Skip to main content
SpringerLink
Log in

Genetic Counseling

Prelude to Prenatal Diagnosis

  • Chapter
Genetic Disorders and the Fetus

Abstract

The revolution in genetic biotechnology has fueled the public’s increasing awareness of opportunities to avoid or prevent certain serious genetic defects. In North America at least, prospective parents, alert to such opportunities for prevention, have been quick to enlist the aid of the legal profession when the chance to avoid a serious congenital defect has been missed. As a consequence, successful claims by plaintiffs have helped to catalyze the recognition of a genetic standard of care in obstetric practice (Milunsky, 1985). Establishment of medical genetics as a speciality by board certification has also raised the expectations of genetic care in medical practice in general, and in obstetric, pediatric, and family practice in particular.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Abramovsky, I., Godmilow, L., Hirschhorn, K., et al., 1980, Analysis of a follow-up study of genetic counseling, Clin. Genet. 17:1.

    Article  PubMed  CAS  Google Scholar 

  • Alberman, E. D., and Creasy, M. R., 1977, Frequency of chromosomal abnormalities in miscarriages and perinatal deaths, J. Med. Genet. 14:313.

    Article  PubMed  CAS  Google Scholar 

  • Alker, H. A., 1969, Rationality and achievement: A comparison of the Atkinson-McClelland and Kogan-Wallach formulations, J. Perspect. 37:207.

    CAS  Google Scholar 

  • Annas, G. J., 1980, Fathers anonymous: Beyond the best interests of the sperm donor, in: Genetics and the Law II (A. Milunsky and G. Annas, eds.), p. 331, Plenum Press, New York.

    Chapter  Google Scholar 

  • Antley, R. M., 1976, Variables in the outcome of genetic counseling, Soc. Biol. 23:108.

    PubMed  CAS  Google Scholar 

  • Antley, R. M., and Hartlage, L. C., 1976, Psychological responses to genetic counseling for Down’s syndrome, Clin. Genet. 9:257.

    Article  PubMed  CAS  Google Scholar 

  • Archer, I. M., Young, I. D., Rees, D. W., et al., 1983, Carrier detection in Hunter’s syndrome, Am. J. Med. Genet. 16:61.

    Article  PubMed  CAS  Google Scholar 

  • Berman, P., DesJardins, C., and Fraser, F. C., 1975, The inheritance of the Aarskog syndrome, J. Pediatr. 86:885.

    Article  PubMed  CAS  Google Scholar 

  • Bhattacharya, S. S., Wright, A. F., Clayton, J. F., et al., 1984, Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L 1.28, Nature 309:253.

    Article  PubMed  CAS  Google Scholar 

  • Bjerkedal, T., Czeizel, A., Gaiyard, J., et al., 1982, Valproic acid and spina bifida, Lancet 2:1096.

    Article  PubMed  CAS  Google Scholar 

  • Boué J., Boué, A., and Lazar, P., 1975, Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions, Teratology 12:11.

    Article  PubMed  Google Scholar 

  • Brent, R. L., 1985, The magnitude of the problem of congenital malformations, in: Prevention of Physical and Mental Congenital Defects, Part A: The Scope of the Problem (M. Marois, ed.), p. 55, Liss, New York.

    Google Scholar 

  • Briard, M.-L., Frezal, J., and Kaplan, J., 1977a, Genetic counseling (results of 10 years experience) 2. Requests, J. Genet. Hum. 25:25.

    PubMed  CAS  Google Scholar 

  • Briard, M.-L., Kaplan, J., and Frezal, J., 1977b, Le conseil génétique (résultats de dix annees d’expérience) 3. Evaluation du risque, J. Genet. Hum. 25:77.

    PubMed  CAS  Google Scholar 

  • Capron, A. M., 1979, Autonomy, confidentiality and quality care in genetic counseling, in: Genetic Counseling: Facts, Values and Norms (A. M. Capron, M. Lappe, R. F. Murray, et al., eds.), p. 307, New York.

