Skip to main content
NCBI home page
The Yale Journal of Biology and Medicine logoLink to The Yale Journal of Biology and Medicine
. 1977 May-Jun;50(3):275–289.

Prenatal Diagnosis: A Directive Approach to Genetic Counseling Using Decision Analysis 1

Susan P Pauker, Stephen G Pauker
PMCID: PMC2595426  PMID: 142379

Abstract

The decision which prospective parents face concerning mid-trimester amniocentesis for prenatal diagnosis was examined by decision analysis. The prospective parents' decision depends on the likelihood of the birth of a child affected by a genetic disorder, the risk of amniocentesis, and the probability that the diagnoses provided by the amniocentesis will be correct. The couple's decision must also depend on their attitudes toward each possible outcome. The likelihoods of the outcomes can be obtained from appropriate medical consultation, while the relative costs or burdens of the outcomes should be obtained from the prospective parents. A truly informed decision for this couple can then be formulated from these probabilities and values, thus allowing genetic counseling to be more directive. The technique is illustrated for the prenatal diagnosis of Down's syndrome, meningomyelocele, and Duchenne muscular dystrophy.

Full text

PDF
275

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bartsch F. K., Lundberg J., Wahlström J. The technique, results and risks of amniocentesis for genetic reasons. J Obstet Gynaecol Br Commonw. 1974 Dec;81(12):991–994. doi: 10.1111/j.1471-0528.1974.tb00420.x. [DOI] [PubMed] [Google Scholar]
  2. Brock D. J., Scrimgeour J. B., Nelson M. M. Amniotic fluid alphafetoprotein measurements in the early prenatal diagnosis of central nervous system disorders. Clin Genet. 1975 Feb;7(2):163–169. doi: 10.1111/j.1399-0004.1975.tb00313.x. [DOI] [PubMed] [Google Scholar]
  3. Holmes L. B., Driscoll S. G., Atkins L. Etiologic heterogeneity of neural-tube defects. N Engl J Med. 1976 Feb 12;294(7):365–369. doi: 10.1056/NEJM197602122940704. [DOI] [PubMed] [Google Scholar]
  4. Kardon N. B., Chernay P. R., Hsu L. Y., Martin J. L., Hirschhorn K. Pitfalls in prenatal diagnosis resulting from chromosomal mosaicism. J Pediatr. 1972 Feb;80(2):297–299. doi: 10.1016/s0022-3476(72)80597-3. [DOI] [PubMed] [Google Scholar]
  5. Kassirer J. P. The principles of clinical decision making: an introduction to decision analysis. Yale J Biol Med. 1976 May;49(2):149–164. [PMC free article] [PubMed] [Google Scholar]
  6. Katayama K. P., Park I. J., Heller R. H., Barakat B. Y., Preston E., Jones H. W., Jr Errors of prenatal cytogenetic diagnosis. Obstet Gynecol. 1974 Nov;44(5):693–698. [PubMed] [Google Scholar]
  7. Laforet E. G. The fiction of informed consent. JAMA. 1976 Apr 12;235(15):1579–1584. [PubMed] [Google Scholar]
  8. Leonard C. O., Chase G. A., Childs B. Genetic counseling: a consumers' view. N Engl J Med. 1972 Aug 31;287(9):433–439. doi: 10.1056/NEJM197208312870904. [DOI] [PubMed] [Google Scholar]
  9. László J., Gaál M., Bösze P. Source of error in prenatal sex determination. Lancet. 1972 Dec 23;2(7791):1367–1367. doi: 10.1016/s0140-6736(72)92810-3. [DOI] [PubMed] [Google Scholar]
  10. McNeil B. J., Adelstein S. J. Measures of clinical efficacy. The value of case finding in hypertensive renovascular disease. N Engl J Med. 1975 Jul 31;293(5):221–226. doi: 10.1056/NEJM197507312930503. [DOI] [PubMed] [Google Scholar]
