Birth Defects in Ukraine, Ukrainian Alliance, Birth Defects Program

An overview of materials presented at the section " Bioethical Issues in Medical Genetics and Human Reproduction " during the First National Bioethics Congress (Kyiv, September 17-20, 2001).

Development of science, wide application of the newest technologies, in particular informational and biotechnological ones, disclosing of human genome and appearing possibilities to clone cells and entire organisms have arouse the urgent necessity to come back to ethical principles, to consider those achievements with bioethical positions.

Though the bioethics definition does not exist today: some scientists consider it to be a science, and others do not agree that boiethics is "the exact science with a set of axioms, recommended rules for all cases of life" (M.M. Kyseliov). Academician J.I. Kundiev thinks that bioethics - "is not only the present stage of medical ethics and deontology development, but as well a comparison of medicine and biology opportunities with human rights and search of humanization ways in medicine and achievement of justice".

Professor W. Wertelecki (USA) considers that bioethics should be related to all live forms during many generations. Bioethics acquire special importance when considering modern genetics and reproduction problems.

In V.F. Cheshko's opinion, "by acquiring social importance, the scientific problem moves from the sphere of the exact sciences into the sphere of politics, ethics, ideology etc." "Growth of social value of scientific ethics, as a whole, and bioethics, in particular, in modern mentality reflects an aggravation of the common problem of science - community system evolution: how mechanisms and norms adjusting social relations can influence and adjust knowledge and interaction of a person with the surrounding world.

On September 17-20, 2001 the First National Bioethics Congress was held in Kiev, there different aspects of the problem mentioned above were covered.

In particular, the significant place in the congress program was allocated to medical genetics and reproduction: 2 reports at the plenary sessions, 15 - at two section sessions and 16 poster reports.

Within the framework of the Ukrainian - American Birth Defects program (director - Dr. W. Wertelecki) modern technologies directed on birth defects prevention in children are developed and realized. Only in the year of 2000 458 pregnancies were interrupted in the system of medical genetic services of Ukraine, where neural tube defects (NTD) were diagnosed prenatally and further postmortem verified (N.O. Zymak-Zakutnya and co-authors). And this is happenning at the time when there are modern effective methods of NTD prevention, in particular, folic acid use is capable to reduce birth of children with the mentioned pathology by 88-92%. Moreover, today in civilized countries fortification of food by folic acid is widely applied.

By the way, the last postulate is displayed in the project of "The Ethical code of a Ukrainian doctor", accepted for discussion at the Congress.

Forming a birth defects monitoring database, data reliability and correctness is extremely important (L.S. Yevtushok and co-authors), and, on the one hand, this data should be open, on the other hand - it is necessary to keep its confidentiality concerning a family and a proband. In this connection, it is necessary to note, that all personal data is exclusively property of local public health services.

The mentioned principles should be kept up at all stages of dynamic surveillance of children with birth defects (T.V. Vihovska and co-authors). Children's charts are confidential, nevertheless the doctor is sometimes compelled to balance interests of parents, probands and official requirements concerning specific information. In particular, it is important while performing telemedical consultations: the principle of confidentiality in association with data openness remains constant.

It should be noted, that at today's stage of medical genetic counselling early (including prenatal) birth defects diagnosis acquire increasing importance. This calls forth a number of problems which should be solved without causing confrontation between rights of a pregnant woman and her fetus (I.Y. Hordienko).

At the same time, the problem of pseudo-positive and pseudo-negative results of congenital defects prenatal ultrasound examination remains very important (V.L. Zharko and co-authors). Similar questions arise also as a result of invasive diagnostic methods use (chorion biopsy, placentocentesis, amniocentesis). The high professional level of a researcher, his correctness and morality can assure that in any case the right on life of the unborn child will be taken into account.

Medical genetic counselling by itself assists in birth defects prevention. Examples of blindness and deafness can help to retrace this problem (M.M. Serhienko and co-authors). Undoubtedly, it is possible to agree with authors who treat a problem of prevention of genetically caused blindness as ethical and offer mass newborn screening with the purpose to increase the diagnosis and early adaptation of such children to an environment, conditions of life and communication with other people.

This question is quite actual now. In Ukraine the late revealing of children with inborn deafness influencing physical and intellectual development of patients is absolutely unethical.

Application of modern surgical technologies, especially in children with birth defects, to certain extent advantages social and household adaptation of patients (Y.O. Orlov). But at the same time there is a number of ethical problems which require their solving. It is hard to disagree with the author that more attention should be given to prevention of this pathology and its early diagnosis.

Certain experience in the decision of those problems is accumulated in the course of diagnosis and treatment of PKU patients. For the last 10 years PKU newborn screening was carried out only in 70% of newborns (N.O. Afanasieva and co-authors). And, obviously, the single region of Ukraine, where mass PKU screening is conducted on a constant basis, is the Autonomous Republic of Crimea. As a result, since 1993 there were no cases of late revealing of the disease.

The last aspect is especially actual for children born with sexual function defects (Y.S. Korzhynsky). The delay with sex definition or change of sex determined at the moment of birth, frequently causes negativism of parents and close relatives of the child.

In cases of nephrourinary anomalies if fetus ultrasound research is carried out, a question of fetus destiny is quite important (L.L. Fashchuk and co-authors). The offered by authors classification enables choosing optimum tactics and, thus, in the majority of cases giving the timely help to newborns or even to fetuses in the antenatal period. But one should remember that wrong medical tactics in some cases can result in unnecessary surgical intervention. At the same time, the delay in treatment will lead to physical disability of the child.

