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Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution

  • Chae, Yong Hwa (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kwak, Dong Wook (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) ;
  • Park, So Yeon (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Bom Yi (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Yeon Woo (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Young Ho (Department of Radiology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Song, Mi Jin (Department of Radiology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Ryu, Hyun Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
  • Received : 2013.11.25
  • Accepted : 2013.12.20
  • Published : 2013.12.31

Abstract

Purpose: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. Materials and methods: We retrospectively reviewed the medical and ultrasonographic records of 170 fetuses that underwent fluorescence in situ hybridization (FISH) analysis for chromosome 22q11.2 deletions between February 2001 and April 2013. Results: Among 145 fetuses with cardiac defects, six (4.1%) had 22q11.2 deletions. Deletions of 22q11.2 were detected in 6 (5%) of the 120 fetuses with conotruncal defects: 5 (8.9%) of 56 with tetralogy of Fallot (TOF) and 1 (5.9%) of 17 with double outlet right ventricle (DORV). No deletions were found in cases of pulmonary atresia, truncus arteriosus, right aortic arch, or transposition of the great arteries. No 22q11.2 deletions were found in non-conotruncal cardiac malformations. Among 25 fetuses with familial backgrounds of 22q11.2 deletions, one (4%) had a maternally inherited 22q11.2 deletion with no cardiac findings. Conclusion: Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling. It is advisable to perform FISH analysis for 22q11.2 deletions in pregnancies exhibiting conotruncal cardiac defects such as TOF or DORV.

Keywords

References

  1. Oskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004;89:148-51. https://doi.org/10.1136/adc.2003.026880
  2. Swillen A, Vogels A, Devriendt K, Fryns JP. Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitivebehavioral spectrum, and psychiatric complications. Am J Med Genet 2000;97:128-35. https://doi.org/10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z
  3. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH22. J Med Genet 1993;30:852-6. https://doi.org/10.1136/jmg.30.10.852
  4. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 2002; 51:77-88 https://doi.org/10.2302/kjm.51.77
  5. Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993;123:406-10. https://doi.org/10.1016/S0022-3476(05)81740-8
  6. Jouannic JM, Martinovic J, Bessieres B, Romana S, Bonnet D. Fluorescence in situ hybridization(FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion. Prenat Diagn 2003;23: 607-8. https://doi.org/10.1002/pd.657
  7. Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, et al. Clinical and molecular study of DiGeorge sequence. Eur J Pediatr 1994;153:813-20. https://doi.org/10.1007/BF01972889
  8. Cuneo BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001;13: 465-72 https://doi.org/10.1097/00008480-200110000-00014
  9. Pinkel D, Gray JW, Trask B, van den Engh G, Fuscoe J, van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol 1986;51:151-7. https://doi.org/10.1101/SQB.1986.051.01.018
  10. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000;9: 2421-6 . https://doi.org/10.1093/hmg/9.16.2421
  11. Driscoll DA, Budarf ML, Emanuel BS. Antenatal diagnosis of DiGeorge syndrome. Lancet 1991;338:1390-1.
  12. Agergaard P, Olesen C, Ostergaard JR, Christiansen M, Sorensen KM. Sorensen KM. The prevalence of chromosome 22q11.2 deletions in 2.478 children with cardiovascular malformations. A population-based study. Am J Med Genet A 2012;158A:498-508. https://doi.org/10.1002/ajmg.a.34250
  13. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Zackai EH, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998;32:492-8. https://doi.org/10.1016/S0735-1097(98)00259-9
  14. Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, el al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010;47:321-31. https://doi.org/10.1136/jmg.2009.070391
  15. Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010;105:1617-24. https://doi.org/10.1016/j.amjcard.2010.01.333
  16. Goldmuntz E. DiGeorge syndrome: New Insights. Clin Perinatol 2005;32:963-78. https://doi.org/10.1016/j.clp.2005.09.006
  17. Boudjemline Y, Fermont L, Le Bidois J, Villain E, Sidi D, Bonnet D. Can we predict 22q11 staus of fetuses with tetralogy of fallot? Prenat Diagn 2002;22:231-4. https://doi.org/10.1002/pd.295
  18. McElhinney DB, Clark BJ, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, et al. Association of chromosome 22q11.2 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001;37:2114-9. https://doi.org/10.1016/S0735-1097(01)01286-4
  19. Galindo A, Nieto O, Nieto MT, Rodríguez-Martín MO, Herraiz I, Escribano D, et al. Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings. Prenat Diagn 2009;29:975-81. https://doi.org/10.1002/pd.2327
  20. Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, et al. Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion. J Korean Med Sci 2002;17:125-8. https://doi.org/10.3346/jkms.2002.17.1.125