TABLE 5.

Selection and results of prenatal diagnosis methods.

Prenatal diagnosis method	Total	Euploidies	Balanced translocation	Aneuploidies					Positive rate
				Common aneuploidies (T21/T18/T13)	Sex chromosome aneuploidies	Segmental aneuploidies
						P	LP	VUS
Karyotyping	63	60	1		2				4.76%
CMA/CNV-seq	72	61			1a	4	2	4	15.28%

CMA, chromosomal microarray analysis; CNV-seq, copy number variation sequencing; P, pathogenic; LP, likely pathogenic; VUS, variant of uncertain significance. ^aThe CNV-seq and QF-PCR (quantitative fluorescence polymerase chain reaction) results of this case were inconsistent. CNV-seq did not indicate abnormalities, while QF-PCR indicated abnormalities in the sex chromosome sites. Due to the doubtful results, additional FISH (fluorescence in situ hybridization) analysis was added. FISH results suggested mosaic XX/XY.