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Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
J Genet Med 2018;15:49-54
Published online December 31, 2018;
© 2018 Korean Society of Medical Genetics and Genomics.

So Hyun Shim and Dong Hyun Cha*

Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea
Dong Hyun Cha, M.D., Ph.D.
Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, 566 Nonhyeon-ro, Gangnam-gu, Seoul 06135, Korea.
Tel: +82-2-3468-3132, Fax: +82-2-3468-2616, E-mail:
Received June 2, 2018; Revised September 11, 2018; Accepted September 12, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Nuchal translucency measurement, Microarray analysis, Comparative genomic hybridization, Prenatal diagnosis

December 2018, 15 (2)
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