Laboratory Medicine Online

Table. 4. Table 4

Abnormality detection by methodology in prenatal diagnosis

	NIPT	Karyotyping	FISH	CMA
Aneuploidy	+	+	+	+
Balanced rearrangement	-	+	+	-
CNV > 10 Mb	Not available	+	+	+
CNV < 5-10 Mb	Not available	+/-	+	+
Mosaicism	Not available	> 20%	> 5%	> 20%
Marker (unidentifiable) chromosomes	Not available	+	+	+
Target region	limited	Whole genome	limited	Whole genome

Abbreviations: CMA, chromosomal microarray; CNV, copy number variant; FISH, fluorescence in situ hybridization; NIPT, noninvasive prenatal test.