Skip to main content

Table 4 Forty five cases with inconsistent karyotyping and CNV-seq results

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

No.

Indications for prenatal diagnosis

Abnormal karyotypes

CNV-seq results

Fetal ultrasound

Pregnancy outcomes

1

Advanced maternal age

69,XXX

46,XX

Fetal growth restrction, tethered spinal cord, ankle joint reflexion, diaphragm expansion

Termination of pregnancy

2

Maternal serum screening ES high risk、NIPT low-risk

69,XXX

46,XX

Fetal trunk is significantly smaller than the head, left lung absent, double Outlet Right Ventricle

Termination of pregnancy

3

NIPT high-risk

47,XXX

46XX[20%]/47XXX[80%]

Normal

Gave birth to a girl

4

NIPT high-risk

45,X[18]/46,X,i(X)(p10)[34]

45,X,del(Xp11.21-p22.33)52.45mb(73%)/46,XX(27%)

Thickened nuchal folder

Continue pregnancy

5

NIPT high-risk

45, X

46,XX[11%]/45,X[89%]

Fetal growth restrction

Termination of pregnancy

6

NIPT high-risk

45,X[53]/47,XXX [5]

45,X

Ventricular septal defect

Termination of pregnancy

7

Advanced maternal age

45,X[18]/46,X,+mar[24]

45X with possible X structure abnormality

Mild bilateral renal hydrops, bilateral ventriculomegaly, slightly larger right heart

Termination of pregnancy

8

NIPT high-risk

45,X[19]/46,XY [16]

Turner mosaic

Bilateral renal pelvis separation

Termination of pregnancy

9

NIPT high-risk

45,X[35]/46,XX [9]

45,X

Normal

Termination of pregnancy

10

Maternal serum screening high risk

47,XYY [7]/46, XY[56]

Y chromosome duplication(16.85 Mb)

Normal

Gave birth to a boy

11

NIPT high-risk

45,X[22]/46,XY [8]

Yq11.221-q11.223 deletion(VUS)

Bowel echo enhancement

Termination of pregnancy

12

Maternal serum screening high risk

45,X[37]/46,XY [7]

4p15.33、Yq11.222-q11.223 deletion(VUS)

Normal

Termination of pregnancy

13

Childbearing history of gastrodialysis

45,X [10]/46,XX[42]

Likely benign variation

Left nasal bone dysplasia, right Nasal bone absent

Gave birth to a girl

14

NIPT high-risk

45X [5]/46XX

Likely benign variation

Retract chin and lower lip

Continue pregnancy

15

NIPT high-risk

45,X [8]/46,XX[92]

Likely benign variation

Normal

Termination of pregnancy

16

NIPT high-risk

45,X [4]/46,XX[51]

Likely benign variation

Normal

Continue pregnancy

17

Couples are thalassaemia carrier

45,X [10]/46,XY[28]

Normal

Normal

Termination of pregnancy

18

Advanced maternal age

47,XXY[10]46,XY[45]

Normal

Bilateral renal pelvis separation, bowel echo enhancement

Gave birth to a boy

19

NIPT high-risk

45,X[34]/47,XXX[26]

Normal

Bilateral renal pelvis separation

Termination of pregnancy

20

Couples are thalassaemia carrier

45,X [5]/46,XY[40]

Normal

The fetus is smaller 8 days than gestational week

Gave birth to a boy

21

NIPT high-risk

47,XN,+ 21[18]/46,XN[31]

47,XN,+ 21[58%]

Small humerus and femoral length, small head circumference

Termination of pregnancy

23

NIPT high-risk

47,XX,+ 21[27]/46,XX [8]

DS

Normal

Termination of pregnancy

24

NIPT high-risk

47,XX,+ 18[29] /46,XX [5](GTG)

47,XN,+ 18[78%]/46,XN[22%]

Incontinuity of lower part of cerebellar vermis, complete endocardial cushion defect

Termination of pregnancy

25

NIPT high-risk

47,XN,+ 15[4]/46,XN[51]

Trisomy 15 mosaic (50%)

Single umbilical artery

Termination of pregnancy

26

NIPT high-risk

47,XY,+ 5[15]/46,XY[47]

CNVs benign variation

FGR, ventricular septal defect, thickened right ventricular wall, Aorta straddle, enhanced echo of the aortic valve, tricuspid valve and intestinal echo

Termination of pregnancy

27

NIPT high-risk

47,XY,+ 13 [5]/46,XY [63]

CNVs-

Normal

Gave birth to a healthy boy

28

Advanced maternal age

47,XY,+ 18 [5]/46,XY [90]

CNVs(−)

Polyhydramnios

Gave birth to a healthy boy

29

NIPT high-risk

47,XN,+mar

12p12.1-p13.33 and 21q11.2-q22.11duplication(pathogenic)

Normal

Termination of pregnancy

30

Maternal serum screening high risk

mos46,X,+mar[23]/45,X [14]

Xp11.21-p22.33 deletion 56.8mb and Xq21.31-q28 deletion 64.6mb(pathogenic)

Short humerus and femoral length, Ventricular Septal Defect

Termination of pregnancy

31

Advanced maternal age

47,XN,+mar

2q11.1-q11.2 duplication(VUS)

Bilateral choroid plexus cysts, enhanced bowel echo

Lost to follow-up

32

Advanced maternal age

47,XX,+mar

5q21.2-q21.3 duplication, VUS

Normal

Continue pregnancy

33

Amniotic fluid 46,XN[38] /47,XN,+mar[22]

Cord blood 47,XX,+mar [17]/46,XX [17]

dup(8q24.22)Likely benign variation

Normal

Continue pregnancy

34

NIPT: abnormal chromosome 3 number

47,XX,+mar

Likely benign variation

Short nasal bone

Gave birth to a healthy girl

35

Fetal acromphalus

47,XY,+mar [11]/46,XY[31]

Likely benign variation

Acromphalus, edema

Termination of pregnancy

36

Thalassaemia?

47,XX,+mar [13]/46,XX[62]

Likely benign variation

Normal

Gave birth to a healthy girl

37

Advanced maternal age

47,XY,+mar [7]/46,XY[33]

Normal

Normal

Gave birth to a healthy boy

38

NIPT high-risk

46,XN,t(1;13)(q25;?q22)de novo

13q14.3-q21.33 deletion 23.1mb(pathogenic)

Normal

Termination of pregnancy

39

Childbearing history of deaf children

46,XY,dup(1)(q21.2)?

1q521.2 duplication(VUS)

Normal

Gave birth to a healthy boy

40

NIPT high-risk

46,X,del(Y)(q11)?

Xp22.31-p22.33 duplication VUS

Fetal right ventricular wall has strong echo and was thickened

Lost to follow-up

41

NIPT high-risk

46,XN,inv.(9)(p12q13)[79]

DS mosaic[20%]

Normal

Lost to follow-up

42

Maternal serum screening high risk, Advanced maternal age

45,X,der(13)t(Y;13)(q11.2?;p10?)[26]/45,X [5]

X,del(Y)[75%]/XO[25%]

FGR?

Termination of pregnancy

43

Maternal serum screening high risk

46,XY[45]

XY[60%]/XYY[40%]

Right aortic arch

Continue pregnancy

44

NIPT high-risk

46,XX[40]

XXY

Gene detection:SRY existed, AZF all missing

Male genitalia

Gave birth to a healthy boy, 2 years-old

45

NIPT high-risk

46,XY[83]

47,XN,+ 2[23%]/46,XN[77%]

Normal

Termination of pregnancy