    Google Scholar 

  • Carter, C. O., 1977, Monogenic disorders, J. Med. Genet. 14:316.

    Article  PubMed  CAS  Google Scholar 

  • Carter, C. O., Roberts, J. A., Evans, K. A., et al., 1971, Genetic clinic: A follow-up, Lancet 1:281.

    Article  PubMed  CAS  Google Scholar 

  • Cartier, L., Clow, C. L., Lippman-Hand, A., et al., 1982, Prevention of mental retardation in offspring of hyperphenylalaninemic mothers, Am. J. Public Health 72:1386.

    Article  PubMed  CAS  Google Scholar 

  • Cecos, F., Mattei, J. F., and Le Marec, B., 1983, Genetic aspects of artificial insemination by donor (AID). Indications, surveillance and results, Clin. Genet. 23:132.

    Article  Google Scholar 

  • Chamcides, L., Truex, R. C., Vetter, V., et al., 1977, Association of maternal systemic lupus erythematosus and congenital complete heart block, N. Engl. J. Med. 297:1204.

    Article  Google Scholar 

  • Chandler, S., and Rabow, J., 1969, Ethnicity and acquaintance as variables in risk-taking, J. Soc. Psychol. 77:221.

    Article  PubMed  CAS  Google Scholar 

  • Chervenak, F. A., Berkowitz, R. L., Romero, R., et al., 1983, The diagnosis of fetal hydrocephalus, Am. J. Obstet. Gynecol. 147:703.

    PubMed  CAS  Google Scholar 

  • Chervenak, F. A., Jeanty, P., Cantraine, F., et al., 1984, The diagnosis of fetal microcephaly, Am. J. Obstet. Gynecol. 149:512.

    PubMed  CAS  Google Scholar 

  • Childs, B., 1975, Approaches to genetic counseling, Ann. N. Y. Acad. Sci. 240:132.

    Article  PubMed  CAS  Google Scholar 

  • Chung, C.S., and Myrianthopoulos, N. C., 1975, Factors Affecting Risks of Congenital Malformations: II. Effect of Maternal Diabetes, p. 23, Stratton, New York.

    Google Scholar 

  • Clow, C. L., Fraser, C., Laberge, C., et al., 1973, On the application of knowledge to the patient with genetic disease, in: Progress in Medical Genetics, Vol. 9 (A. G. Steinberg and A. G. Beam, eds.), p. 159, Grune and Stratton, New York.

    Google Scholar 

  • Curie-Cohen, M., Luttrel, L., and Shapiro, S., 1979, Current practice of artificial insemination by donor in the United States, N. Engl. J. Med. 300:585.

    Article  PubMed  CAS  Google Scholar 

  • Davidson, R. G., Nitowsky, H. M., and Childs, B., 1963, Demonstration of two populations of cells in the human female heterozygous for glucose-6-phosphate dehydrogenase variants, Proc. Natl. Acad. Sci. USA 50:481.

    Article  PubMed  CAS  Google Scholar 

  • Dumon, J. E., and Leroy, J. G., 1980, AID and recurrent non-disjunction, Clin. Genet. 17:62.

    Google Scholar 

  • Emery, A. E. H., 1975, Genetic counselling, Br. Med. J. 3:219.

    Article  PubMed  CAS  Google Scholar 

  • Emery, A. E. H., 1977, Changing patterns in a genetic counseling clinic, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 113, Raven Press, New York.

    Google Scholar 

  • Emery, A. E. H., 1980, Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis, Br. Med. Bull. 36:117.

    PubMed  CAS  Google Scholar 

  • Emery, A. E. H., and Pullen, I. (eds.), 1984, Psychological Aspects of Genetic Counselling, Academic Press, London.

    Google Scholar 

  • Emery, A. E. H., Watt, M. S., and Clark, E. R., 1972, The effects of genetic counselling in Duchenne muscular dystrophy, Clin. Genet. 3:147.

