsos positivos?; ¿Qué criterios deberían determinar la selección de una estrategia universal de cribaje prenatal?; ¿Qué acciones se deben adoptar desde el sistema sanitario y desde la familia ante un valor elevado de riesgo de Síndrome de Down?; ¿Y cuándo se confirma el diagnóstico?; ¿Es posible la valoración de la eficiencia del diagnóstico prenatal?; ¿Es posible que la determinación de una estrategia segura y efectiva de diagnóstico del Síndrome de Down pueda resultar en el futuro en una posible estigmación social de las personas afectadas por síndrome de Down?
PRENATAL DIAGNOSIS: A LESS DISCRIMINATING APPROACH FOR PEOPLE WITH DOWN'S SYNDROME
Groenewoud, T.
Stichting Down's Syndroom. C/O Willem Hofsteestraat 46 1447 GN Purmerend (The Netherlands). E-mail: groen3@k9.dds.nl
After the early seventies, but especially in the eighties it became more and more common in Holland to prevent Down's syndrome by prenatal diagnosis and abortion. Nowadays about 56% of the pregnant women do some kind of prenatal diagnosis: mostly beginning with a serum screening, and after that continuing with an amnio to know for sure. Having progressed such a long way in the medical process, most women choose abortion after the Down's syndrome diagnosis. Life with Down's syndrome is medically proposed as something to be prevented, sometimes at any price. This biased view forms an obstruction for the integration of children with Down's syndrome, for whom it's as important as for any child to be welcomed by society at all levels. This clash has arisen in the Dutch Down's Syndrome Association since 1990 due to the fact that more and more pregnant women choosing to continue their pregnancy after knowing their child has Down's Syndrome were asking for specific help and support which they lacked in their medical prenatal diagnosis process. In the present paper the author will show how the Dutch Down's Syndrome Association has proposed an answer on this matter at several levels individual, social and political and where what is proposed as an alternative basic vision for the present prenatal diagnosis process is under discussion. The author wants to open the discussion with, how to change the present state of the art for the position of people with Down's syndrome in the prenatal diagnosis program. The author bears the brunt by giving an idea what kind of initiatives in Holland were taken for third purpose since 1990.
AN OPINION SURVEY ON MATERNAL SERUM TESTS FOR PRENATAL DIAGNOSIS OF DOWN SYNDROME IN JAPAN
Tatsumi-Miyajima, J.
Radiation Genetics, Faculty of Medicine, Kyoto University, Yoshida-konoe, Sakyo, Kyoto 606 (Japan) Phone: 81-75-753-4412/4415 Fax: 81-75-753-4419
Recently, the maternal serum tests as one of the prenatal screenings have been reported in the mass media in Japan. The tests involve taking maternal blood to test for serum levels of some kinds of hormone. The aim of the tests in Japan is to detect Down Syndrome (DS) fetuses since it is the most common identifiable cause of intellectual disability. We carried out a survey by questionnaire to know the current situation when the parents having disabled children were told by doctors, that their children had an anomaly and their opinions on the maternal serum tests. The total number of questionnaires sent out was 467 at the end of June 1996 by mail and 237 (51%) were returned by the end of September 1996. Parents of the disabled children, including DS, were shocked when they were told by the doctors that their children had an anomaly. However, in the next stage, most of the parents accepted their children quite naturally as ordinary babies. They became convinced not to discriminate against any human beings based upon congenital or post-natal abnormalities. In a society which judges people for their usefulness, disabled people may not be regarded as efficient, but we will benefit from the effort to accept and incorporate them into our society. 61% of the parents having DS children were against the wide use of maternal serum tests. They thought the obstetricians could not offer fair counseling to pregnant women because their knowledge of the disabled people, including DS, is very limited.
GENETIC COUNSELING FOR PRENATAL DIAGNOSIS OF D.S.: AN ETHICAL ISSUE?
Brezigar, A. Institute of Prenatal and Postnatal Diagnosis. Precna 2, Postojna (Slovenia). Phone: 386-61-1404311 Fax: 386-61-1262102
Subject: 150 mothers who elected prenatal diagnosis were questioned about genetic counseling, to evaluate nondirectiveness of the counseling and nonbiased attitude toward Down syndrome persons.
Methods: 150 mothers, who performed prenatal karyotyping at University Clinics of Obstetrics and Gynecology of Ljubljana, were sent by post a written questionnaire. Stamped envelopes were enclosed to receive their replies.
Results: Out of 150 mothers 131 (87,3) answered the questionnaire; 131 14(10,6%) felt it was unnecessary to go to prenatal genetic counseling session; after it, all 131 thought that they had received useful information and that counseling was non-directive; 4(2,9%) stated that no other chromosomal abnormality than Down syndrome was mentioned; 74 (54%) stated that among chromosomal disorders only Down's syndrome physical and developmental characteristics were discussed; 134 (97,8%) remembered only negative facts about them. Although all women who replied thought that prenatal counseling was non-directive this could be questioned, because 97,8% of the mothers remembered only distressing facts about Down syndrome. Many genetic counselors see a person with Down syndrome only in the neonatal period. The shock and grief of parents are then at a peak and no positive aspects of Down syndrome can be imagined. Nevertheless, persons with Down syndrome continue to progress beyond their previously expected physical and social limitation.
Abstract: Prenatal genetic counselors should be dedicated to working for and with those with genetic disorders. This is a prerequisite to counsel in a more balanced way.
BIOETHICS IN HUMAN GENETICS: DIFFERENCES BETWEEN EAST AND WEST
Takebe, H.
Department of Radiation Genetics Faculty of Medicine, Kyoto University, Kyoto 606-01 (Japan) Phone: 81-75-753-4410 Fax: 81-75-753-4419 E-mail: htakebe@med.kyoto-u.ac.jp
Recent progress in human genetics in understanding human genes appears to be changing the concept of medicine. Gene diagnosis can predict the development of certain diseases far before their onsets and gene therapy may cure the diseases which have been regarded intractable for many years. Practical applications of human genetics in hospitals and clinics may be quite different between Western and Eastern countries especially from the ethical aspect. Many doctors are not willing to tell their patients and clients about the genetic nature of the diseases or characteristics in Japan. Patients and clients may feel ashamed or disgraced when they learn that they or their children are suffering from characteristics or malformation. Genetic counseling is still not performed commonly in most of Asian countries, and the 'informed consent' has not been established in clinical genetics in general. This is presumably due to cultural background concerning the concept of heredity or characteristics at birth. Religion may also be involved. Often congenital abnormalities are said to be the retribution of karma or evil of the ancesters, being the transmigration of the soul. This makes heredity a taboo and to be concealed in society. Another important factor in this situation is the very limited education of human genetics in medical schools, at least in Japan, and doctors are not well trained in clinical genetics and counseling. Such attitudes may be the same in most Asian countries, and may underlie China's 'Law on maternal and infant health care', which has been blamed for its eugenic articles by geneticists in Western babies is about one year and only 10% of them survive over 6 years, according to Dr. Sun of PUMC Hospital, Beijing. I unfortunately poor situation before blaming China for the law, which could be based on the considerably different philosophy from that in Western countries.