Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses

Korean Journal of Laboratory Medicine

Volumn 28, Issue 5, 2008, Pages 378-385

  Han, Sung Hee ^a   An, Jeong Wook ^a   Jeong, Gyu Young ^b   Yoon, Hye Ryoung ^a   Lee, Anna ^a   Yang, Young Ho ^a   Lee, Kyu Pum ^a   Lee, Kyoung Ryul ^a  

^a Seoul Medical Science Institute   (South Korea)

^b JungAng General Hospital   (South Korea)

Author keywords

Amniocentesis; Chromosomal abnormalities; Genetic counseling; Prenatal diagnosis

Indexed keywords

ADULT; AGE DISTRIBUTION; AMNIOCENTESIS; ARTICLE; CYTOGENETICS; DOWN SYNDROME; FEMALE; GENE TRANSLOCATION; GENETIC COUNSELING; HUMAN; PREDICTION AND FORECASTING; PREGNANCY; RETROSPECTIVE STUDY; SECOND TRIMESTER PREGNANCY; SEX CHROMOSOME ABERRATION; TRISOMY;

ADULT; AGE DISTRIBUTION; AMNIOCENTESIS; CYTOGENETICS; DOWN SYNDROME; FEMALE; GENETIC COUNSELING; HUMANS; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; RETROSPECTIVE STUDIES; SEX CHROMOSOME ABERRATIONS; TRANSLOCATION, GENETIC; TRISOMY; YOUNG ADULT;

EID: 58149401897     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2008.28.5.378     Document Type: Article

References (31)

1. Dallaire L. Integration of prenatal diagnosis of genetic diseases into medical practice. Can Med Assoc J 1976;115: 713-4.
2. Caron L, Tihy F, Dallaire L. Frequencies of chromosomal abnormalities at amniocentesis: over 20 years of cytogenetic analyses in one laboratory. Am J Med Genet 1999;15:149-54. (Pubitemid 29055068)
3. Hook EB and Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies, difference between studies results by sex and severity of phenotypic involvement. In: Hook EB and Porter H, eds. Population cytogenetics studies in humans. 1st ed. New York: Academic Press, 1977:63-79.
4. Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 1983; 249:2034-8. (Pubitemid 13162028)
5. Milunsky A and Atkins L. The frequency of chromosomal abnormalities diagnosed prenatally. In: Hook EB and Porter H, eds. Population cytogenetics, studies in humans. 1st ed. New York: Academic Press, 1977:11-25.
6. Verma RS and Babu A. Tissue culture techniques and chromosome preparation. In: Verma RS and Babu A, eds. Human chromosomes principles and techniques. 2nd ed. New York: McGraw-Hill Press, 1995:6-71.
7. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;30:971-2.
8. Karaoguz MY, Bal F, Yakut T, Ercelen NO, Ergun MA, Gokcen AB, et al. Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study. Genet Couns 2006;17:219-30. (Pubitemid 44317760)
9. Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol 2006;45:39-41.
10. Jang SK and Choi OH. Cytogenetic and clinical analysis in 3, 537 cases of midtrimester amniocentesis. Korean J Perinatol 2007;18:29- 36.
11. Choi SJ, Kim WS, Kim JU, Lee ES, Cho EH, Kim SH, et al. Cytogenetic and clinical analysis of midtrimester amniocentesis. Korean J Obstet Gynecol 2005;48:1420-30.
12. Shim JY, Kim SH, Kim JS, Ahn SM, Seo EJ, Yoo HW, et al. Clinical analysis of prenatal cytogenetic diagnoses: four-year experience at Asan medical center. Korean J Obstet Gynecol 2004;47:487-94.
13. Park IY, Shin JC, Kim SC, Ahn HY, Moon HB, Park CH, et al. Cytogenetic analysis in 3, 503 cases of midtrimester amniocentesis: CUMC experience (II). Korean J Obstet Gynecol 2004;47:96-103.
14. Kim YJ. Cytogenetic analysis in 651 cases of amniocentesis. Korean J Lab Med 2002;22:208-12.
15. Kim HJ, Lee SM, Kim EJ, Cho EN, Park SY, Kang KH, et al. A review of prenatal cytogenetic analysis in 2942 midtrimester amniocentesis. Korean J Obstet Gynecol 2001;44:1109-14.
16. Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 1976;236:1471-6.
17. Simpson NE, Dallaire L, Miller JR, Siminovich L, Hamerton JL, Miller J, et al. Prenatal diagnosis of genetic disease in Canada: report of a collaborative study. Can Med Assoc J 1976;23:739-48.
18. Dewald G. Cytogenetics. In: McClatchey KD, ed. Clinical laboratory medicine. 1st ed. Baltimore: Williams & Wilkins, 1994: 643-5.
19. Gardner RJM and Sutherland GR, eds. Chromosome abnormalities and genetic counseling. 3rd ed. New York: Oxford University Press, 2004:252-6.
20. Unger E and Pincus MR. Molecular pathology. In: Mcpherson RA and Pincus MR, eds. Clinical diagnosis and management by laboratory methods. 21st ed. Philadelphia: WB Saunders, 2007:1276-7.
21. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997;6:471-83. (Pubitemid 28134889)
22. Sybert VP. Turner syndrome. In: Cassidy SB and Allanson JE, eds. Management of genetic syndromes. 1st ed. New York: Wiley-Liss, 2001:459-84.
23. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, et al. Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992;88:288-94.
24. Fernandez-Garcia R, Garcia-Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of 'hidden' mosaicism. Clin Genet 2000;58:201-8.
25. Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin MR, et al. Turner syndrome: evaluation of prenatal diagnosis in 19 European registries. Am J Med Genet A 2004;129:16-20. (Pubitemid 38989037)
26. Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endorinol Metab 2000;85:3199- 202.
27. Huang B, Thangavelu M, Bhatt S, J Sandlin C, Wang S. Prenatal diagnosis of 45, X and 45, X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenata Diagn 2002;22:105-10. (Pubitemid 34193183)
28. Hsu LY. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky A. ed. Genetic disorders and the fetus: diagnosis, prevention, and treatment. 4th ed. Baltimore: The Johns Hopkins University Press, 1998:179-248.
29. Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998;75:367-81. (Pubitemid 28079653)
30. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. Supernumerary marker chromosomes detected in 100, 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenata Diagn 2006;26:1142-50. (Pubitemid 44935278)
31. Yang YH, Ju KS, Kim SB, Cho YH, Lee JH, Lee SH, et al. The Korean collaborative study on 11, 000 prenatal genetic amniocentesis. Yonsei Med J 1999;40:460-6.