Genetic counseling in perinatal medicine

Obstetrics and Gynecology Clinics of North America

Volumn 24, Issue 1, 1997, Pages 1-17

  Milunsky, J M ^a   Milunsky, A ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; CHROMOSOME ABERRATION; DNA DAMAGE; ETHICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HUMAN; LABORATORY TEST; MEDICAL DECISION MAKING; MOSAICISM; PATIENT CARE; PERINATAL CARE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

EID: 0030934558     PISSN: 08898545     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8545(05)70286-2     Document Type: Article

References (63)

1. Ad Hoc Committee on Genetic Testing/Insurance Issues Background Statement: Genetic Testing and Insurance Am J Hum Genet 56 1995 327 331
2. E.D. Alberman M.R. Creasy Frequency of chromosomal abnormalities in miscarriages and perinatal deaths J Med Genet 14 1977 313
3. American Society of Human Genetics Board of Directors and the American College of Medical Genetics Board of Directors ASHG/ACMG Report: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents Am J Hum Genet 57 1995 1233 1241
4. A. Anguiano R.D. Oates J.A. Amos Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis JAMA 267 1992 1
5. E. Bakker H. Veenama J.T. Den Dunnen Germinal mosaicism increases the recurrence risk for “new” Duchenne muscular dystrophy mutations J Med Genet 26 1989 553
6. P.R. Billings M.A. Kohn M. deCuevas Discrimination as a consequence of genetic testing Am J Hum Genet 50 1992 476
7. J. Boue A. Boue P. Lazar Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions Teratology 12 1975 11
8. J. Brandt K.A. Quaid S.E. Folstein Presymptomatic diagnosis of delayed-onset disease with linked DNA markers: The experience in Huntington's disease JAMA 261 1989 3108
9. L.M. Brzustowicz B.A. Alitto D. Matseoane Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy Am J Hum Genet 54 1994 482 488
10. V. Campuzano L. Montermini M.D. Molot Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science 271 1996 1423 1427
11. S.B. Cassidy Uniparental disomy and genomic imprinting as causes of human genetic disease Environ Mol Mutagen 25 Suppl 1995 13 20 26
12. J.A. Cortner P.M. Coates C.A. Liacouras Familial combined hyperlipidemia in children: Clinical expression, metabolic defects, and management J Pediatr 123 1993 177
13. C.L. Deal Parental genomic imprinting Curr Opin Pediatr 7 1995 445 458
14. E. Engel A new genetic concept: Uniparental disomy and its potential effect, isodisomy Am J Med Genet 6 1980 137
15. E. Engel E. Delozier-Blanchet Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection Am J Med Genet 40 1991 432 439
16. J.A. Evans J.L. Hamerton A. Robinson Children and young adults with sex chromosome aneuploidy: Follow-up, clinical, and molecular studies. In March of Dimes Birth Defects: Original Article Series 1990 Wiley-Liss New York
17. J.H. Fanos J.P. Johnson Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing Am J Med Genet 59 1995 185 191
18. J.W. Gray A. Kallioniemi O. Kallioniemi Molecular cytogenetics: Diagnosis and prognostic assessment Curr Opin Biotechnol 3 1992 623 631
19. J.G. Hall Genomic imprinting: Review and relevance to human diseases Am J Hum Genet 46 1990 857 873
20. V.L. Hannig J.R. Hopkins H.K. Johnson Presymptomatic testing adult onset polycystic kidney disease in at-risk kidney transplant donors Am J Med Genet 40 1991 425
21. P.S. Harper Practical Genetic Counseling ed 2 1984 John Wright Bristol, England
22. P.C. Harris C.J. Ward B. Peral Autosomal dominant polycystic kidney disease: molecular analysis Hum Mol Gen 4 1995 1745 1749
23. D.E. Hoffman E.A. Wulfsberg Testing children for genetic predispositions: Is it in their best interest? J Law Med Ethics 23 1995 331 344
24. J.J. Hoo Alternative explanations for recurrent achondroplasia in siblings with normal parents Clin Genet 25 1984 553
25. L.Y.F. Hsu Prenatal diagnosis of chromosomal abnormalities through amniocentesis A. Milunsky Genetic Disorders and the Fetus ed 3 1992 Johns Hopkins University Press Baltimore 155 210
26. L.Y.F. Hsu Prenatal diagnosis of chromosome abnormalities A. Milunsky Genetic Disorders and the Fetus ed 2 1986 Plenum Press New York 115 183
27. K.L. Hudson K.H. Rothenberg L.B. Andrews Genetic Discrimination and Health Insurance: An Urgent Need for Reform Science 270 1995 391 393
28. International Huntington Association and World Federation of Neurology Ethical issues, policy statement on Huntington disease molecular genetics, and predictive tests J Med Genet 27 1990 34 38
