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

Table 4

Comparison of sample size, analytical methods, and pathogenic findings in the present study with those in the published series.

Study	Number of patients	Cutoff of NT (mm)	Prior testing	CMA platform	Pathogenic CNVs, n(%)
Lund et al. [17]	94	3.5	QF-PCR	CGH (180K, Agilent)	12 (12.8)
Egloff et al. [16]	720	3.5	MLPA, BoBs, QF-PCR	CGH (60K, 180K, PrecytoNEM®, Agilent)	16 (2.7)
Pan et al. [21]	122	3.5	QF-PCR	SNP (250K, Affymetrix)	7 (5.7)
Scott et al. [22]	41	3.5	Karyotyping	CGH (60K, Agilent)	1 (2.4)
Schou et al. [15]	100	3.5	Karyotyping	CGH (BAC 3 Mb, targeted)	0 (0)
Huang et al. [23]	215	3.5	Karyotyping	CGH (44K, targeted)	0 (0)
Present study	499	2.5	QF-PCR	SNP (750K, Affymetrix)	21 (4.8)

BAC, bacterial artificial chromosome; BoBs, BACs-on-Beads; CGH, comparative genomic hybridization; CMA, chromosomal microarray analysis; CNVs, copy number variants; MLPA, multiplex ligation-dependent probe amplification; NT, nuchal translucency; QF-PCR, quantitative fluorescent polymerase chain reaction; SNP, single-nucleotide polymorphism.