OBJECTIVE: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). METHODS: We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases). RESULTS: We identified a deleterious copy number variation (CNV) in five fetuses (10%). De novo genomic imbalances identified in this study consisted of a 6qter deletion in a fetus with brain and renal malformations, a mosaicism for a 8p tetrasomy in a fetus with agenesis of corpus callosum, growth retardation, mild facial dysmorphic features, and vertebral anomalies, a 17p13.3 deletion in a fetus with a complex brain malformation, and a partial 11p trisomy in a fetus with severe growth retardation and oligoamnios. In one case, we identified a partial 17q trisomy resulting from malsegregation of a cryptic-balanced translocation. CONCLUSIONS: This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing. Copyright (c) 2010 John Wiley & Sons, Ltd.
OBJECTIVE: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA). METHODS: We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases). RESULTS: We identified a deleterious copy number variation (CNV) in five fetuses (10%). De novo genomic imbalances identified in this study consisted of a 6qter deletion in a fetus with brain and renal malformations, a mosaicism for a 8p tetrasomy in a fetus with agenesis of corpus callosum, growth retardation, mild facial dysmorphic features, and vertebral anomalies, a 17p13.3 deletion in a fetus with a complex brain malformation, and a partial 11p trisomy in a fetus with severe growth retardation and oligoamnios. In one case, we identified a partial 17q trisomy resulting from malsegregation of a cryptic-balanced translocation. CONCLUSIONS: This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing. Copyright (c) 2010 John Wiley & Sons, Ltd.
Authors: Malgorzata I Srebniak; Marjan Boter; Gretel O Oudesluijs; Titia Cohen-Overbeek; Lutgarde Cp Govaerts; Karin Em Diderich; Renske Oegema; Maarten Fcm Knapen; Ingrid Mbh van de Laar; Marieke Joosten; Diane Van Opstal; Robert-Jan H Galjaard Journal: Mol Cytogenet Date: 2012-03-13 Impact factor: 2.009
Authors: Danielle Veenma; Niels Beurskens; Hannie Douben; Bert Eussen; Petra Noomen; Lutgarde Govaerts; Els Grijseels; Maarten Lequin; Ronald de Krijger; Dick Tibboel; Annelies de Klein; Dian Van Opstal Journal: PLoS One Date: 2010-12-21 Impact factor: 3.240
Authors: Lisa G Shaffer; Jill A Rosenfeld; Mindy P Dabell; Justine Coppinger; Anne M Bandholz; Jay W Ellison; J Britt Ravnan; Beth S Torchia; Blake C Ballif; Allan J Fisher Journal: Prenat Diagn Date: 2012-07-30 Impact factor: 3.050