Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency.
- Author:
So Hyun SHIM
1
;
Dong Hyun CHA
Author Information
- Publication Type:Review
- Keywords: Nuchal translucency measurement; Microarray analysis; Comparative genomic hybridization; Prenatal diagnosis
- MeSH: Aneuploidy; Chromosome Aberrations; Comparative Genomic Hybridization; Fetus*; Karyotype; Karyotyping; Microarray Analysis*; Nuchal Translucency Measurement*; Prenatal Diagnosis
- From:Journal of Genetic Medicine 2018;15(2):49-54
- CountryRepublic of Korea
- Language:English
- Abstract: Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal translucency. With the development of genetic diagnostic techniques, however, it has been reported that subtle variations not detectable by conventional karyotyping might occur in cases of pathologic clinical syndrome in euploid fetuses. One of the newer, high-resolution genetic methods in the prenatal setting is chromosomal microarray. The possible association between nuchal translucency thickness with normal karyotype and submicroscopic chromosomal abnormalities detectable by microarray has been studied. How and when to apply microarray in clinical practice, however, is still debated. This article reviews the current studies on the clinical application of microarray in cases of increased nuchal translucency with normal karyotype for prenatal diagnosis.
