The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results

Table 4

The results of prenatal diagnosis in the women who selected both karyotype analysis and CMA.

Group	Number	Chromosome abnormalities	CNVs
K+C+	96	96	3
K-C+	18	1^a	17^b
K+C-	7	7^c	0
K-C-	179	0	0
Total	300	104	21

K+C+: both results of karyotype analysis and CMA were positive; K-C+: the results of CMA were positive, while karyotype analysis results were negative; K+C-: the results were karyotype analysis positive, while CMA results were negative; K-C-: both results of karyotype analysis and CMA were negative. ^aOne case was chr8 uniparental disomy (UPD). ^bTwo cases were pathogenic or likely pathogenic CNVs. Three cases were likely benign CNVs. Others were VUS. ^cTwo cases were low-ratio chromosome mosaics. One case was 46,XX,inv(7)(q33q35). Four cases were chromosome polymorphism.