    Article  PubMed  CAS  Google Scholar 

  • Emery, A. E. H., Watt, M. S., and Clark, E., 1973, Social effects of genetic counselling, Br. Med. J. 219:724.

    Article  Google Scholar 

  • Emery, A. E. H., Raebum, J. A., and Skinner, R., 1979, Prospective study of genetic counseling, Br. Med. J. 1:1253.

    Article  PubMed  CAS  Google Scholar 

  • Epstein, C. J., 1973, Who should do genetic counseling, and under what circumstances? Birth Defects Orig. Artie. Ser. IX-39.

    Google Scholar 

  • Evers-Kiebooms, G., and van den Berghe, H., 1979, Impact of genetic counseling: A review of published follow-up studies, Clin. Genet. 15:465.

    Article  PubMed  CAS  Google Scholar 

  • Falek, A., 1977, Use of the coping process to achieve psychological homeostasis in genetic counseling, in: Genetic Counseling (H. A. Lubbs and F. de la Cruz, eds.), p. 179, Raven Press, New York.

    Google Scholar 

  • Finlay, A. Y., Kingston, H. M., and Holt, P. J. A., 1983, Chronic granulomatous disease carrier geno-dermatosis, Clin. Genet. 23:276.

    Article  PubMed  CAS  Google Scholar 

  • Fraccaro, M., Morone, G., Manfredini, U., et al., 1967, X-linked cataract, Ann. Hum. Genet. 31:45.

    PubMed  CAS  Google Scholar 

  • Fraser, F. C., 1974, Genetic counseling, Am. J. Hum. Genet. 26:636.

    PubMed  CAS  Google Scholar 

  • Fraser, F. C., and Forse, R. A., 1981, On genetic screening of donors for artificial insemination, Am. J. Med. Genet. 10:399.

    Article  PubMed  CAS  Google Scholar 

  • Fraser, F. C., and Pressor, C., 1977, Attitudes of counselors in relation to prenatal sex determination simply for choice of sex, in: Genetic Counseling (H.A. Lubs and F. de la Cruz, eds.), p. 109, Raven Press, New York.

    Google Scholar 

  • Gall, J. C., Stem, A. M., Poznanski, A. K., et al., 1972, Otopalatodigital syndrome: Comparison of clinical and radiographic manifestations in males and females, Am. J. Hum. Genet. 24:24.

    PubMed  Google Scholar 

  • Gianelli, F., Choo, K. H., Rees, D. J. G., et al., 1983, Gene deletions for factor IX. Evidence with haemophilia B+ anti-factor antibodies, Nature 303:181.

    Article  Google Scholar 

  • Gieser, E. P., and Falls, H. F., 1961, Hereditary retinoschisis, Am. J. Ophthalmol. 51:1193.

    PubMed  CAS  Google Scholar 

  • Gillespie, F. D., 1961, Ocular albinism with report of a family with female carriers, Arch. Ophthalmol. 66:114.

    Article  Google Scholar 

  • Gordis, L., Childs, B., and Roseman, M. G., 1977, Obstetricians’ attitudes toward genetic screening, Am. J. Public Health 67:469.

    Article  PubMed  CAS  Google Scholar 

  • Graham, J. B., 1979, Genotype assignment in the haemophilias, Clin. Haematol. 8:115.

    PubMed  CAS  Google Scholar 

  • Hanson, J. W., 1983, Teratogenic agents, in: Principles and Practice of Medical Genetics (A. E. H. Emery and D. L. Rimoin, eds.), p. 127, Churchill, Livingstone, Edinburgh.

    Google Scholar 

  • Harper, P. S., 1984, Practical Genetic Counselling, 2nd ed., Wright, Bristol.

    Google Scholar 

  • Harper, P. S., O’Brien, T., Murray, J. M., et al., 1983, The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy, J. Med. Genet. 20:252.

