J Genet Med.  2018 Dec;15(2):49-54. 10.5734/JGM.2018.15.2.49.

Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

• Shim SH
• Cha DH

• KMID: 2435942
• DOI: http://doi.org/10.5734/JGM.2018.15.2.49

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.

Keyword

Nuchal translucency measurement; Microarray analysis; Comparative genomic hybridization; Prenatal diagnosis

MeSH Terms

Aneuploidy
Chromosome Aberrations
Comparative Genomic Hybridization
Fetus*
Karyotype
Karyotyping
Microarray Analysis*
Nuchal Translucency Measurement*
Prenatal Diagnosis