  11. McNeil B. J., Keller E., Adelstein S. J. Primer on certain elements of medical decision making. N Engl J Med. 1975 Jul 31;293(5):211–215. doi: 10.1056/NEJM197507312930501. [DOI] [PubMed] [Google Scholar]
  12. Mikkelsen M., Stene J. Genetic counselling in Down's syndrome. Hum Hered. 1970;20(5):457–464. doi: 10.1159/000152346. [DOI] [PubMed] [Google Scholar]
  13. Milunsky A., Alpert E. Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol. 1976 Jul;48(1):1–5. [PubMed] [Google Scholar]
  14. Milunsky A., Alpert E. Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol. 1976 Jul;48(1):6–12. [PubMed] [Google Scholar]
  15. Milunsky A., Alpert E. The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr. 1974 Jun;84(6):889–893. doi: 10.1016/s0022-3476(74)80776-6. [DOI] [PubMed] [Google Scholar]
  16. Milunsky A., Atkins L. Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA. 1974 Oct 14;230(2):232–235. [PubMed] [Google Scholar]
  17. Milunsky A. Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med. 1975 Oct 30;293(18):932–933. doi: 10.1056/NEJM197510302931816. [DOI] [PubMed] [Google Scholar]
  18. Munsat T. L., Baloh R., Pearson C. M., Fowler W., Jr Serum enzyme alterations in neuromuscular disorders. JAMA. 1973 Dec 24;226(13):1536–1543. [PubMed] [Google Scholar]
  19. Pauker S. G. Coronary artery surgery: the use of decision analysis. Ann Intern Med. 1976 Jul;85(1):8–18. doi: 10.7326/0003-4819-85-1-8. [DOI] [PubMed] [Google Scholar]
  20. Pauker S. G. Editorial: Coronary surgery: when, where and for whom? N Engl J Med. 1975 Dec 25;293(26):1369–1370. doi: 10.1056/NEJM197512252932611. [DOI] [PubMed] [Google Scholar]
  21. Pauker S. G., Kassirer J. P. Therapeutic decision making: a cost-benefit analysis. N Engl J Med. 1975 Jul 31;293(5):229–234. doi: 10.1056/NEJM197507312930505. [DOI] [PubMed] [Google Scholar]
  22. Pearn J. H. Patients' subjective interpretation of risks offered in genetic counselling. J Med Genet. 1973 Jun;10(2):129–134. doi: 10.1136/jmg.10.2.129. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Pernoll M. L., Prescott G. H., Hecht F., Olson C. L. Prenatal diagnosis: practice, pitfalls, and progress. Obstet Gynecol. 1974 Nov;44(5):773–783. [PubMed] [Google Scholar]
  24. Reiss J. A., Menashe V. D. Genetic counseling and congenital heart disease. J Pediatr. 1972 Apr;80(4):655–656. doi: 10.1016/s0022-3476(72)80069-6. [DOI] [PubMed] [Google Scholar]
  25. Robinson J., Tennes K., Robinson A. Aminocentesis: its impact on mothers and infants. A 1-year follow-up study. Clin Genet. 1975 Aug;8(2):97–106. doi: 10.1111/j.1399-0004.1975.tb04397.x. [DOI] [PubMed] [Google Scholar]
  26. Schwartz W. B., Gorry G. A., Kassirer J. P., Essig A. Decision analysis and clinical judgment. Am J Med. 1973 Oct;55(3):459–472. doi: 10.1016/0002-9343(73)90203-9. [DOI] [PubMed] [Google Scholar]
  27. Wahlström J., Bartsch F. K., Lundberg J. Prenatal chromosome determination. A study of 219 cases. Clin Genet. 1974;6(3):184–191. doi: 10.1111/j.1399-0004.1974.tb00648.x. [DOI] [PubMed] [Google Scholar]

Articles from The Yale Journal of Biology and Medicine are provided here courtesy of Yale Journal of Biology and Medicine

RESOURCES