    Article  PubMed  CAS  Google Scholar 

  • Harris, G. S., and Miller, J. R., 1968, Choroideremia: Visual defects in a heterozygote, Arch. Ophthalmol. 80:423.

    Article  PubMed  CAS  Google Scholar 

  • Haxton, M. J., and Bell, J., 1983, Fetal anatomical abnormalities and other associated factors in middle-trimester abortion and their relevance to patient counseling, Br. J. Obstet. Gynaecol. 90:501.

    Article  PubMed  CAS  Google Scholar 

  • Healey, J. M., 1976, Legal aspects of artificial insemination by donor and paternity testing, in: Genetics and the Law I (A. Milunsky and G. Annas, eds.), p. 203, Plenum, New York.

    Chapter  Google Scholar 

  • Herbst, D. S., and Baird, P. A., 1981, Recurrence risks for nonspecific mental retardation, Am. J. Hum. Genet. 33:80A.

    Google Scholar 

  • Hook, E. B., 1982, Contribution of chromosome abnormalities to human morbidity and mortality, Cytogenet. Cell Genet. 33:101.

    Article  PubMed  CAS  Google Scholar 

  • Hook, E. B., 1983, Perspectives in mutation epidemiology: 3. Contribution of chromosome abnormalities to human morbidity and mortality and some comments upon surveillance of chromosome mutation rates, Mutat. Res. 114:389.

    PubMed  CAS  Google Scholar 

  • Hook, E. B., and Hamerton, J. L., 1977, The frequency of chromosome abnormalities detected in consecutive newborn studies, in: Population Cytogenetics, Studies in Humans (E. B. Hook and I. H. Porter, eds.), p. 63, Academic Press, New York.

    Google Scholar 

  • Horn, N., 1983, Menkes X-linked disease: Prenatal diagnosis and carrier detection, J. Inherited Metab. Dis. 6(Suppl. 1):59.

    Article  PubMed  Google Scholar 

  • Home, W. C., 1970, Group influence on ethical risk-taking. The inadequacy of 2 hypotheses, J. Soc. Psychol. 80:237.

    Article  Google Scholar 

  • Hsia, Y. E., 1974, Choosing my children’s genes: Genetic counseling, in: Genetic Responsibility (M. Lipkin and P. T. Rowley, eds.), p. 43, Plenum Press, New York.

    Chapter  Google Scholar 

  • Hsia, Y. E., 1977, Approaches to the appraisal of genetic counseling, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 53, Raven Press, New York.

    Google Scholar 

  • Hsia, Y. E., Bratu, M., and Herbordt, A., 1971, Genetics of the Meckel syndrome (dysencephalia splanchnocystica), Pediatrics 48:237.

    PubMed  CAS  Google Scholar 

  • Hsia, Y. E., Hirschhorn, K., Silverberg, R. L., et al., 1979, Counseling in Genetics, Liss, New York.

    Google Scholar 

  • Johnston, S. S., and Nevin, N. C., 1976, Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe, in: The Eye and Inborn Errors of Metabolism (D. Bergsma, A. J. Bron, and E. Cotlier, eds.), p. 569, Liss, New York.

    Google Scholar 

  • Karp, L. E., 1981, Artificial insemination: A need for caution, Am. J. Med. Genet. 9:179.

    Article  Google Scholar 

  • Kelly, T. E., Edwards, P., Rein, M., et al., 1984, Teratogenicity of anticonvulsant drugs, II: A prospective study, Am. J. Med. Genet. 19:435.

    Article  PubMed  CAS  Google Scholar 

  • Kerr, C. B., Wells, R. S., and Cooper, K. E., 1966, Gene effect in carriers of anhidrotic ectodermal dysplasia, J. Med. Genet. 3:169.

    Article  PubMed  CAS  Google Scholar 

  • Kessler, S., 1981, Psychological aspects of genetic counseling: Analysis of a transcript, Am. J. Med. Genet. 8:137.

