Before discovering genetic rules, genetic counseling was based on empirical observations. In this process, it was important to recognize that certain diagnoses were more frequent in certain couples’ descendants. The 20th century witnessed revolutionary progress in the science of genetics that coincided with increasing societal demands and therefore became an integral part of modern genetic counseling.
Genetic screening is changing from Mendelian disease ascertainment to predictive testing. We are also learning that the phenotypes of even simple Mendelian disorders are influenced by complex genetic and environmental factors. Moreover, developing knowledge about genotype/phenotype associations and many other aspects of genetic epidemiology will increasingly require referral to clinical geneticists.
The history of fetal diagnosis and therapy: The Semmelweis University experience. Fetal Diagn Ther 2002;17:258-67.
Prenatal sex determination by amniocentesis. Obstet Gynecol 1970;36:429-32.
Cytogenetic analysis of cord-blood lymphocytes. Lancet 1970;1:1401-02.
Intrauterine diagnose von G/Gtranslocation. Z. Geburshilfe Perinatol 1972;176:409-12.
Chromosome study of couples with repeated spontaneous abortion. Fertil Steril 1974;25:713-17.
Non-directive prenatal genetic counseling. In: Kurjak A, Chervenak FA (Eds). The Fetus as a Patient. Carnforth, UK: Parthenon Publishing 1994:71-77.
Prenatal diagnosis policy without routine amniocentesis in pregnancies with a positive family history for neural tube defects. Am J Med Genet 1987;26:103-10.
Prenatal screening for neural tube defects and other malformations by both serum AFP and ultrasound. In: Kurjak A (Ed). The Fetus as a Patient. Amsterdam, New York, Oxford: Elsevier Science Publishers 1985:167-80.
Impact of prenatal mid-trimester screening on the prevalence of fetal structural anomalies: Prospective epidemiological study. Ultrasound Obstet Gynecol 1995;6:320-26.
Quality assurance in obstetric and gynecological ultrasound in Hungary [Editorial]. Ultrasound Obstet Gynecol 1996;7:305-06.
Quality assurance in obstetric and gynecologic ultrasound: The Hungarian model. Ann NY Acad Sci 1998;847:99-102.
Atlas of fetal diagnosis. Amsterdam, London, New York, Tokyo: Elsevier 1992.
Spontaneous and indicated abortions. In: Iffy L, Apuzzio JJ, Vintzileos AM (Eds). Operative Obstetrics. New York: McGraw-Hill, Inc 1992:29-49.
Pathological evaluation in the first trimester: In: Kurjak A, Chervenak FA, Carrera JM (Eds). The Embryo as a Patient. Carnforth, UK: Parthenon Publishing 2001:213-21.
Management of early abortion. In: Kurjak A, Chervenak FA, Carrera JM (Eds). The Embryo as a Patient. Carnforth, UK: Parthenon Publishing 2001:121-28.
Post-termination counseling after abnormal prenatal genetic diagnosis. In: Cosmi EV (Ed). The Fetus as a Patient. Bologna: Monduzzi Editore 2000:43-46.
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001;106:102-14.
Genetic counseling and termination of pregnancy in Hungary. J Med Philos 1989;14:323-33.
Is third trimester abortion justified? Br J Obstet Gynaecol 1996;103:187-89.
Reproductive decisions after genetic counseling of couples at high risk for cystic fibrosis: A perspective from the last two decades. In: Kurjak A, Chervenak FA (Eds). The Fetus as a Patient. Carnforth, UK: Parthenon Publishing 1994:107-15.
Computer follow-up system for obstetric, genetic and neonatal care in Hungary. Int J Gynecol Obstet 1993;43:323-24.
Reproductive planning after genetic counseling: A perspective from the last decade. Clin Genet 1990;38:295-306.
Attitudes of genetic counselors: A multinational survey. Am J Hum Genet 1988;42:592-600.
Ethical issues in genetic counseling: A comparison of MS counselor and medical geneticist perspectives. J Genet Couns 1992;1:19-30.
Is non-directive genetic counseling possible? Lancet 1991;338:998-1001.
Psychological aspects of genetic counseling (VII). Thoughts on directiveness. J Genet Couns 1992;1:9-18.
Directiveness in prenatal genetic counseling. Women Health 1994;22:31-53.
Nondirectiveness in genetic counseling: An empirical study. Am J Hum Genet 1997;60:40-47.
Resistance and adherence to the norms of genetic counseling. J Genet Couns 1995;4:151-67.
Empirical evidence that genetic counseling is directive: Where do we go from here? Am J Hum Genet 1997;60:17-20.
An exploration of health education's responsibility: A partnership mode of client-provider relations. Patient Educ Couns 1987;9:25-31.
Preferences for involvement in medical decision-making: Situational and demographic influences. Patient Educ Couns 1993;22:133-40.
Nondirectiveness and genetic counseling. J Genet Couns 1995;4:3-25.
Perception of risk in genetic counseling. Psychol Health 1989;3:45-61.
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. Clin Genet 1993;43:160-65.
Outcomes assessment in health care reform: Promise and limitations. Am J Law Med 1994;20:37-57.
A qualitative assessment of primary care physicians’ perceptions about the ethical and social implications of offering genetic testing. Qual Health Res 1995;5:97-116.
Neutrality is not morality: The ethics of genetic counseling. In: Bartels DM, Le Roy BS, Caplan AL (Eds). Ethical Challenges in Genetic Counseling. Hawthorne, NY: Aldine De Gruyter 1993:149-65.
Education about BRCA1 testing decreases women's interest in being tested. Am J Hum Genet 1996;(Suppl 59):A56.
Phenotypes of patients with “simple” Mendelian disorders are complex traits: Thresholds, modifiers and systems dynamics. Am J Hum Genet 2000;66:1729-35.
Monogenic traits are not simple: Lessons from phenylketonuria. Trends Genet 1999;15:267-72.
Complex phenotypes in metabolic muscle diseases. Muscle Nerve 2000;23:1157-59.
Postgenomic medicine. Presymptomatic testing for prediction and prevention. Clin Perinatol 2001;28:425-34.
Change in public demand for genetic counselling in the past 25 years. In: Chervenak FA, Kurjak A, Papp Z (Eds). The Fetus as a Patient. The Evolving Challenge. Boka Raton, London, UK: Parthenon Publishing 2002:130-44.
Ethical challenges of genomics for perinatal medicine: The Budapest Declaration. Am J. Obstet Gynecol 2009;201:336.
Ethical considerations in prenatal diagnosis. In: Schenker JG (Ed). Ethical Dilemmas in Perinatal Medicine. New Delhi, India: Jaypee Brothers Medical Publishers 2010:71-80.