Reproductive decisions after fetal genetic counselling

Best Practice and Research: Clinical Obstetrics and Gynaecology

Volumn 26, Issue 5, 2012, Pages 517-529

  Pergament, Eugene ^a   Pergament, Deborah ^b  

^a Northwestern Reproductive Genetics Inc   (United States)

^b DEPAUL UNIVERSITY   (United States)

Author keywords

carrier screening; first and second trimester screening; preimplantation genetic diagnosis; prenatal diagnosis

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DOCTOR PATIENT RELATION; FAMILY RELATION; FETUS DISEASE; FETUS GENETIC DISEASE; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; HUMAN; MEDICAL DECISION MAKING; MEDICAL INFORMATION; MORALITY; NEURAL TUBE DEFECT; POPULATION GENETICS; PREGNANCY TERMINATION; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIGION; REPRODUCTIVE DECISION MAKING; SECOND TRIMESTER PREGNANCY; SOCIAL MEDIA;

ABORTION, INDUCED; DECISION MAKING; FEMALE; FETAL DISEASES; GENETIC COUNSELING; HUMANS; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; RISK;

EID: 84865488880     PISSN: 15216934     EISSN: 15321932     Source Type: Journal    
DOI: 10.1016/j.bpobgyn.2012.04.001     Document Type: Article

References (49)