    Article  PubMed  CAS  Google Scholar 

  • Kessler, S., Kessler, H., and Ward, P., 1984, Psychological aspects of genetic counseling, III: Management of guilt and shame, Am. J. Med. Genet. 17:673.

    Article  PubMed  CAS  Google Scholar 

  • Kingston, H. M., Thomas, N. S. T., Pearson, P. L., et al., 1983, Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome, J. Med. Genet. 20:255.

    Article  PubMed  CAS  Google Scholar 

  • Klein, D., and Wyss, D., 1977, Retrospective and follow-up study of approximately 1000 genetic consultations, J. Genet. Hum. 25:47.

    PubMed  CAS  Google Scholar 

  • Lake, F. D., 1976, Memo to the membership: Radiation and women. Am. Coll. Radiol. Bull. 32(11):3.

    Google Scholar 

  • Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., et al, 1981, Deletions of chromosome 15 as a cause of Prader-Willi syndrome, N. Engl. J. Med. 304:325.

    Article  PubMed  CAS  Google Scholar 

  • Lenke, R. R., and Levy, H. L., 1980, Maternal phenylketonuria and hyperphenylalaninemia, N. Engl. J. Med. 303:1202.

    Article  PubMed  CAS  Google Scholar 

  • Leonard, C.O., Chase, G. A., and Childs, B., 1972, Genetic counseling: A consumers’ view, N. Engl. J. Med. 287:433.

    Article  PubMed  CAS  Google Scholar 

  • Lippmann-Hand, A., and Fraser, C. F., 1979a, Genetic counseling: Provision and reception of information, Am. J. Med. Genet. 3:113.

    Article  Google Scholar 

  • Lippman-Hand, A., and Fraser, C. F., 1979b, Genetic counseling—The postcounseling period, II: Making reproductive choices, Am. J. Med. Genet. 4:73.

    Article  PubMed  CAS  Google Scholar 

  • Lubs, H. A., and de la Cruz, F., 1977, Genetic Counseling, Raven Press, New York.

    Google Scholar 

  • McCollum, A. T., and Silverberg, R. L., 1979, Psychosocial advocacy, in: Counseling in Genetics (Y. E. Hsia, K. Hirschhorn, R. L. Silverberg, et al., eds.), p. 239, Liss, New York.

    Google Scholar 

  • McCue, C.M., Mantakas, M. E., Tingelstad, J. B., et al., 1977, Congenital heart block in newborns of mothers with connective tissue disease, Circulation 56:82.

    PubMed  CAS  Google Scholar 

  • McKeran, R. O., Andrews, T. M., Howell, A., et al., 1975, The diagnosis of the carrier state for the Lesch-Nyhan syndrome, Q. J. Med. 44:189.

    PubMed  CAS  Google Scholar 

  • McKusick, V. A., 1983, Mendelian Inheritance in Man: Catalogues of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 6th ed., Johns Hopkins, Baltimore.

    Google Scholar 

  • Migeon, B. R., and Huijing, F., 1974, Glycogen storage disease associated with Phosphorylase kinase deficiency: Evidence for X-inactivation, Am. J. Hum. Genet. 26:360.

    PubMed  CAS  Google Scholar 

  • Miller, E., Hare, J. W., Cloherty, J. P., et al., 1981, Elevated maternal HbAc in early pregnancy and major congenital anomalies in infants of diabetic mothers, N. Engl. J. Med. 304:1331.

    Article  PubMed  CAS  Google Scholar 

  • Milunsky, A., 1973, The Prenatal Diagnosis of Hereditary Disorders, Thomas, Springfield, Illinois.

    Google Scholar 

  • Milunsky, A., 1975, The Prevention of Genetic Disease and Mental Retardation, Saunders, Philadelphia.

    Google Scholar 

  • Milunsky, A., 1977, Know Your Genes, Houghton-Mifflin, Boston.

    Google Scholar 

  • Milunsky, A. (ed.), 1979, Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Plenum Press, New York.