Legislative background of medical genetic services, active work of public organizations (for example, the Ukrainian Alliance for Birth Defects Prevention can appreciably assist in the decision of those problems. At the same time there is an urgent necessity of reforming the medical genetic services, increasing the efficiency of their work, directing their activities to the application of adequate methods of preconceptual prevention and prenatal fetus diagnosis, the timely decision of a question concerning the possibility of postnatal corrections of birth defects or impaired metabolism.

In S.V. Demidov's and E.I. Aleksandrova's opinion bioethical problems in modern medical genetics are related to the wide possibilities of a mutant gene detection at a certain pathology and revealing of an inclination to the prevailing multifactorial diseases (schizophrenia, Alzheimer's disease, etc.).

Nevertheless, development of the population genetic testing programs with the purpose of prevention and improving the efficiency of many diseases treatment demands the all-round preparation of legislative acts which, on the one hand, regulate rights of citizens who pass genetic testing, and, on the other hand, define the duties of the personnel of medical institutions and insurance companies which carry out screening programs (L.A. Livshits). In the author's opinion, the wide mass media educational program both for medical personnel and for public should become an important stage in the introduction of the new genetic testing legislation.

Thus, it is hard to disagree with N.V. Borodaj who pays special attention to the necessity of reforming the medical genetic consultation services facing the wide problems of social and ethical character: defective posterity prognosis, attitude towrds abortion and contraception, and in future - moral bases of gene engineering, attitude to the new projects of sexual and clone procreation of people. The author fairly warns that nature of each person is universal and deeply individual, and the concept of a healthy person includes his somatic state, mental health and social aspects.

Concerning the problem of human reproduction it is necessary to emphasize that lately in Ukraine there have been created a network of institutions giving help to infertile families. They use modern highly effective technologies for that. In the year of 2002 one can expect birth of the millionth child conceived with the help of the new reproductive technologies.

And though the use of such reproductive technologies has achieved significant progress, it is necessary to note that they still have their opponents.

As G.V. Hrynash and co-authors consider, such progress results in a "constant prevalence of engineering above ethics, on the one hand, and leads to constant and each time more profound devaluation of dignity of human reproduction and human embryo, on the other hand. In other words the process of degradation of the person's dignity occurs".

Such remark is undoubtedly categorical but it should be taken into consideration. An overwhelming majority of experts who are engaged in sterility treatment understands that perfectly well.

As V.D. Zukin has fairly noted, there are concrete ethical problems at each stage of modern technologies development, but their processing is eventually only a stage in their realization in legal terms. For those reasons the ethical estimation of modern reproductive technologies should be realized as a law adjusting a person reproduction.

The author marks basic questions, which should be answered during the development of ethical standards. They are:

In R.V. Soboliev's opinion, base ethical questions of adjuvant reproductive technologies were and still remain the rights and benefits of infertile patients, in particular receiving financial help. The other problem is an attitude to the personal information where there is a border between necessary acknowledgement of people that do not participate directly in the patient's treatment and violation of the patient's rights.

When using adjuvant reproductive technologies the complex of hereditary pathology diagnostic methods before implantation is widely introduced. Today more than ten-year experience of such technology application in 17 countries of the world enables diagnosing over 30 hereditary and chromosomal diseases, and this amount is contsantly growing (Y.S. Verlinsky).

Nevertheless, it is necessary to emphasize that this procedure demands the legislational solution as during performance there is a possibility of hypo- and hyperdiagnosis of fetus pathologies, and also there is a problem of correctness of relations with patients and their husbands concerning diagnosed pathologies.

Problems of cloning, possibility of which is proved by practice, cause many discussions of applicative and ethical character.

In F.V. Dahno's opinion, it is impossible to stop the progress, but "ethical questions of reproduction should be solved only by future parents and their doctors and not by legislature. Ethical arguments against cloning are more far-fetched than real".

Nevertheless, not all researchers are so categorical, the majority of them (V.D. Zukin, V.N. Zaporozhan, E. Syreccia, E.N. Shevchuk etc.) consider that this technology falls under necessary legislative regulation, which, unfortunately, is not present in Ukraine up to now.

So, one can agree, that all problems concerning rendering medical services in reproductive health abnormalities (A.M. Serdjuk, O.I. Timchenko) and treatment of infertility (J.S. Parashchuk) demand precise legislative regulations. If such regulations are given they should be coordinated with the international legislative norms.

In I.S. Boyko and co-authors' opinion at the present stage of mankind development application of any artificial means of contraception is unethical, as they do not answer the nature of the human being created by God.

"The standard of sexual behavior implies constant relations between true-hearted people that should be considered in close connection with marriage. The latter is the basic reason for people to be united in love and procreation".

One more problem of bioethics, which is directly connected to medical genetics, is an attitude to estimation of environmental mutagens (as well as carcinogens).

In I.R. Barylyak and co-authors' opinion, the decision of ecological problems requires creation of the mutagens bank - register based on full authentic data received by modern genetic research methods. Incorporated into bank scientifically-grounded information should be constantly renewed. Such bank - register should be accessible both for experts and for wide circle of consumers (public organizations, production facilities, mass media, and others).

Thus, summing up the materials on the problem considered, it is possible to conclude:

Lately genetics as fundamental science penetrates more and more widely into all areas of clinical and theoretical medical science. Achievements of genetics, in particular human genome decoding, essentially influence diagnosis, treatment and prevention of birth defects and hereditary pathology. For this reason all clinical questions which are common in clinical medicine are peculiar to medical genetics: deontological questions, in particular regulating doctor's activity from the point of view of patient's and his family interests, ethical interrelations among diagnostic process participants, confidentiality of the family and proband data, humanism and tolerance of the doctor, his wide erudition and permanent increasing of his professional level.

New ethical problems appear together with medical genetics development and introduction of new technologies (I.R. Barylyak, G.V. Skiban):

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