title: Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.
abstract: The aim of this review is to provide the current state of knowledge about the usefulness of modern genetic technologies in uncovering the causality of isolated and multiple congenital anomalies. Array comparative genomic hybridization and next-generation sequencing have revolutionized the clinical approach to patients with these phenotypes. Both technologies enable early diagnosis, especially in clinically challenging newborn populations, and help to uncover genetic defects associated with various phenotypes. The application of both complementary methods could assist in identifying many variants that may simultaneously be involved in the development of a number of isolated or multiple congenital anomalies. Both technologies carry serious variant misinterpretation risks as well. Therefore, the methods of variant classification and accessible variant databases are mentioned. A useful strategy of clinical genetic testing with the application of both methodologies is presented. Finally, future directions and challenges are briefly commented on in this review.
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, Pawińskiego 3c, 02-106, Warsaw, Poland. krzysztof.szczaluba@gmail.com.
authors.forename: Krzysztof
authors.identifier: http://orcid.org/0000-0001-8803-646X
authors.initials: K
authors.lastname: Szczałuba
authors.affiliation: Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Żwirki i Wigury 63A, 02-091, Warsaw, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Demkow
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
keywords: Array comparative genomic hybridization; Congenital anomalies; Next-generation sequencing; Variant