    Google Scholar 

  • Milunsky, A., 1985, Prenatal diagnosis: New tools, new problems, in: Genetics and the Law III (A. Milunsky and G. J. Annas, eds.), p. 335, Plenum Press, New York.

    Google Scholar 

  • Milunsky, A., 1987, Having the Healthiest Baby You Can, Simon and Schuster, New York.

    Google Scholar 

  • Milunsky, A., and Alpert, E., 1984, Results and benefits of a maternal serum alpha-fetoprotein screening program, J. Am. Med. Assoc. 252:1438.

    Article  CAS  Google Scholar 

  • Milunsky, A., and Annas, G. J. (eds.), 1976, Genetics and the Law, Plenum Press, New York.

    Google Scholar 

  • Milunsky, A., and Annas, G. J. (eds.), 1980, Genetics and the Law II, Plenum Press, New York.

    Google Scholar 

  • Milunsky, A., and Annas, G. J. (eds.), 1985, Genetics and the Law III, Plenum Press, New York.

    Google Scholar 

  • Milunsky, A., Alpert, E., Kitzmiller, J. L., et al., 1982, Prenatal diagnosis of neural tube defects, VIII: The importance of serum alpha-fetoprotein screening in diabetic pregnant women, Am. J. Obstet. Gynecol. 142:1030.

    PubMed  CAS  Google Scholar 

  • Moran, E., 1970, Clinical and social aspects of risk-taking, Proc. R. Soc. Med. 63:1273.

    PubMed  CAS  Google Scholar 

  • Morris, J., and Laurence, K. M., 1976, The effectiveness of genetic counseling for neural-tube malformations, Dev. Med. Child Neurol. 18:157.

    Article  Google Scholar 

  • Moser, H. W., Moser, A. B., Frayer, K. K., et al., 1981, Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids, Neurology 31:1241.

    PubMed  CAS  Google Scholar 

  • Muller, C.R., Migl, B., Ropers, H.-H., et al., 1980, Heterozygote detection in steroid sulphatase deficiency, Lancet 1:546.

    Article  PubMed  CAS  Google Scholar 

  • Murphy, E. A., 1968, The rationale of genetic counseling, J. Pediatr. 72:121.

    Article  PubMed  CAS  Google Scholar 

  • Murphy, E. A., and Chase, G. A., 1975, Principles of Genetic Counseling, Yearbook Medical Publishers, Chicago.

    Google Scholar 

  • National Association for Mental Health, 1971, The birth of an abnormal child: Telling the parents, Lancet 2:1075.

    Google Scholar 

  • NICHD National Registry for Amniocentesis Study Group, 1976, Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy, J. Am. Med. Assoc. 236:1471.

    Article  Google Scholar 

  • O’Brien, J. S., Okada, S., Chen, A., et al., 1970, Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay, N. Engl. J. Med. 283:15.

    Article  PubMed  Google Scholar 

  • O’Neill, W. M., Jr., Atkins, C. L., and Bloomer, H. A., 1978, Hereditary nephritis: A re-examination of its clinical and genetic features, Ann. Intern. Med. 88:176.

    PubMed  Google Scholar 

  • Opitz, J. M., 1982, Counseling in cases of idiopathic syndromes, in: Clinical Genetics: Problems in Diagnosis and Counseling (A. M. Willey, T. P. Carter, S. Kelly, et al., eds.), p. 171, Academic Press, New York.

    Google Scholar 

  • Ouellette, E. M., Rosett, H. L., Rosman, N. P., et al., 1977, Adverse effects on offspring of maternal alcohol abuse during pregnancy, N. Engl. J. Med. 297:527.

    Article  Google Scholar 

  • Passarge, E., Eckerland, B., and Stephan, U., 1984, Genetic counselling in cystic fibrosis, Eur. J. Pediatr. 143:54.

    Article  PubMed  CAS  Google Scholar 

  • Pearn, J. H., 1972, Patients’ subjective interpretation of risks offered in genetic counselling, J. Med. Genet. 10:129.

