Research Article

Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm

Table 2

Distribution of chromosomal abnormalities detected by quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) of 499 amniotic fluid samples from pregnancies with a nuchal translucency (NT) ≥2.5 mm.

NT (mm)N (%)Aneuploidies and triploidy detected by QF-PCRPathogenicCNVsVOUS
Trisomy 21Trisomy 18Trisomy 13Monosomy XTrisomy 21 mosaicismbMonosomy X mosaicismbTriploidyb≥10 Mb<10 Mb

2.5 mm ≤ NT < 3.0 mm134 (26.9)2110120131
3.0 mm ≤ NT < 3.5 mm146 (29.3)6101000020
3.5 mm ≤ NT < 4.5 mm140 (28.0)14603000070
4.5 mm ≤ NT < 5.5 mm32 (6.4)3200000200
5.5 mm ≤ NT < 6.5 mm13 (2.6)4001001110
6.5 mma ≤ NT34 (6.8)4615000220

aNineteen cases diagnosed with cystic hygroma were classified in this group. bOne case of trisomy 21 mosaicism, two cases of monosomy X mosaicism, and one case of triploidy were further confirmed by fluorescence in situ hybridization (FISH).