網頁圖片
PDF
ePub 版

The introduction of the new methods described in this article has extended genetic counseling into the early postconceptional period with potential elimination of abnormal zygotes.

Nuclear sex and karyotype of the fetus can be determined nowadays shortly after the beginning of the second trimester of gestation.

Nuclear sexing of fetal (amniotic fluid) cells is indicated if the expecting mother is a known conductor of one of the severe X-linked diseases such as Duchenne type muscular dystrophy. In such instances, male offspring carry a risk of 50 per cent of becoming afflicted by the respective X linked disease. This indication is rather infrequent, occurring not more often than a few times in 50,000 live births.

Prenatal chromosomal analysis is indicated when the expected risk of the fetal aneuploidy is greater than 1 per cent. This may be found in about two out of 100 pregnancies; mothers

aged 40 years and over represent the most frequent indications.

Most cytogenetic laboratories, at present, are not equipped to cope with such work loads. However, if the cytogenetic laboratories ad justed their capacity to this task, it would be possible to recognize and ultimately prevent a goodly number (about 30 per cent) of all mongoloids and also other aneuploids in early pregnancy. This, of course, is possible only if the biologically unsound legal barriers against eugenic abortion are removed. It has been shown that fetal aneuploidy occurs with 5 to 10 times greater frequency than neonatal aneuploidy, suggesting that, as a rule, aneuploidies are eliminated by spontaneous abortion and that survival of fetuses to the end of gestation is an exceptional event, perhaps an oversight of nature, and for which correction must become a new task of the physician.

REFERENCES

1. Menees, T. O, et al: Amniography: preliminary report. Amer. J. Roentgenol. Rad. Ther., 24:363-366, 1930.

2. Bevis, D. C. Blood pigments in hemolytic disease of newborn. J. Obstet. Gynec. Brit. Emp., 63 68-75, 1956.

3. Liley, A. W.: Liquor amnii analysis in management of Rhesus sensitization. Am. J. pregnancy complicated by

Obstet Gynec., 82:1359-1370, 1961

4. Burnett, R. G., and Anderson, W. R.: Hazards of amniocentesis. J. Iowa Med. Soc., 38:130-137, 1968.

5. Creasman. W. T. et al: Fetal complications of amniocentesis. JAMA. 204:949-957, 1968.

6. Fuchs, F., and Riis,, P.: Antenatal sex determination. Nature (London), 177:330, 1956.

7. Makowski. E. L., et al: Detection of sex of fetuses by incidence of sex chromatin body in nuclei of cells in amniotic fluid. Science, 123:542-543, 1956.

8. Serr. D. M. et al: Diagnosis of sex before birth using cells from amniotic fluid. Bull. Res. Council. Israel ESB. 137, 1955.

9. Shettles, L. B.: Nuclear morphology of cells in human amniotic fluid in relation to sex of infant Amer. J. Obstet. Gynec., 71:834-838, 1956.

9a. James, F.: Sexing fetuses by examination of amniotic fluid. Lancet. 1:202-203, 1956.

10. Barr, M. L. and Bertram, E. G: Morphological distinction between neurones of male and female, and behavior of nucleolar satellite during accelerated nucleo protein synthesis. Nature, 163 676-677, 1949.

11. Rils, P., and Fuchs, F. Antenatal determination of fetal sex in prevention of hereditary diseases. Lancet, 2:180182. 1960

12. Nelson, M. M., and Emery. A. E.: Amniotic fluid cells: prenatal sex prediction and culture. Brit. Med. J. 1:523$26, 1970.

13. Fujimoto, W. Y., et al: Biochemical diagnosis of X-linked disorder in utero. Lancet, 2:511-512, 1968

14. Abbo, G. and Zellweger, H.: Prenatal determination of fetal sex and chromosomal complement. Lancet. 1:216-217, 1970.

14a. Milunsky, A., et al: Prenatal genetic diagnosis. New Engl. J. Med.. 283:1370-1381, 1441-1447, 1498-1504, 1970. 14b. Nadler, H. L.: Pers. comm.

15. Zellweger, H.: Familial aggregates of 21 trisomy syndrome. Ann. New York Acad. Sci., 155:784-792, 1968. 16. Sawyer, G. M: Case report: reproduction in mongoloid Amer. J. Ment. Defic., 54:204-206, 1949.

17. Réthoré, M. O., et al: Mere et fille trisomiques 21 libres. Ann. Génét. (Paris), 13:42-46, 1970.

18. Smith, David, et al: Mosaicism in mother of two mongols. Amer. J. Dis. Child., 104:532-534, 1962.

18a. Smith, D. W.: Pers. comm.

