1. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications
- Author
-
Brynn Levy, Ronald J. Wapner, and Karen Wou
- Subjects
0301 basic medicine ,Microarray ,Genetic counseling ,Clinical Biochemistry ,Prenatal diagnosis ,Genetic Counseling ,030105 genetics & heredity ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Prenatal Diagnosis ,Gene duplication ,Chromosome Duplication ,Medicine ,Humans ,Clinical significance ,Copy-number variation ,Oligonucleotide Array Sequence Analysis ,Genetics ,030219 obstetrics & reproductive medicine ,Microarray analysis techniques ,business.industry ,Biochemistry (medical) ,Cell-free fetal DNA ,Karyotyping ,Female ,Chromosome Deletion ,business - Abstract
Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes.
- Published
- 2016