22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs

Prenatal Diagnosis

Volumn 23, Issue 9, 2003, Pages 752-757

  Volpe, Paolo ^a   Marasini, Maurizio ^b   Caruso, Gilda ^c   Marzullo, Andrea ^c   Buonadonna, Antonia Lucia ^d   Arciprete, Paolo ^a   Di Paolo, Salvatore ^c   Volpe, Gennaro ^a   Gentile, Mattia ^d  

^a DI VENERE HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

Author keywords

22q11 microdeletion; Conotruncal anomalies; Malformations of the outflow tracts; Thymus hypo aplasia

Indexed keywords

ADULT; AORTA ARCH ANOMALY; AORTA ARCH INTERRUPTION; ARTICLE; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIGEORGE SYNDROME; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FEASIBILITY STUDY; FEMALE; FETUS; FETUS DEATH; FETUS OUTCOME; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HEART OUTFLOW TRACT OBSTRUCTION; HUMAN; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN MORTALITY; PHENOTYPE; PREDICTION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR; SENSITIVITY AND SPECIFICITY; STATISTICAL SIGNIFICANCE; THYMUS; THYMUS DISEASE; THYMUS HYPOPLASIA; TREATMENT OUTCOME;

ABNORMALITIES, MULTIPLE; AORTA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; ECHOCARDIOGRAPHY; FEMALE; FETAL GROWTH RETARDATION; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INCIDENCE; ITALY; KARYOTYPING; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PREVALENCE; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL;

EID: 0141745950     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.682     Document Type: Article

References (21)

1. Barrea C, Yoo SJ, Chitayat D, et al. 2003. Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 23: 9-15.
2. Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D. 2001. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 138: 520-524.
3. Boudjemline Y, Fermont L, Le Bidois J, Villain E, Sidi D, Bonnet D. 2002. Can we predict 22q11 status of fetuses with tetralogy of fallot? Prenat Diagn 22: 231-234.
4. Chaoui R, Korner H, Bommer C. 2000. Prenatal assessment of the thymus in detecting fetuses with del 22q11. Ultrasound Obstet Gynecol 16: P82.
5. Chaoui R, Korner H, Bommer C, Kalache KD. 2002a. Fetal thymus and the 22ql 1.2 deletion. Prenat Diagn 22: 839-840.
6. Chaoui R, Kalache KD, Heling KS, Tennstedt C, Bommer C, Korner H. 2002b. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 20: 546-552.
7. Costell M, Carmona R, Gustafsson E, Gonzalez-Iriarte M, Fassler R, Munoz-Chapuli R. 2002. Hyperplasic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. Circ Res 26: 158-164.
8. Goldmuntz E, Clark BJ, Mitchell LE, et al, 1998. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32: 492-498.
9. Iserin L, de Lonlay P, Viot G, et al. 1998. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157: 881-884.
10. Lewin MB, Lindsay EA, Jurecic V, Goytia V, Towbin JA, Baldini A. 1997. A genetic etiology for interruption of the aortic arch type B. Am J Cardiol 80: 493-497.
11. McElhinney DB, Clark 3rd BJ, Weinberg PM, et al. 2001. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 37: 2114-2119.
12. Merscher S, Funke B, Epstein JA, et al. 2001. Tbx1 is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome. Cell 104: 619-629.
13. Rauch A, Hofbeck M, Leipold G, et al. 1998. Incidence and significance of 22q11 hemizygosity in patients with interrupted aortic arch. Am J Med Genet 78: 322-331.
14. Raymond FL, Simpson JM, Mackie CM, Sharland GK. 1997. Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects. J Med Genet 34: 679-682.
15. Van Mierop LH, Kutsche LM. 1986. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 58: 133-137.
16. Volpe P, Gentile M, Marasini M. 2002a. Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association. Prenat Diagn 22: 371-374.
17. Volpe P, Marasini M, Caruso G, Gentile M. 2002b. Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Ultrasound Obstet Gynecol 20: 327-331.
18. Waldo K, Zdanowicz M, Burch J, et al. 1999. A novel role for cardiac neural crest in heart development. J Clin Invest 103: 1499-1507.
19. Yagel S, Cohen SM, Achiron R. 2001. Examination of the fetal heart by five short-axis views: a proposed screening method for comprehensive cardiac evaluation. Ultrasound Obstet Gynecol 17: 367-369.
20. Yeager SB, Sanders SP. 1995. Echocardiographic identification of thymic tissue in neonates with congenital heart disease. Am Heart J 129: 837-839.
21. Zalel Y, Gamzu R, Mashiach S, Achiron R. 2002. The development of the fetal thymus: an in utero sonographic evaluation. Prenat Diagn 22: 114-117.