19. Breg. W. R, et al: Human chromosome identification by visual guinacrine fluorescence patterns. Transact. Am. Ped. Soc., Soc. Ped. Res., p. 279, 1971.

20. Weiss, L., and Dully, M.: Value of fluorescence microscopy in studying abnormalities of G group chromosomes Transact. Am, Ped. Soc., Soc. Ped Res., p. 124. 1971

21. Rosenkranz, W.. und Fleck, S: Die Bedeutung der Association satellitentragender Chromosomen. Humangenetik. 7:9-21, 1969.

22. Luchsinger. U, et al: Satellitenassoziationen bel autosomalen und gonosomalen Chromosomenanomalien und bei Hypothyreosen Humangenetik, 8:53-61, 1969.

23. Lyons, R. B., et al: "Sticky" chromosome syndrome Transact. Amer. Soc. Human Genet., p. 20. Aug. 23-27, 1965. 24. Back, E., und Zang. K. D.: Untersuchungen über die Anordnung der menschlichen Metaphasechromosomen. 3. Das Associationsmuster akrozentrischer Chromosomen bei Muttern mongoloider Kinder und bei Vergleichspersonen. Humangenetik, 8:47-52, 1969.

on

24a. Zang. K. D., and Back, E.: Quantitative studles arrangement of human metaphase chromosomes. I Individual features in association pattern of acrocentric chromosomes of normal males and females. Cytogenetics (Basel), 7:455-470, 1968.

25. O'Brien, J. S., et al: Tay-Sachs disease: prenatal diagnosis. Science, 172:61-64, 1971.

26. O'Brien, J. S., et al: Tay-Sachs disease: detection of heterozygotes and homozygotes by serum hexosaminidase assay. New Engl. J. Med.. 283:15-20, 1970.

27. Nadler, H. L., and Messina, A. M.: In-utero detection of type II. glycogenosis (Pompe's Disease). Lancet. 2:1277– 1278, 1969.

28. Cox, R. P., et al: In utero detection of Pompe's disease. Lancet. 1:893, 1970.

28a Salafsky, J., and Nadler, H. L: Prenatal diagnosis of Pompe's disease. New Engl. J. Med., 284:732, 1971

29. Morrow, G., III, et al: Prenatal detection of methylmalonic acidemia. J. Ped., 77:120-123. 1970.

30. Jeffcoate, T. N., et al: Diagnosis of adrenogenital syndrome before birth. Lancet, 2:553-555, 1965.

31. Cathro, D. M., et al: Antenatal diagnosis of adrenocortical hyperplasia. Lancet, 1:732, 1969.

32. Matalon, R., et al: Chemical method for antenatal diagnosis of mucopolysaccharidoses. Lancet. 1:83-84, 1970.

33. Fratantoni, J. C., et al: Intrauterine diagnosis of Hurter and Hunter syndromes. New Eng. J. Med., 280 686-688, 1969 34. Nadler, H. L.: Prenatal detection of genetic defects J. Pediat., 74:132-143, 1969.

35. Nadler, H. L, et al: Cultivated amniotic-fluid cells and fibroblasts derived from families with cystic fibrosis. Lancet. 2:84-85, 1969.

36. Neel, J. V.: Six experts discuss genetic counseling. Hospital Physician, pp. 55-59, April. 1971.

37. Brady, O. R., et al: Fabry's disease antenatal detection. Science, 172:174-175, 1971.

[From Iowa City Press-Citizen-Wednesday, June 1971]

UI PEDIATRICIAN RECOMMENDS ABORTION IN HIGH RISK PREGNANCIES

Citizens concerned about the rising costs of public services should consider these facts, says a University of Iowa professor of pediatrics:

-The cost to Iowa taxpayers for the birth of one mongoloid child is approximately $180,000 for lifetime care and treatment.

-Approximately 80 mongoloid children and about 200 children with other chromosomal abnormalities are born in Iowa each year.

-The annual cost of caring for these severely mentally retarded children may be several million dollars.

No price tag can be placed on the suffering and grief of the affected families.

"Techniques for detecting mongoloids and other anomalies during prenatal life are available, but Iowa law does not allow us to prevent them," says Dr. Hans Zellweger, professor of pediatrics at the university.

Dr. Zellweger explains:

"About one-third of the fetuses who would be born mongoloid could be positively determined with an expanded program screening pregnant women who are in the high risk category," he explained. "That means that 25 to 30 women each year could be spared the heartbreak of bearing mongoloid children."

Mongolism, also called Down's syndrome, is a birth defect that results in severe mental retardation. The number of chromosomes (carriers of heredity) is 47 instead of the normal 46.

