Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

  • Seong, Eui Sun (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Youn, Hye Jin (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Park, Min Kyung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Boo, Hye Yeon (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Lee, Bom Yi (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Ryu, Hyun Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) ;
  • Han, You Jung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine)
  • Received : 2018.05.24
  • Accepted : 2018.06.12
  • Published : 2018.06.30
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Abstract

Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

Keywords

References

  1. Peng HH, Chao AS, Wang TH, Chang YL, Chang SD. Prenatally diagnosed balanced chromosome rearrangements: eight years' experience. J Reprod Med 2006;51:699-703.
  2. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:995-1013.
  3. Park S, Lee BY, Kim YM, Kim JM, Lee MH, Kim JW, et al. De novo chromosomal aberrations in the fetus; genetic counseling and clinical outcome. J Korean Med Sci 2003;18:397-401. https://doi.org/10.3346/jkms.2003.18.3.397
  4. Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 2012;367:2226-32. https://doi.org/10.1056/NEJMoa1208594
  5. Wassman ER, Cheyovich DL, Nakahara Y. “Possibly” de novo translocations: prenatal risk counseling. Am J Obstet Gynecol 1989;161:698-702. https://doi.org/10.1016/0002-9378(89)90383-9
  6. MacGregor DJ, Imrie S, Tolmie JL. Outcome of de novo balanced translocations ascertained prenatally. J Med Genet 1989;26:590-1. https://doi.org/10.1136/jmg.26.9.590
  7. Chen CP, Wu PC, Lin CJ, Su YN, Chern SR, Tsai FJ, et al. Balanced reciprocal translocations detected at amniocentesis. Taiwan J Obstet Gynecol 2010;49:455-67. https://doi.org/10.1016/S1028-4559(10)60098-8
  8. Tierney I, Axworthy D, Smith L, Ratcliffe SG. Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J Med Genet 1984;21:45-51. https://doi.org/10.1136/jmg.21.1.45
  9. Sinnerbrink IB, Sherwen A, Meiser B, Halliday J, Amor DJ, Waters E, et al. Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. Prenat Diagn 2013;33:831-8. https://doi.org/10.1002/pd.4131
  10. Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet 2009;52:291-6. https://doi.org/10.1016/j.ejmg.2009.05.011
  11. Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, et al. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes. Eur J Med Genet 2010;53:227-33. https://doi.org/10.1016/j.ejmg.2010.06.003
  12. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007;44:750-62. https://doi.org/10.1136/jmg.2007.052787