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Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result |
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| Authors: | Laia Rodriguez-Revenga Irene Madrigal Antoni Borrell Josep M. Martinez Joan Sabria Lourdes Martin Wladimiro Jimenez Aurea Mira Celia Badenas Montserrat Milà |
| Affiliation: | 1. Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain;2. CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center, Universitat de Barcelona, Barcelona, Spain;3. BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center, Universitat de Barcelona, Barcelona, Spain;4. Gynecology and Obstetrics Service, Hospital Joan XXIII, Tarragona, Spain;5. Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain Department of Biomedicine-Biochemistry Unit, School of Medicine University of Barcelona, Barcelona, Spain;6. Biomedical Diagnostic Center, Hospital Clinic of Barcelona, Barcelona, Spain;7. Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain |
| Abstract: | Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those pregnancies undergoing invasive prenatal diagnosis with a normal fetal ultrasound, conventional karyotyping is still performed. The aims of this study were to establish the diagnostic yield of CMA in prenatal diagnosis, and to provide new data that might contribute to reconsider current practices. We reviewed 2905 prenatal samples with a normal rapid aneuploidy detection test referred for evaluation by CMA testing. Our study revealed pathogenic and reported susceptibility copy number variants associated with syndromic disorders in 4.8% (n = 138/2905) of cases, being 2.8% (n = 81/2905) the estimated added diagnostic value of CMA over karyotyping. Clinically significant CMA abnormality was detected in 5.4% (107/1975) of the fetuses with ultrasound anomalies and in 1.4% (5/345) of those considered as low-risk pregnancies. Our series shows that in prenatal samples, CMA increases 2-fold the diagnostic yield achieved by conventional karyotyping. |
| Keywords: | chromosomal microarray copy number variant diagnostic yield low-risk pregnancy prenatal |