The obstacles in the way of a successful pre-natal screening program in Iowa are lack of funds and the legal status of abortion, he said.

The annual cost of expanding present testing facilities at Iowa City and other sites around the state would be approximately $250,000, Dr. Zellweger said. "That's slightly more than the cost of care for one mongoloid child." In addition to financial problems, legal barriers exist.

If the fetus is found to have abnormal chromosomes and thus to be born with mongolism, a eugenic abortion is the recommendation. Abortions in the state of Iowa are permitted by the law only to save the life of the mother.

Recent attempts in the Iowa state legislature to liberalize the abortion laws failed. Women desiring legal abortions usually must travel out of state to obtain them, Dr. Zellweger said.

Which pregnant women are in the high risk category and would be likely candidates for examination.

Any woman over the age of 40 has greater than 1 chance in 100 of giving birth to a mongoloid child. A woman who is over 35 years old and has already given birth to a mongoloid child is also in this high risk category. Also, if either father or mother have certain minor chromosomal abnormalities, there is a high risk involved.

Many times the testing results in a story with a happy ending.

"A woman who had already given birth to one mongoloid child became pregnant and was very upset, afraid that she would have another such child. We conducted the tests and were able to assure her that the fetus had the normal number of chromosomes and would not suffer mongolism," Dr. Zellweger said. "It made all the difference in the world. The pregnancy was completed in a serene manner."

Every year there are 1,100 to 1,200 pregnancies in Iowa that carry a high risk of mongolism. Facilities to test only a small percentage exist at the present time, Dr. Zellweger said.

"Ideally this prenatal testing would be done for every pregnant woman," he explained. "But we can't hope for that."

How is the test made and is there a hazard for the mother or unborn child? The technique is called amniocentesis and involves withdrawing anniotic fluid from the pregnant uterus. The fluid contains sloughed-off skin cells of the developing fetus.

If kept in a suitable culture medium, the fetal cells will reproduce and then can be studied to determine chromosome abnormality.

Currently, amniocenteses are made at the University Hospitals to detect such abnormalities and also other defects.

For example, some forms of muscular dystrophy and hemophilia (excessive bleeding) are sex-linked inherited conditions. That is, a defective chromosome

may be present in both sexes, but is crippling only in male children. A woman who is a carrier of the sex-linked disease is able to have healthy female children but runs a high risk of disease in male children.

Amniocentesis can be used to determine the sex of the unborn child. If the fetus is a female, then the daughter, like her mother, may or may not be a muscular dystrophy or hemophilia carrier, but the disease will not be expressed in her. If the fetus is male, termination of the pregnancy is recommended, since there is one chance in two of disease development. What about religious objections to abortion?

"Before we begin any genetic counseling, we ask about the religious denomination of the family. If there are any religious objections, we don't go any further," Dr. Zellweger said. "We don't wish to add an ethical conflict to the physical burden of the pregnancy."

Dr. Zellweger thinks that eugenic abortions should be legalized in Iowa. "Many lawmakers don't understand how biologically unsound the present abortion law is," Dr. Zellweger said. "It is well known that about one-tenth of all pregnancies result in spontaneous abortions. That is, nature ends them, not man."

"We have found that 25 to 50 percent of these spontaneously aborted fetuses have chromosomal aberrations. If you consider only those spontaneous abortions that take place in the first six weeks of pregnancy, the number goes up to 70 per cent. Thus, we estimate that 5 to 15 per cent of 200 embryos have chromosomal abnormalities.

"In live-born babies, in contrast, only 1 in 200 has such chromosomal aberrations. Thus, the majority of fetuses with chromosomal abnormalities do not survive but are expelled in the early weeks of pregnancy.

"This is an example of Darwinian selection principles: Of the offspring who will be less able to live a productive and competitive life only a few reach the end of gestation. Those who survive, do so by an oversight of nature and its principle of natural selection.

"Eugenic abortion then would do nothing more than correct an oversight of nature. And this is why many physicians think eugenic abortions should legally be permitted.

"The physician who knows that a mother is expecting a child with a severe chromosomal aberration would certainly not do the best for this mother, if he let such a pregnancy go until the end."

A PRESS RELEASE

From: The Office of Dr. Hans Zellweger, Professor of Pediatrics, University
Hospitals, Iowa City, Iowa. (Telephone (319) 356–2674).
For immediate release: January 19, 1973.

An introduction to the attached press release:

Dr. Hans Zellweger, professor of pediatrics and head of the human genetics division of University Hospitals, was a co-worker and friend of Dr. Albert Schweitzer. They worked together from 1937 to 1939 at Schweitzer's world famous hospital at Lambarene in French Equatorial Africa (now Gabon).

