OBJECTIVES: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion (22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We assessed the prevalence of 22qdel in a population of fetuses with conotruncal cardiac defects. STUDY DESIGN: Consecutive fetuses (n = 261) with a CTM and a normal karyotype were included in the study. All fetuses were screened for 22qdel by means of fluorescent in situ hybridization. RESULTS: A 22qdel was found in 54 fetuses (20.7%). The proportion of 22qdel for each CTM was: tetralogy of Fallot (14/100), pulmonary atresia with ventricular septal defect (11/61), tetralogy of Fallot with absent pulmonary valves (6/16), interrupted aortic arch (10/22), truncus arteriosus (9/29), and complex transpositions of the great arteries (4/33). Additional vascular anomalies were present in 75%. Typical abnormal facial appearance at birth or at autopsy was observed in 80%, and thymus hypoplasia, in 76%. The pregnancy was terminated in 41 of 54 cases, including an intrauterine death in one case. The 22qdel was inherited in 7.7%. CONCLUSION: Prevalence of the 22qdel is high in fetuses with CTMs. The risk of mental retardation associated with the respective risk of cardiac surgery for each type of CTM may strongly influence prenatal counseling.
OBJECTIVES: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion (22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We assessed the prevalence of 22qdel in a population of fetuses with conotruncal cardiac defects. STUDY DESIGN: Consecutive fetuses (n = 261) with a CTM and a normal karyotype were included in the study. All fetuses were screened for 22qdel by means of fluorescent in situ hybridization. RESULTS: A 22qdel was found in 54 fetuses (20.7%). The proportion of 22qdel for each CTM was: tetralogy of Fallot (14/100), pulmonary atresia with ventricular septal defect (11/61), tetralogy of Fallot with absent pulmonary valves (6/16), interrupted aortic arch (10/22), truncus arteriosus (9/29), and complex transpositions of the great arteries (4/33). Additional vascular anomalies were present in 75%. Typical abnormal facial appearance at birth or at autopsy was observed in 80%, and thymus hypoplasia, in 76%. The pregnancy was terminated in 41 of 54 cases, including an intrauterine death in one case. The 22qdel was inherited in 7.7%. CONCLUSION: Prevalence of the 22qdel is high in fetuses with CTMs. The risk of mental retardation associated with the respective risk of cardiac surgery for each type of CTM may strongly influence prenatal counseling.
Authors: Erica Schindewolf; Nahla Khalek; Mark P Johnson; Juliana Gebb; Beverly Coleman; Terrence Blaine Crowley; Elaine H Zackai; Donna M McDonald-McGinn; Julie S Moldenhauer Journal: Am J Med Genet A Date: 2018-07-28 Impact factor: 2.802
Authors: Fernanda Teixeira da Silva Bellucco; Sintia Iole Nogueira Belangero; Leila Montenegro Silveira Farah; Maria Virgínia Lima Machado; Adriano Pastor Cruz; Lílian Maria Lopes; Marco Antonio Borges Lopes; Marcelo Zugaib; Mirlene Cecília Cernach; Maria Isabel Melaragno Journal: Pediatr Cardiol Date: 2010-09-17 Impact factor: 1.655
Authors: Malgorzata I Srebniak; Karin Em Diderich; Marieke Joosten; Lutgarde Cp Govaerts; Jeroen Knijnenburg; Femke At de Vries; Marjan Boter; Debora Lont; Maarten Fcm Knapen; Merel C de Wit; Attie Tji Go; Robert-Jan H Galjaard; Diane Van Opstal Journal: Eur J Hum Genet Date: 2015-09-02 Impact factor: 4.246
Authors: A Kyburz; U Bauersfeld; A Schinzel; M Riegel; M Hug; M Tomaske; E R Valsangiacomo Büchel Journal: Pediatr Cardiol Date: 2007-09-29 Impact factor: 1.655
Authors: P Volpe; D Paladini; M Marasini; A L Buonadonna; M G Russo; G Caruso; A Marzullo; M Vassallo; P Martinelli; M Gentile Journal: Heart Date: 2003-12 Impact factor: 5.994