29. International Huntington Association and World Federation of Neurology Guidelines for the molecular genetics predictive test in Huntington's disease Neurology 44 1994 1533 1536
30. D.K. Kalousek Confined placental mosaicism and uniparental disomy Func Dev Morphol 4 1994 93 98
31. D.K. Kalousek I. Barrett Genomic imprinting related to prenatal diagnosis Prenat Diagn 14 1994 1191 1201
32. M. Koenig A.H. Beggs M. Moyer The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion Am J Hum Genet 45 1989 498
33. D.H. Ledbetter D.H. Zachery J.M. Simpson Cytogenetic results from the U.S. collaborative study on CVS Prenat Diagn 12 1992 317 354
34. D.H. Ledbetter E. Engel Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis Hum Molec Genet 4 1995 1757 1764
35. Letters to the Editor Dizygous twinning and premature menopause in fragile X syndrome Lancet 344 1994 1500
36. M.G. Linden B.G. Bender A. Robinson Intrauterine diagnosis of sex chromosome aneuploidy Obstet Gynecol 87 1996 468 475
37. S. Malcolm J. Clayton-Smith M. Nichols Uniparental paternal disomy in Angelman's syndrome Lancet 337 1991 694
38. MRC Vitamin Study Research Group Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study Lancet 338 1991 131
39. D.S. Millar R.A. Steinbrech K. Wieland The molecular genetic analysis of haemophilia A: Characterization of six partial deletions in the factor VIII gene Hum Genet 86 1990 219
40. A. Milunsky Choices, not Chances: An Essential Guide to Your Heredity and Health 1989 Little, Brown Boston
41. A. Milunsky H. Jick S.S. Jick Multivitamin/folic acid supplementation in the earliest weeks of pregnancy reduces the prevalence of neural tube defects JAMA 262 1989 2847
42. A. Milunsky J.C. Skare J.M. Milunsky Prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes Am J Obstet Gynecol 164 1991 751
43. A. Milunsky Genetic counseling in prenatal and perinatal medicine E.A. Reece J.C. Hobbins M.J. Mahoney Medicine of the Fetus and Mother 1992 JB Lippincott Philadelphia
44. A. Milunsky Genetic Disorders and The Fetus: Diagnosis, Prevention, and Treatment ed 3 1992 Johns Hopkins University Press Baltimore
45. J.M. Milunsky J.C. Skare A. Milunsky Presymptomatic diagnosis of myotonic muscular dystrophy with linked DNA probes Am J Med Sci 301 1991 231
46. J.M. Milunsky H.E. Wyandt X.-L. Huang Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant Am J Med Genet 61 1996 269 273
47. R.D. Nicholls J.H.M. Knoll M.G. Butler Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome Nature 342 1989 281 285
48. K.L. O'Hoy C. Tsilfidis M.S. Mahadevan Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission Science 259 1993 809 812
49. M.Z. Pelias Duty to disclose in medical genetics: A legal perspective Am J Med Genet 39 1991 347 354
50. M. Plachot Chromosome analysis of oocytes and embryos Y. Verlinsky A. Kuliev Preimplantation Genetics 1991 Plenum Press New York 103
51. T.W. Prior A.C. Papp P.J. Snyder Germline mosaicism at the fragile X locus Am J Med Genet 55 1995 384 386
52. S.G. Ratcliffe N.P. Paul Prospective studies on children with sex chromosome aneuploidy. In : March of Dimes, Birth Defects: Original Article Series 1986 Alan R Liss New York 22
53. V.M. Riccardi R.A. Lewis Penetrance of von Recklinghausen neurofibromatosis: A distinction between predecessors and descendants Am J Hum Genet 42 1988 284
54. K.H. Rothenberg Genetic information and health insurance: State legislative approaches J Law Med Ethics 23 1995 312 319
55. E.S. Sachs M.G. Johoda J.D. Van Hemel Chromosome studies of 500 couples with two or more abortions Obstet Gynecol 65 1985 375
56. C.R. Scriver A.L. Beaudet W.S. Sly ed 7 The Metabolic and Molecular Bases of Inherited Disease vol 1 1995 McGraw-Hill, Inc. New York 806
57. G. Simoni B. Brambati F. Maggi Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy Ann Genet 35 1992 110 112
58. J.E. Spence R.G. Perciaccante G.M. Greig Uniparental disomy as a mechanism for human genetic disease Am J Hum Genet 42 1988 217 226
59. E. Sujansky S.B. Kreutzer A.M. Johnson Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease Am J Med Genet 35 1990 510
60. A.T. Tharapel S.A. Tharapel R.M. Bannerman Recurrent pregnancy losses and parental chromosome abnormalities: A review Br J Obstet Gynaecol 92 1985 899
61. E.G.D. Tuddenham Factor VIII and haemophilia A Clin Haematol 2 1989 849
62. A.J.H.M. Verkerk M. Pieretti J.S. Sutcliffe Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Cell 65 1991 905 914
63. D.I. Wilson J. Burn P. Scambler DiGeorge syndrome: Part of CATCH 22 J Med Genet 30 1993 852 856