Table 2 Whole chromosome aneuploidies of the 782 fetuses with USMs.

From: Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing

Sample Number

USMs

Gestational Age (weeks)

Maternal Age (years)

Whole Chromosome Aneuploidies

Confirmation Test

Follow-up Outcome

P16

single umbilical artery

22

28

trisomy 18

QF-PCR

termination of pregnancy

P21

choroid plexus cyst

20.3

27

trisomy 18

QF-PCR

termination of pregnancy

P12

thickened nuchal fold

20.6

42

trisomy 21

QF-PCR

termination of pregnancy

P14

thickened nuchal fold

19.6

29

trisomy 21

QF-PCR

termination of pregnancy

P15

absence of nasal bone

26

29

trisomy 21

QF-PCR

termination of pregnancy

P23

echogenic focus in the heart

27.2

29

trisomy 21

QF-PCR

termination of pregnancy

P22

echogenic focus in the heart, tricuspid regurgitation

24

27

47, XXY

QF-PCR

normal development at

3 months

P19

choroid plexus cyst

32.5

31

47, XYY

QF-PCR

normal development at

6 months

P13

thickened nuchal fold

20.2

35

48, XXXX

FISH

termination of pregnancy