Table 1 Clinical prenatal diagnosis informations and pregnancy outcomes of nine cases

1

a. Was referred to our hospital due to karyotype mos 45,X[45]/46,X,+mar[8] in AF cells.

AF

mos 45,X[23]/46,X,idic(Y)(p11.3)[6]

arr(1-22)×2, (X)×1, (Y)×0-1(copies 0.75)

nuc ish (DXZl×1,DYZ3×0)[39/100]/(DXZl,DYZ3)×1[42/100]/(DXZl×1,DYZ3×2)[19/100]

X/XY mosaicism, SRY(+), AZF no deletion

N

TOP

CB

mos 46,X,idic(Y)(p11.3)[108]/45,X[103]

nuc ish (DXZl×1,DYZ3×0)[53/100]/(DXZl,DYZ3)×1[40/100]/(DXZl×1,DYZ3×2)[7/100]

*2

a. The twins' imbalanced development.

b. Twin 2 was found fetal cleft lip, cleft palate, ventricular septal defect and fetal bilateral radius hypoplasia or absence.

AF

mos 45,X[27]/46,X,idic(Y)(q11.22)[14]

arr[hg18]Yq11.221q11.23(17,073,540-27,176,992)×0

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

XYY or structurally abnormal Y chromosome, SRY(+)

N

TOP: Male, weight 1.1 kg, body length 37 cm, head circumference 26 cm

CB

mos 46,X,idic(Y)(q11.22)[95]/45,X[5]

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

*3

CB

mos 46,X,idic(Y)(q11.22)[90]/45,X[10]

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

Fetal cleft lip, cleft palate, ventricular septal defect and fetal bilateral radius hypoplasia or absence

TOP: Male, weight 0.6kg, body length 31cm, head circumference 21cm, cleft lip and palate, abnormal postures of hands

4

a. Fetal left ventricular bright spot.

b. Excess sex chromosomes by NIPT.

CB

mos 46,X,idic(Y)(q11.22)[97]/45,X[3]

arr[hg19] (X)×1, Yp11.31q11.221(2,650,424-15,715,099)x2

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

XYY or structurally abnormal Y chromosome, SRY(+), AZFb+c+d deletion

Fetal left ventricular bright spot

Birth: A 3.5 kg baby boy, normal development, natural birth

5

a. Was referred to our hospital due to karyotype mos 45, X/46, XY in AF cells.

b. AMA.

AF

mos 45,X[19]/46,X,idic(Y)(q11.22)[3]/46,X,del(Y)(q11.22)[2]/46,XY[1]

arr[hg19] (X)×1, Yp11.31q11.222(2,650,424-20,609,790)x1-2, Yq11.222q11.23(21,035,823-28,799,654)x0

nuc ish (DXZl×1,DYZ3×0)[36/100]/(DXZl,DYZ3)×1[34/100]/(DXZl×1,DYZ3×2)[14/100]/(DXZl×1,DYZ3×4)[16/100]

XYY/XY mosaicism, SRY(+), AZFb+c+d deletion

N

Birth: A 3.25 kg baby boy, normal development, cesarean section

CB

mos 46,X,idic(Y)(q11.22)[34] /45,X[12]/47,X,idic(Y)(q11.22)x2[5]/46,X,del(Y)(q11.22)[5]/46,XY[44]

nuc ish (DXZl×1,DYZ3×0)[25/100]/(DXZl,DYZ3)×1[31/100]/(DXZl×1,DYZ3×2)[34/100]/(DXZl×1,DYZ3×4)[10/100]

XYY/XY mosaicism

6

a. Increased fetal NT thickness (3.6 mm).

AF

mos 45,X[14]/46,X,idic(Y)(q11.22)[3]

arr[hg19] Yq11.221q11.23(19,571,466-28,799,654)x0

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

XY, SRY(+), AZFb+c+d deletion

Increased fetal NT thickness (3.6mm)

TOP

CB

mos 46,X,idic(Y)(q11.22)[76]/45,X[21]/47,X,idic(Y)(q11.22)×2[3]

arr[hg19] Yp11.31q11.222(2,650,424-19,955,778)x4, Yq11.221q11.23(19,571,466-28,799,654)x0

nuc ish (DXZl×1,DYZ3×0)/(DXZl×1,DYZ3×2)

7

a. A critical risk of trisomy 21 by early Down's screening.

b. Low number of sex chromosomes by NIPT.

AF

mos 45,X[35]/46,X,del(Y)(q11.22)[5]/46,X,idic(Y)(q11.22)[3]

arr[hg19] Yq11.221q11.23(19,747,270-28,799,654)x0

nuc ish (DXZl×1,DYZ3×0)/(DXZl,DYZ3)×1/(DXZl×1,DYZ3×2)

XY, SRY(+), AZFb+c+d deletion

N

Birth: A 2.9 kg baby boy, 

normal development, 

cesarean section

8

a. Increased fetal NT thickness (3.0 mm).

b. A high risk of trisomy 21 (1/140) by Down's screening.

c. Sex chromosome abnormality by NIPT.

AF

46,X,i(Y)(p10)

arr[hg18] Yp11.31p11.2(2,716,461-10,379,571)×2,

Yq11.21q11.23(12,571,053-27,176,992)×0

nuc ish (DXZl,DYZ3)×1

XYY or structurally abnormal Y chromosome, SRY(+), AZFa+b+c+d deletion,

Increased fetal NT thickness(3.0mm)

Birth: A 3.125 kg baby boy, 

normal development, 

natural birth

9

a. Double renal pelvis images of left kidney and permanent left superior vena cava.

AF

mos 45,X[46]/46,X,i(Y)(p10)[9]/46,X,del(Y)(q11)[5]/46,XY[5]

arr[hg19] Yq11.223q11.23(24,073,794-28,799,654)x0

nuc ish (DXZl×1,DYZ3×0)/(DXZl,DYZ3)×1

XY, SRY(+), AZFc+d deletion

Fetal double renal pelvis of left kidney and permanent left superior vena cava

TOP