1. K.L. Lawson, and R.A. Pierson Maternal decisions regarding prenatal diagnosis: rational choices or sensible decisions? J Obstet Gynaecol Can 29 2007 240 246
2. P. Santalahti, E. Hemminki, and A.-M. Latikka Women's decision-making in prenatal screening Soc Sci Med 46 1998 1067 1076
3. S. St-Jacques, S. Grenier, and M. Charland Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals Prenat Diagn 28 2008 1183 1203
4. C. Kobelka, A. Mattman, and S. Langlois An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result Prenat Diagn 29 2009 514 519
5. S. Markens, C.H. Browner, and H.M. Preloran Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making Soc Health Illness 32 2010 37 57
6. T.M. Marteau, and E. Dormandy Facilitating informed choice in prenatal testing: how well are we doing? Am J Med Genet 106 2001 185 190
7. P.G. Frets, H.J. Duivenvoorden, and F. Verhage Factors influencing the reproductive decision after genetic counseling Am J Med Genet 35 1990 496 502
8. P.G. Pryde, A. Drugan, and M.P. Johnson Prenatal diagnosis: choices women make abot pursuing testing and acting on abnormal results Clin Obstet Gynecol 36 1993 496 509
9. G.R. Rempel, L.M. Cender, and M.J. Lynam Parents' perspectives on decision making after antenatal diagnosis of congenital heart disease J Obstet Gynecol Neonatal Nurs 33 2003 64 70
10. K.B. Sheets, B.G. Crissman, and C. Feist Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the National Society of Genetic Counselors J Genet Counsel 20 2011 432 441
11. T.M. Marteau Prenatal testing: towards realistic expectations of patients, providers and policy makers Ultrasound Obstet Gynecol 19 2002 5 6
12. C. Mansfield, S. Hopfer, and T.M. Marteau Termination rates after prenatal diagnosis of Down syndrome, Spina Bifida, Anencephaly, and Turner and Kleinfelter syndromes: a systematic literature review Prenat Diagn 19 1999 808 812
13. M. Dommergues, L. Mandelbrot, and D. Mahieu-Caputo Termination of pregnancy following prenatal diagnosis in France: how severe are the foetal anomalies? Prenatal Diagn 30 2010 531 539
14. S.J. Hassed, C.H. Miller, and S.K. Pope Perinatal lethal conditions: the effect of diagnosis on decision making Obstet Gynaecol 82 1993 37 42
15. B.D. Blumberg, and M.S. Golbus Psychological sequelae of elective abortion West J Med 123 1975 188 193
16. M.S. Verp, A.T. Bombard, and J.L. Simpson Parental decision following prenatal diagnosis of fetal chromosome abnormality Am J Med Genet 29 1988 613 622
17. M. Balkan, S. Kalkanli, and H. Akbas Parental decisions regarding a prenatally detected fetal chromosomal abnormality and the impact of genetic counseling: an analysis of 38 cases with aneuploidy in Southeast Turkey J Genet Counsel 19 2010 241 246
18. A. Drugan, A. Greb, and M.P. Johnson Determinants of parental decisions to abort for chromosome abnormalities Prenat Diagn 10 1990 483 490
19. V.A. Vincent, J.G. Edwards, and Young Pregnancy termination because of chromosome abnormalities: a study of 26,950 amniocenteses in the Southeast South Med J 84 1991 1210 1213
20. H.A. Hamamy, and S. Dahoun Parental decisions following the prenatal diagnosis of sex chromosome abnormalities Eur J Obstet Gynecol Reprod Bio 116 2004 58 62
21. Committee Opinion No. 486. American College of Obstetricians and Gynecologists. Update on carrier screening for cystic fibrosis Obstet Gynecol 117 2011 1028 1031
22. M.S. Watson, G.R. Cutting, and R.J. Desnick Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel Genet Med 6 2004 387 391 [published errata appear in Genet Med 2005; 7: 286; Genet Med 2004; 6: 548]
23. Prior TW for the Professional Practice and Guidelines Committee, ACMG Practice Guidelines. Carrier screening for spinal muscular atrophy Genet Med 10 2008 840 842
24. C.M. Strom, B. Crossley, and J.B. Redman Molecular testing for Fragile X syndrome: lessons learned from 119,232 tests performed in a clinical laboratory Genet Med 9 2007 46 51
25. S.J. Gross, B.A. Pletcher, and K.G. Monaghan Carrier screening in individuals of Ashkenazi Jewish descent. ACMG Practice Guidelines Genet Med 10 2008 54 56
26. Y. Eitan, A. Abrahamov, and M. Phillips Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned? Prenat Diagn 30 2010 924 927
27. C. Ford, A.J. Moore, and P.A. Jordan The value of screening for Down's syndrome in a socioeconomically deprived area with a high ethnic population Br J Obstet Gynaecol 105 1998 855 859
28. V.N. Chilaka, J.C. Konje, and C.R. Stewart Knowledge of Down syndrome in pregnant women from different ethnic groups Prenat Diagn 21 2001 159 164
29. B. Khoshnood, C. De Vigan, and V. Vodovar A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000 BJOG 111 2004 485 490
30. R.E. Rowe, J. Garcia, and L.L. Davidson Social and ethnic inequalities in the offer and uptake of prenatal screening and diagnosis in the UK: a systematic review Public Health 118 2004 177 189
31. E. Dormandy, S. Michie, and R. Hooper Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women's attitudes or a failure to facilitate informed choices? Int J Epidemiol 34 2005 346 352
32. M. Kuppermann, L. Learman, and E. Gates Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome Obstet Gynecol 107 2006 1087 1097
33. M.P. Fransen, M.H. Schoonen, and J.P. Mackenbach Ethnic differences in participation in prenatal screening for Down syndrome: a register-based study Prenat Diagn 30 2010 988 994
34. K. Nicolaides A model for a new pyramid of prenatal care on the 11 too 13 weeks' assessment Prenat Diagn 31 2011 3 6
35. J. Fisher First-trimester screening: dealing with the fall-out Prenat Diagn 31 2011 46 49
36. E.R. Rauch, J.C. Smulian, and K. DePrince Pregnancy interruption after second trimester diagnosis of fetal structural anomalies: the New Jersey Fetal Abnormalities Registry Am J Obstet Gynecol 193 2005 1492 1497
37. S. Kjaergaard, K. Sundberg, and F.S. Jorgensen Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances Prenat Diagn 30 2010 995 999
38. W.C. Leung, J.J. Waters, and L. Chitty Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses Prenat Diagn 24 2004 790 795
39. C.M. Ogilvie, A. Lashwood, and L. Chitty The future of prenatal diagnosis: rapid testing or full karytoype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's syndrome testing BJOG 112 2005 1369 1375
40. E.M. Boosmans, E. Birnie, D. Oepkes MAKE study group members of the MAKE study group Individualized choice in prenatal diagnosis: the impact of karyotyping and standalone rapid aneuploidy detection on quality of life Prenat Diagn 30 2010 928 936
41. A.P. Souka, V.D. Michalitsi, and H. Skentou Attitudes of pregnant women regarding termination of pregnancy for fetal anomaly Prenat Diagn 30 2010 977 980
42. E. Pergament Preimplantation diagnosis: a patient perspective Prenat Diagn 11 1991 493 500
43. P.E. Hershberger, A. Gallo, and K. Kavanaugh A preliminary description of the decision-making process among high-genetic-risk couples considering PGD use Presented at International Prenatal Screen Group 9th Congress, Barcelona June, 2011
44. S. Rechitsky, O. Verlinsky, and A. Chistokhina Preimplantation genetic diagnosis for cancer predisposition Reprod Biomed Online 5 2002 148 155
45. Y. Verlinsky, S. Rechitsky, and W. Schoolcraft Preimplantation diagnosis for Fanconi anemia combined with HLA matching JAMA 285 2001 3130 3133
46. Benn P, Borrell A, Cuckle H, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis. www.ispdhome.org.
47. L.L. McCabe, and E.R.B. McCabe Down syndrome: coercion and eugenics Gene Med 13 2010 708 713
48. M. Van Riper, and H. Choi Family-provider interactions surrounding the diagnosis of Down syndrome Gene Med 13 2010 714 716
49. T.-H. Bui, A. Vetro, and O. Zuffardi Current controversies in prenatal diagnosis: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn 13 2011 235 243