    Article  Google Scholar 

  • Reed, S. C., and Reed, E. W., 1965, Mental Retardation, A Family Study, Saunders, Philadelphia.

    Google Scholar 

  • Reilly, P. R., and Milunsky, A., 1979, Medicolegal aspects of prenatal diagnosis, in: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (A. Milunsky, ed.), p. 603, Plenum Press, New York.

    Google Scholar 

  • Rett, A., 1977, Clinical, genetic and psychological findings in 600 families with more than one mentally retarded child, in: Research to Practice in Mental Retardation—Biomedical Aspects, Vol. Ill (P. Mittler, ed.), University Park Press, Baltimore.

    Google Scholar 

  • Rettig, S., 1966, Group discussion and predicted ethical risk-taking, J. Perspect. Soc. Psychol. 3:629.

    Article  CAS  Google Scholar 

  • Reynolds, B. D., Puck, M. H., and Robinson, A., 1974, Genetic counseling—An appraisal, Clin. Genet. 5:177.

    Article  PubMed  CAS  Google Scholar 

  • Robert, E., and Giubaud, P., 1982, Maternal valproic acid and congenital neural tube defects, Lancet 2:937.

    Article  PubMed  CAS  Google Scholar 

  • Roberts, J. A. F., 1962, Genetic prognosis, Br. Med. J. 1:587.

    Article  PubMed  CAS  Google Scholar 

  • Rubin, S. P., Malin, J., and Maidman, J., 1983, Genetic counseling before prenatal diagnosis for advanced maternal age: An important medical safeguard, Obstet. Gynecol. 62:155.

    PubMed  CAS  Google Scholar 

  • Sauk, J. J., Lyon, H. W., and Witkop, C. J., 1972, Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta, Am. J. Hum. Genet. 24:267.

    PubMed  Google Scholar 

  • Shapiro, L. R., Wilmot, P. L., Kuhr, M. D., et al., 1982, Genetic counseling for normal parents with two or more retarded children: A diagnostic dilemma, in: Clinical Genetics: Problems in Diagnosis and Counseling (A. M. Wiley, T. P. Carter, S. Kelly, et al., eds.), p. 147, Academic Press, New York.

    Google Scholar 

  • Shaw, M. W. 1974, Genetic counseling, Science 184:751.

    Article  PubMed  CAS  Google Scholar 

  • Shaw, M. W. 1977, Review of published studies of genetic counseling: A critique, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 35, Raven Press, New York.

    Google Scholar 

  • Sheth, K. J., Good, T. A., and Murphy, J. V., 1981, Heterozygote detection in Fabry’s disease utilizing multiple enzyme activities, Am. J. Med. Genet. 10:141.

    Article  PubMed  CAS  Google Scholar 

  • Sibinga, M. S., and Friedman, C. J., 1971, Complexities of parental understanding for phenylketonuria, Pediatrics 48:216.

    PubMed  CAS  Google Scholar 

  • Simpson, N. E., Dallaire, L., Miller, J. R., et al., 1976, Prenatal diagnosis of genetic disease in Canada: Report of a collaborative study, Can. Med. Assoc. J. 115:739.

    PubMed  CAS  Google Scholar 

  • Skinner, R., Emery, A. E. H., Anderson, A. J. B., et al., 1975, The detection of carriers of benign (Becker-type) X-linked muscular dystrophy, J. Med. Genet. 12:131.

    Article  PubMed  CAS  Google Scholar 

  • Sly, W. S., 1973, What is genetic counseling? Birth Defects Orig. Artic. Ser. IX:5.

    Google Scholar 

  • Smith, C., Holloways, S., and Emery, A. E. H., 1971, Individuals at risk in families with genetic disease, J. Med. Genet. 8:453.

    Article  PubMed  CAS  Google Scholar 

  • Smith, D. W., 1979, The fetal alcohol syndrome, Hosp. Pract. 10:121.

