Table 1.
Clinical prenatal diagnosis informations and pregnancy outcomes of nine cases
| Cases | Indication | Tissue | Karyotype | CMA | FISH | QF-PCR | Ultrasound findings | Clinical outcome |
|---|---|---|---|---|---|---|---|---|
| 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 |
AF, amniotic fluid; CB, cord blood; N, normal; TOP, termination of pregnancy; NIPT, non-invasive prenatal test; AMA, advanced maternal age; NT, Nuchal translucency.
*Fetus 2 and fetus 3 were monochorionic-diamniotic twins