Schweitzer's phrase "reverance for life" is often quoted. Dr. Zellweger feels that the words are often misinterpreted. Out of his personal acquaintance, he analyzes and explains Schweitzer's words and relates reverence for life and the issue of abortion.

ALBERT SCHWEITZER AND ABORTIONS

At a recent discussion of the pros and cons of the liberalization of the abortion law, the question came up, "Where is the reverence for life, if the fetus is eliminated."

As a former co-worker of Dr. Albert Schweitzer, the originator of this principle, this question struck me and I felt compelled to search for an answer. Albert Schweitzer, theologian, philosopher, musician, physician of the deprived in the African jungle, philanthropist and winner of the Nobel prize for peace, recognized in Spring 1915 that "reverence for life" is the very basis of ethics in our civilization. "Ethics is nothing else than reverence for life. Rev

erence for life affords me my fundamental principle of morality, namely that good consists in maintaining, assisting and enhancing life, and that to destroy, to harm or to hinder life is evil." This is what Schweitzer wrote in Civilization and Ethics, New York, MacMillan, 1929, page XVI.

How would Schweitzer respond to the liberalization of the abortion law? This problem never came up in the many discussions we had, yet we were faced with another problem while we were working together in the hospital in Lambarene. His answer pertains to today's discussion, although the problem itself is quite different.

In the African jungle where we worked, no milk was available to feed an infant other than breastmilk. (This was 35 years ago.) Mothers had to breastfeed their babies for two years or more until they were able to tolerate the staple food of older children and adults. Most mothers were able to do so for one infant at a time, but not for twins, at least after the first few months when the growing infants required greater amounts of milk. The well observing, indigenous people recognized that both twins would ultimately starve to death. To prevent this, there existed an unwritten law of the jungle that one of the twins had to be eliminated soon after being born in order to keep the other one alive. I was deeply shocked when I learned about this custom and discussed it with Schweitzer in the light of this ethics. Schweitzer, equally concerned about it, referred me to a passage of his well known book, Out of My Life and Thought, which read as follows, "To the man who is truly ethical, all life is sacred, including that which, from the human point of view seems lower in the scale. He makes distinctions only as each case comes before him and under the pressure of necessity, as for example, when it falls to him to decide which of two lives he must sacrifice in order to save the other. But all through this series of decisions, he is conscious of acting on subjective grounds and arbitrarily, and knows that he bears the responsibiilty for the life which is sacrificed."

The problem of the indigenous of the jungle is certainly not ours. Yet Schweitzer's statement does apply to the problem before us, in other words, abortion. Physicians dealing with malformed children, with mongoloids, and other chromosomally abnormal children are well aware of the tremendous impact such conditions have on the rest of the family. Sorrow and grief are constant; bitterness and resentment are often encountered. The previous happy home life is poisoned by grief and sorrow. Marriages may break to the detriment of the other children who are in need of a harmonious family life to grow up and to become good citizens. Mothers-in many instances-suffer most. I know quite a few mothers who felt they had no other course than to destroy themselves after having struggled with the problem for years. Here then, the physician, who by prenatal studies recognizes severe fetal abnormalities, has to decide which life to sacrifice-that of the mother who is needed by her children, her husband, and society around her, or that of the severely abnormal fetus.

These are situations where we have to choose the lesser of two evils. And the answer is obvious if a harmonious family life is in jeopardy by the threat of a fetus which is defective. In our demanding and sophisticated society, we may even consider whether it is not more humane to eliminate such a fetus than to force him to suffer life long under his handicap. Who is allowed to impose such prospective suffering on another individual? Is it not more humane, and more ethical, to prevent such tragedy? Similar thoughts apply to the unwanted. Who is to decide in such situations? Every single one is different and requires wise deliberation before a sound decision can be reached.

It is absolutely clear that the decision can not be in the hands of the legislators. The legislators have other burdens to carry. The decision has to be that alone of the physician and the parents involved. In the present law, as I understand it, abortion is only allowed when the life of the mother is in danger, and this means immediate danger by some organic or psychiatric disease. Is disappearance of a previously happy family life, is the deteriorating effect of unending tragedy, is maternal suicide a few years later, different from the immediate danger for life during pregnancy? One wonders. I think here the wise words of Albert Schweitzer should be heard: "It may be reverence for life to eliminate while to preserve may mean violation of this basic principle of ethics in our civilization."

[blocks in formation]

Reprinted with the permission of the

FOUNDATION FOR EDUCATION AND RESEARCH IN CHILD BEARING London, England, through the courtesy of Phyllis Court.

« 上一頁繼續 »