Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 152-158 , June 2009

Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays

  • Yung-Kuei Soong

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Yung-Kuei Soong, Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, 5, Fu-Hsing Street, Tao-Yuan 333, Taiwan
  • ,
  • Tzu-Hao Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
  • ,
  • Yun-Shien Lee

      Affiliations

    • Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
    • Department of Biotechnology, Ming-Chuan University, Tao-Yuan, Taiwan
  • ,
  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology and Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
  • ,
  • Chia-Lin Chang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
  • ,
  • Szu-Ying Ho

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
    • Department of Obstetrics and Gynecology, Cathay General Hospital, Hsinchu branch, Hsinchu, Taiwan
  • ,
  • An-Shine Chao

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
  • ,
  • Po-Jen Cheng

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
  • ,
  • Shuenn-Dyh Chang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan

,Accepted 10 March 2009.

References 

  1. Shaffer LG , Agan N , Goldberg JD , Ledbetter DH , Longshore JW , Cassidy SB . American College of Medical Genetics statement of diagnostic testing for uniparental disomy . Genet Med . 2001;3:206–211
  2. Spence JE , Perciaccante RG , Greig GM , et al.   Uniparental disomy as a mechanism for human genetic disease . Am J Hum Genet . 1988;42:217–226
  3. Wolstenholme J . Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization . Prenat Diagn . 1996;16:511–524
  4. Robinson WP , Barrett IJ , Bernard L , et al.   Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction . Am J Hum Genet . 1997;60:917–927
  5. Lestou VS , Kalousek DK . Confined placental mosaicism and intrauterine fetal growth . Arch Dis Child Fetal Neonatal Ed . 1998;79:223–226
  6. Johnson P, Duncan K, Blunt S, Bell G, Ali Z, Cox P, et al. Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report . Prenat Diagn . 2000;20:417–421
  7. Kalousek DK , Langlois S , Barrett I , et al.   Uniparental disomy for chromosome 16 in humans . Am J Hum Genet . 1993;52:8–16
  8. Bruce S , Leinonen R , Lindgren CM , et al.   Global analysis of uniparental disomy using high density genotyping arrays . J Med Genet . 2005;42:847–851
  9. Lee YS , Chao A , Chao AS , et al.   CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH) . J Biomed Sci . 2008;15:687–696
  10. Lee YS , Tsai CN , Tsai CL , et al.   Comparison of whole genome amplification methods for further quantitative analysis with microarray-based comparative genomic hybridization . Taiwan J Obstet Gynecol . 2008;47:32–41
  11. Chen CP , Chern SR , Wang TH , et al.   Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia . Prenat Diagn . 2005;25:492–496
  12. Peng HH , Wang CJ , Wang TH , Chang SD . Prenatal diagnosis of de novo interstitial 2q14.2–2q21.3 deletion assisted by array-based comparative genomic hybridization: a case report . J Reprod Med . 2006;51:438–442
  13. Chen CP , Lin SP , Wang TH , Chen YJ , Chen M , Wang W . Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome . Prenat Diagn . 2006;26:725–729
  14. Chen CP , Wang TH , Chen YJ , et al.   Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1 . Prenat Diagn . 2007;27:967–969
  15. Papadogiannakis N , Iwarsson E , Taimi T , Zaphiropoulos PG , Westgren M . Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants . Am J Obstet Gynecol . 2008;198:231; e1–7.
  16. Kalousek DK , Dill FJ . Chromosomal mosaicism confined to the placenta in human conceptions . Science . 1983;221:665–667
  17. Artan S , Basçaran N , Hassa H , et al.   Confined placental mosaicism in term placentae: analysis of 125 cases . Prenat Diagn . 1995;15:1135–1142
  18. Wilkins-Haug L , Roberts DJ , Morton CC . Confined placental mosaicism and intrauterine growth retardation: a casecontrol analysis of placentas at delivery . Am J Obstet Gynecol . 1995;172:44–50
  19. Engel E . Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the “Likon” concept) . Ann Genet . 1997;40:24–34
  20. Groli C , Cerri V , Tarantini M , et al.   Maternal serum screening and trisomy 16 confined to the placenta . Prenat Diagn . 1996;16:685–689
  21. Nicolaides KH , Heath V , Cicero S . Increased fetal nuchal translucency at 11–14 weeks . Prenat Diagn . 2002;22:308–315
  22. Hyett J . Does nuchal translucency have a role in fetal cardiac screening? . Prenat Diagn . 2004;24:1130–1135
  23. 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
  24. Balmer D , Baumer A , Röthlisberger B , Schinzel A . Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta . Prenat Diagn . 1999;19:1061–1064
  25. Roberts E , Dunlop J , Davis GS , Churchill D , Davison EV . A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome . Prenat Diagn . 2003;23:564–565
  26. Redaelli S , Sala E , Roncaglia N , et al.   Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature . Prenat Diagn . 2005;25:140–147
  27. Robinson WP , McGillivray B , Lewis ME , Arbour L , Barrett I , Kalousek DK . Prenatally detected trisomy 20 mosaicism . Prenat Diagn . 2005;25:239–244
  28. Neiswanger K , Hohler PM , Hively-Thomas LB , McPherson EW , Hogge WA , Surti U . Variable outcomes in mosaic trisomy 16: five case reports and literature analysis . Prenat Diagn . 2006;26:454–461

PII: S1028-4559(09)60277-1

doi: 10.1016/S1028-4559(09)60277-1

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 152-158 , June 2009