    Google Scholar 

  • Sorenson, J. R., and Culbert, A. F., 1977, Counselors and counseling orientations—Unexamined topics in evaluation, in: Genetic Counseling (H. A. Lubs and F. de la Cruz, eds.), p. 131, Raven Press, New York.

    Google Scholar 

  • Sorenson, J. R., Swazey, J. P., and Scotch, N. A., 1981, Reproductive Pasts, Reproductive Futures: Genetic Counseling and Its Effectiveness, Liss, New York.

    Google Scholar 

  • Steiner, J., 1970, An experimental study of risk-taking, Proc. R. Soc. Med. 63:1271.

    PubMed  CAS  Google Scholar 

  • Stevenson, A. C., and Davison, B. C. C., 1976, Genetic Counseling, 2nd ed., Lippincott, Philadelphia.

    Google Scholar 

  • Stone, S. C., 1980, Complications and pitfalls of artificial insemination. Clin. Obstet. Gynecol. 23:667.

    Article  PubMed  CAS  Google Scholar 

  • Strong, L. C., Riccardi, V. M., Ferrell, R. E., et al., 1981, Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation, Science 213:1501.

    Article  PubMed  CAS  Google Scholar 

  • Taylor, K., and Merrill, R. E., 1970, Progress in the delivery of health care: Genetic counseling, Am. J. Dis. Child. 119:209.

    PubMed  CAS  Google Scholar 

  • Thompson, L. F., Boss, G. R., Spiegelberg, H. L., et al., 1980, Ecto-5′-nucleotidase activity in lympho-blastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia, J. Immunol. 125:190.

    PubMed  CAS  Google Scholar 

  • Turner, G., Brookwell, R., Daniel, A., et al., 1980, Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27), N. Engl. J. Med. 303:662.

    Article  PubMed  CAS  Google Scholar 

  • Van Wijngaarden, G. K., Fiery, P., Bethlem, J., et al., 1969, Familial mytobular myopathy, Neurology 19:901.

    PubMed  Google Scholar 

  • Walsh, E. P., Keane, J. F., and Sanders, S. P., 1985, Fetal cardiac dysrhythmias: Detection and management, in: Advances in Perinatal Medicine, Vol. 4 (A. Milunsky, E. A. Friedman, and L. Gluck, eds.), p. 63, Plenum Press, New York.

    Google Scholar 

  • Warburg, M., and Simonsen, S. E., 1968, Sex-linked recessive retinitis pigmentosa: A preliminary study of the carrier, Acta Ophthalmol. 46:494.

    CAS  Google Scholar 

  • Wertz, D., Sorenson, J., and Heeren, T., 1984, Genetic counseling and reproductive uncertainty, Am. J. Med. Genet. 18:79.

    Article  PubMed  CAS  Google Scholar 

  • Wilson, J. G., and Fraser, F. C. (eds.), 1977, Handbook of Teratology, Volume 1: General Principles and Etiology, Plenum Press, New York.

    Google Scholar 

  • Winters, R. W., Graham, J. B., Williams, T. F., et al., 1958, A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature, Medicine 37:97.

    Article  PubMed  CAS  Google Scholar 

  • World Health Organization Expert Committee, 1969, Genetic counseling, WHO Tech. Rep. 416:1.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Pediatrics, Obstetrics-Gynecology, and Pathology, Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, 02118, USA

    Aubrey Milunsky

Authors
  1. Aubrey Milunsky
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA

    Aubrey Milunsky MB.B.Ch., D.Sc., F.R.C.P., D.C.H. (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director) (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director)

Rights and permissions

Reprints and permissions

Copyright information

© 1986 Aubrey Milunsky

About this chapter

Cite this chapter

Milunsky, A. (1986). Genetic Counseling. In: Milunsky, A. (eds) Genetic Disorders and the Fetus. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5155-9_1

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-5155-9_1

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-5157-3

  • Online ISBN: 978-1-4684-5155-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation