Advances in Preconception Genetic Counseling

Journal of Perinatal and Neonatal Nursing

Volumn 18, Issue 1, 2004, Pages 28-40

  Wille, Marta C ^a   Weitz, Beth ^a   Kerper, Peggy ^a   Frazier, Stephanie ^a  

^a UNIVERSITY OF TENNESSEE MEDICAL CENTER   (United States)

Author keywords

Advanced maternal age; Cystic fibrosis; Ethnicity; Genetic counseling; Genetic testing; Preconception; Thrombophilia

Indexed keywords

ANAMNESIS; ETHNIC GROUP; FEMALE; GENETIC COUNSELING; GENETICS; HIGH RISK PREGNANCY; HUMAN; MATERNAL AGE; MATERNAL CARE; NEWBORN NURSING; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW; RISK FACTOR; STANDARD; THROMBOPHILIA; UNITED STATES;

ETHNIC GROUPS; FEMALE; GENETIC COUNSELING; HUMANS; MATERNAL AGE; MEDICAL HISTORY TAKING; NEONATAL NURSING; PRECONCEPTION CARE; PREGNANCY; PREGNANCY, HIGH-RISK; PRENATAL DIAGNOSIS; RISK FACTORS; THROMBOPHILIA; UNITED STATES;

EID: 2342442113     PISSN: 08932190     EISSN: 15505073     Source Type: Journal    
DOI: 10.1097/00005237-200401000-00004     Document Type: Article

References (60)

1. Wallace M, Hurwitz B. Preconception care: who need it, who wants it and how should it be provided? Br J Gen Pract. 1998;48:963-966.
2. Schrander-Stumpel C. Preconception care: challenge of the new millennium? Am J Med Genet.1999;89:58-61.
3. Koonin LM, Wilcox LS, deRavello L, Gonen JS. At work with the CDC: healthy pregnancies start with planning. Bus Health. 2001;1:55.
4. Forrest JD. Epidemiology of unintended pregnancy and contraceptive use. Am J Obstet Gynecol. 1994;170:1485-1489.
5. Hoyert DL, Freedman MA, Strobino DM, Guyer B. Annual summary of vital statistics: 2000. Pediatrics. 2001;108:1241-1255.
6. Cefalo RC, Moos MK. Preconceptional Health Care; A Practical Guide. 2nd ed. St Louis, Mo: Mosby; 1994.
7. Morrison EH. Periconception care. Prim Care. 2000;27:1-12.
8. Moos MK. Preconception Health Promotion: A Focus for Women's Wellness. White Plains, NY: March of Dimes; 2003.
9. American Academy of Pediatrics, Committee on Genetics. Folic acid for the prevention of neural tube defects. Pediatrics. 1999;104:325-327.
10. Centers for Disease Control and Prevention. Use of folic acid for prevention of spina bifida and other neural tube defects. Morb Mortal Wkly Rep. 1991;40:513-516.
11. Lockwood CJ. Inherited thrombophilias in pregnant patients: detection and treatment paradigm. Obstet Gynecol. 2002;99:333-341.
12. Nelson LJ. Preimplantation diagnosis. Clin Perinatol. 2003;30:67-80.
13. Lizcano LA, Lucena C, Lucena E. Methods in preimplantation genetic diagnosis. Reprod Biomed Online. 2001;2:20-31.
14. Michelmann HW, Gratz G, Hinney B. X-Y sperm selection: fact or fiction? Hum Reprod Genet Ethics. 2000;6:32-38.
15. Sills ES, Kirman I, Thatcher SS III, Palermo GD. Sex-selection of human spermatozoa: evolution of current techniques and applications. Arch Gynecol Obstet. 1998;261:109-115.
16. Johnson LA. Sex preselection by flow cytometric separation of X and Y chromosome-bearing sperm based on DNA difference: a review. Reprod Fertil Dev. 1995;7:893-903.
17. Jones SL, Fallon LA. Reproductive options for individuals at risk for transmission of a genetic disorder. J Obstet Gynecol Neonatal Nurs. 2002;31:193-199.
18. Rechitsky S, Strom C, Verlinsky O, et al. Accuracy of perimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. J Assist Reprod Genet. 1999;16:192-198.
19. Kuliev A, Verlinsky Y. Current features of preimplantation genetic diagnosis. Reprod Biomed Online. 2002;5:294-299.
20. Kolata G. Using Genetic Tests, Ashkenazi Jews Vanquish a Disease. New York Times. February 18, 2003:F1.
21. American College of Obstetricians and Gynecologists, American College of Medical Genetics. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: ACOG; 2001.
22. Demsey SA. Carrier screening for cystic fibrosis: a perinatal perspective. J Perinat Neonatal Nurs. 1999;13:14-26.
23. March of Dimes Birth Defects Foundation. Public Health Information Sheet: Tay Sachs Disease. Wilkes-Barre, Pa: MOD; 1997.
24. American College of Obstetricians and Gynecologists. Committee on Genetics, Committee Opinion: Screening for Tay-Sachs Disease, no. 162. Washington, DC: ACOG; 1995.
25. Askenazi Jewish Carrier Screening. Genzyme Corporation-Genetics Website. 2002. Available at:. Accessed September 11, 2003.
26. American College of Obstetricians and Gynecologists. Committee on Genetics, Committee Opinion: Screening for Canavan disease, no. 212. Washington, DC: ACOG; 1998.
27. Seashore MR, Wappner RS. Blood disorders. In: Genetics in Primary Care and Clinical Medicine. Englewood Cliffs, NJ: Prentice-Hall; 1996.
28. American College of Obstetricians and Gynecologists. Technical Bulletin: Hemoglobinopathies in Pregnancy, no 220. Washington, DC: ACOG; 1996.
29. March of Dimes Birth Defects Foundation. Public Health Education Information Sheet: Thalassemia. Wilkes-Barre, Pa: MOD; 1994.
30. American College of Obstetricians and Gynecologists. Committee Opinion: Genetic Screening for Hemoglobinopathies, no 168. Washington, DC: ACOG; 1996.
31. Gardner RJ, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press; 1996.
32. American College of Obstetricians and Gynecologists. Educational Bulletin: Maternal Serum Screening, no 228. Washington, DC: ACOG; 1996.
33. Burton BK, Prins GS, Verp MS. A prospective trial of prenatal screening for Down syndrome by means of maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Am J Obstet Gynecol. 1993;169:526-530.
34. Palomaki GE, Haddow JE, Knight GJ, et al. Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestril and human chorionic gonadotropin. Prenat Diagn. 1995;15:713-723.
35. Wenstrom KD, Owen J, Chu DC, Boots L. Prospective evaluation of free-beta-subunit of human chorionic gonadotropin and dimeric inhibin A for aneuploidy detection. Am J Obstet Gynecol. 1999;181:887-892.
36. Wald NJ, Densem JW, George L, Muttukrishna S, Knight PG. Prenatal screening for Down's syndrome using inhibin-A as a serum marker. Prenat Diagn.1996;16:143-153.
37. Yaron Y, Cherry M, Kramer RL, et al. Second-trimester maternal serum marker screening: maternal serum alpha-fetoprotein, beta-human chrorionic gonadotropin, estriol, and their various combinations as predictors of pregnancy outcome. Am J Obstet Gynecol. 1999;181:968-974.
38. Hsieh TT, Hung TH, Hsu JJ, Shau WY, Su CW, Hsieh FJ. Prediction of adverse perinatal outcome by maternal serum screening for Down syndrome in an Asian population. Obstet Gynecol. 1997;89:937-940.
39. Krantz DA, Hallahan TW, Orlandi F, Buchanan P, Larsen JW, Macri JN. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol. 2000;96:207-213.
40. Cusick W, Buchanan P, Hallahan TW, Krantz DS, Larsen JW, Macri JN. Combined first-trimester versus second-trimester serum screening for Down syndrome: a cost analysis. Am J Obstet Gynecol. 2003;188:745-751.
41. Orlandi F, Damiani G, Hallahan TW, Krantz DA, Macri JN. First-trimester screening for fetal aneuploidy: biochemistry and nuchal translucency. Ultrasound Obstet Gynecol. 1997;10:381-386.
42. Otano L, Aiello H, Igarzabal L, Matayoshi T, Gadow EC. Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn. 2002;22:930-932.
43. Lockwood CJ. Inherited thrombophilias in pregnant patients. Prenat Neonatal Med. 2001;6:3-14.
44. Girling J, de Swiet M. Inherited thrombophilia and pregnancy. Curr Opin Obstet Gynecol. 1998;10:135-144.
45. Gris JC, Quere I, Monpeyroux F, et al. Case-control study of the frequency of thrombophilic disorders in couples with late foetal loss and no thrombotic antecedent: the Nimes Obstetricians and Haematologists Study 5 (NOHAS). Thromb Haemost. 1999;81:891-899.
46. Kupferminc MJ, Eldor A, Steinman N, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med. 1999;340:9-13.
47. Katz VL. Detecting thrombophilia in ob/gyn patients. Contemp OB/GYN. 2002;10:68-86.
48. Hooper WC, Evatt BL. The role of activated protein C resistance in the pathogenesis of venous thromobosis. Am J Med Sci. 1998;316:120-128.
49. Kingdom JC, Kaufmann P. Oxygen and placental villous development: origins fetal hypoxia. Placenta. 1997;18:613-621.
50. Kohler HP, Grant PJ. Plasminogen-activator inhibitor type 1 and coronary artery disease. N Engl J Med. 2000;342:1792-1801.
51. Glueck CJ, Phillips H, Cameron D, et al. The 4G/4G polymorphism of the hypofibrinolytic plasminogen activator inhibitor type 1 gene: an independent risk factor for serious pregnancy complications. Metabolism. 2000;49:845-852.
52. Samuels P. Hematologic complications of pregnancy. In: Gabbe S, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies (4th ed). New York: Churchill Livingstone; 2002:1187.
53. American College of Obstetricians and Gynecologists. Technical Bulletin Antiphospholipid syndrome. Washington, DC: ACOG; 1998.
54. Rai R, Regan L. Antiphospholipid antibodies, infertility. Curr Opin Obstet Gynecol. 1997;9:279-282.
55. Reich LM, Bower M, Key NS. Role of the geneticist in testing and counseling for inherited thrombophilia. Genet Med. 2003;5:133-143.
56. Kupferminc MJ, Fait G, Many A, et al. Low-molecular-weight heparin for the prevention of obstetric complications in women with thrombophilias. Hypertens Pregnancy. 2001;20:35-44.
57. Jones SL. Reproductive genetic technologies: exploring ethical and policy implications. AWHONN Lifelines. 2000;4:33-36.
58. Scanlon C, Fibison W. Managing Genetic Information: Implications for Nursing practice. Washington, DC: American Nurses Publishing; 1995.
59. American Nurses Association. Code of Ethics for nurses With Interpretive statements. Washington, DC: American Nurses Publishing; 2001.
60. American Association of Women's Health. Obstetric and Neonatal Nurses Standards for Professional Nursing Practice in the Care of Women and Newborns. 6th ed. Washington, DC: AWHONN; 2003.