Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)

  • An, Gye-Hyeong (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Choi, Kyu-Hong (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Yang, Jae-Hyug (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kim, Moon-Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Han, Jung-Yeol (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Park, So-Yeon (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Bom-Yi (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Da-Eun (Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Ryu, Hyun-Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
  • Received : 2012.05.31
  • Accepted : 2012.06.21
  • Published : 2012.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Purpose: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. Materials and Methods: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. Results: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). Conclusion: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.

Keywords

References

  1. Bender BG, Linden MG, Robinson A. Neuropsychological impairment impairment in 42 adolescents with sex chromosome abnormalities. Am J Med Genet 1993;48:69-73.
  2. Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997;17:363-8. https://doi.org/10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O
  3. Hall JG, Gilchrist DM. Turner syndrome and its variant. Pediatr Clin North Am 1990;37:1421-40. https://doi.org/10.1016/S0031-3955(16)37018-3
  4. Bender B, Fry E, Pennington B, Puck M, Salbenblatt J, Robinson A. Speech and language development in 41 children with sex chromosome anomalies. Pediatrics 1983;71:262-7.
  5. Abramsky L, Hall S, Levitan J, Marteau TM. What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study. BMJ 2001;322:463-6. https://doi.org/10.1136/bmj.322.7284.463
  6. Nielsen J. Follow-up of 25 unselected children with sex chromosome abnormalities to age 12. Birth Defects Orig Artic Ser 1990;26:201-7.
  7. Linden MG, Bender BG, Robinson A. Intrauterine diagnosis of sex chromosome aneuploidy. Obstet Gynecol 1996;87:468-75. https://doi.org/10.1016/0029-7844(95)00419-X
  8. Christian SM, Koehn D, Pillay R, MacDougall A, Wilson RD. Parental decisions following prenatal diagnosis of sex chromosome abnormality: a trend over time. Prenat Diagn 2000;20:37-40. https://doi.org/10.1002/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G
  9. Evans JA, MacDonald K, Hamerton JL. Sex chromosome anomalies: prenatal diagnosis and the need for continued prospective studies. Birth Defects Orig Artic Ser 1990;26:273-81.
  10. Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J. Low rates of pregnancy termination for prenatally diagnosed sex chromosome polysomies. Am J Med Genet 1998;80:330-4. https://doi.org/10.1002/(SICI)1096-8628(19981204)80:4<330::AID-AJMG6>3.0.CO;2-7
  11. Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156-67.
  12. Robinson A, Bender BG, Linden MG. Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am J Med Genet 1992;44: 365-8. https://doi.org/10.1002/ajmg.1320440319
  13. Jacobs PA. The incidence and etiology of sex chromosome abnormalities in man. Birth Defects Orig Artic Ser 1979;15:3-14.
  14. Cradall BF, Labherz TB, Rubinstein L, Robertson RD, Sample WF, Sarti D, et al. Chromosome findings in 2500 second trimester amniocenteses. Am J Med Genet 1980;5:345-56. https://doi.org/10.1002/ajmg.1320050405
  15. Kim YJ, Ryu HM, Park SY, Kim MY, Han JY, Yang JH, et al. Parental Decisions of Prenatally Detected Sex Chromosome Abnormality. J Korean Med Sci 2002;17:53-7. https://doi.org/10.3346/jkms.2002.17.1.53
  16. Balkan M, Kalkanli S, Akbas H, Yalinkaya A, Alp MN, Budak T. 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 Couns 2010;19:241-6. https://doi.org/10.1007/s10897-009-9275-3
  17. Christian SM, Koehn D, Pillay R, MacDougall A, Wilson RD. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: A trend over time. Prenat Diagn 2000;20:37-40. https://doi.org/10.1002/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G
  18. Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J. Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. Am J Med Genet 1998;80:330-4. https://doi.org/10.1002/(SICI)1096-8628(19981204)80:4<330::AID-AJMG6>3.0.CO;2-7
  19. Shaw SW, Chueh HY, Chang SD, Cheng PJ, Hsieh TT, Soong YK. Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan. Aust N Z J Obstet Gynaecol 2008;48:155-9. https://doi.org/10.1111/j.1479-828X.2008.00828.x
  20. Marteau T, Drake H, Reid M, Feijoo M, Soares M, Nippert I, et al. Counselling following diagnosis of fetal abnormality: a comparison between German, Portuguese and UK geneticists. Eur J Hum Genet 1994;2:96-102. https://doi.org/10.1159/000472349
  21. Christian SM, Koehn D, Pillay R, MacDougall A, Wilson RD. Parental decisions following prenatal diagnosis of sex chromosome abnormality: a trend over time. Prenat Diagn 2000;20:37-40. https://doi.org/10.1002/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G