Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects

American Journal of Obstetrics and Gynecology

Volumn 191, Issue 6, 2004, Pages 2068-2073

  Moore, Jay W ^a,b   Binder, Gayle A ^a   Berry, Rebecca ^a  

^a Genzyme Genetics   (Argentina)

^b Genzyme Genetics   (United States)

Author keywords

Aneuploidy; Congenital heart defect; Deletion 22q11.2; Prenatal diagnosis; Ultrasound abnormality

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIAGNOSTIC IMAGING; FETUS; FETUS ELECTROCARDIOGRAPHY; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR;

ADOLESCENT; ADULT; ANEUPLOIDY; CHROMOSOME DELETION; FEMALE; FOLLOW-UP STUDIES; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; REGISTRIES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; ULTRASONOGRAPHY, PRENATAL;

EID: 10044283962     PISSN: 00029378     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajog.2004.05.022     Document Type: Article

References (26)

1. C. van Karnebeek, and R. Hennekam Associations between chromosomal anomalies and congenital heart defects: a database search Am J Med Genet 84 1999 158 166
2. D. Paladini, M. Russo, A. Teodoro, G. Pacileo, G. Capozzi, and D. Martinelli Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999: the experience of a joint fetal-pediatric cardiology unit Prenat Diagn 22 2002 545 552
3. C. Comas Gabriel, A. Galindo, J.M. Martinez, J.M. Carrera, J.F. Gutierrez-Larraya, and P. de la Fuente Early prenatal diagnosis of major cardiac anomalies in a high-risk population Prenat Diagn 22 2002 586 593
4. D. Driscoll Prenatal diagnosis of the 22q11.2 deletion syndrome Genet Med 3 2001 14 18
5. D. Driscoll, M. Budarf, and B. Emanuel A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 Am J Hum Genet 50 1992 924 933
6. M. Schinke, and S. Izumo Deconstructing DiGeorge syndrome Nat Genet 27 2001 238 240
7. R. Shprintzen, R. Goldberg, D. Young, and L. Wolford The velo-cardio-facial syndrome: a clinical and genetic analysis Pediatrics 67 1981 167 172
8. R. Shprintzen Velocardiofacial syndrome and DiGeorge sequence J Med Genet 31 1994 423 424
9. H. De Decker, and J. Lawrenson The 22q11.2 deletion: from diversity to a single gene theory Genet Med 3 2001 2 5
10. D. McDonald-McGinn, R. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher, and M. Gerdes The Philadelphia Story: the 22q11.2 deletion: report on 350 patients Genetic Counseling 10 1999 11 24
11. D. McDonald-McGinn, D.A. Driscoll, S. Saitta, A. Jawad, M. Tonneson, and E. Ming Guidelines for prenatal detection of the 22q11.2 deletion [abstract] Am J Hum Genet 71 suppl 2002 173A
12. R. Matsuoka, M. Kimura, P. Scambler, B.E. Morrow, S. Imamura, and S. Minoshima Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome Hum Genet 103 1998 70 80
13. A. Levy-Mozziconacci, C. Piquet, P. Heurtevin, and N. Philip Prenatal diagnosis of 22q11 microdeletion Prenat Diag 17 1997 1033 1037
14. E. Cohen, E. Chow, R. Weksberg, and A. Bassett Phenotype of adults with the 22q11 deletion syndrome: a review Am J Med Genet 86 1999 359 365
15. R. Berry, J. Horwitz, S. Bhatt, M. Shaham, R. Miller, and J. Moore A 1-year prospective study of the incidence of the 22q11.2 deletion in 303 fetuses with heart defects [abstract] Am J Hum Genet 69 2001 207A
16. J. Simpson The cardiac echogenic focus Prenat Diag 19 1999 972 975
17. B. Dallapiccola, A. Pizzuti, and G. Novelli How many breaks do we need to CATCH on 22q11? Am J Hum Genet 59 1996 7 11
18. Z. Saliba, J. Le Bidois, D. Sidi, J. Kachaner, and D. Bonnet Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion Prenat Diag 19 1999 260 262
19. S. Manji, J. Roberson, A. Wiktor, S. Vats, P. Rush, and S. Diment Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect Genet Med 3 2001 65 66
20. Y. Boudjemline, L. Fermont, J. Le Bidois, E. Villain, D. Sidi, and D. Bonnet Can we predict 22q11 status of fetuses with tetralogy of Fallot? Prenat Diagn 22 2002 231 234
21. T. Shaikh, H. Kurahashi, S. Saitta, A.M. O'Hare, P. Hu, and B.A. Roe Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis Hum Mol Genet 9 2000 489 501
22. T. Shaikh, H. Kurahashi, and B. Emanuel Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review Genet Med 3 2001 6 13
23. H. Kurahashi, K. Akagi, J. Inazawa, T. Ohta, N. Niikawa, and F. Kayatani Isolation and characterization of a novel gene deleted in DiGeorge syndrome Hum Mol Genet 4 1995 541 549
24. D. McDonald-McGinn, M. Tonnesen, A. Laufer-Cahana, B. Finacune, D.A. Driscoll, and B.S. Emanuel Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3 2001 23 29
25. M. Digilio, B. Marino, A. Giannotti, and B. Dallapiccola Familial deletions of chromosome 22q11 Am J Med Genet 73 1997 95 96
26. M. Iascone, S. Vittorini, M. Sacchelli, I. Spadoni, P. Simi, and S. Giusti Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission Am J Med Genet 108 2002 319 321