Skip to main content

Table 1 Summary of Prenatal Clinical Features and Abonormalities Detected by Karyotyping, MPLA and aCGH*

From: Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Case no. [sample]

Clinical indication

Karyotype

MLPA (Region-Specific Assay, rsa)

aCGH findings (hg18)

Parental study

Follow-up

1 [AF]

aUS

46,XY,der(7)t(7;8) (q33;q22.3)pat

rsa 8q24.3(P036)×3,7q36.3(P036)×1

arr 8q22.3q24.3(105,474,143-146,175,291)x3, 7q33q36.3(134,972,470-158,811,468) x1

46,XY,t(7;8)(q33;q22.3)

Terminated

2 [AF]

aUS

46,XX,del(11)(q23.3)dn

rsa 11q25(P036)×1

arr 11q24.1q25(121,377,483-134,439,406)x1

Normal

Terminated

3 [AF]

aUS

46,XY,del(7)( q11.23q21.3)dn

Normal

arr 7q11.23q21.3(76,539,754-96,510,594)x1

Normal

Terminated

4 [AF]

aUS

46,XX,dup(3)(q21.1q25.1)

Normal

arr 3q21.1q25.1(124,410,610-153,319,948)x3

Normal

Terminated

5 [AF]

MLPA

46,XX

rsa 5p15(P245)×1

arr 5p15.33(711,361-1,411,206)x1

Normal

Term delivery

6 [AF]

aMSS

46,XY,del(2)(q37)dn

rsa 2q37.3(P036)×1

arr 2q37.2(234,210,736-235,957,912)x3, 2q37.3(236,012,851-242,677,269)x1

Normal

Terminated

7 [CVS]

hSAB

46,XY,der(11)t(8;11) (q24.1;q23.3)pat

rsa 8q24.3(P036)×3,11q25(P036)×1

arr 8q24.13q24.3(125,657,117-146,265,147)x3, 11q23.3q25(116,350,093-134,432,412)x1

46,XY, t(8;11)(q24.1;q23.3)

Terminated

8 [CVS]

hSAB

46,XY,der(11)t(10;11) (q26.1;q24.1)pat

rsa 10q26.3(P036)×3,11q25(P036)×1

arr 10q26.13q26.3(126,217,300-135,284,309)x3, 11q24.1q25(122,322,510-134,432,465)x1

46,XY,t(10,11)(q24.1;q26.1)

Terminated

9 [CVS]

hSAB

N/A

rsa X(P095)x2,Y(P095)x1, 21(P095)x3,22p13(P036)×3, 22q13.3(P036)×3

arr(X)x2,(Y)x1,(21,22)x3

Normal

SAB

10 [CVS]

hSAB

N/A

rsa X(P095)x2,Y(P095)x1, 10p15(P036)×3,10q26.3(P036)×3

arr(X)x2,(Y)x1,(10)x3

Normal

SAB

11 [CVS]

hSAB

N/A

rsa 21(P095)x3,8p23.3(P036)×3, 8q24.3(P036)×3

arr(8,21)x3

Normal

SAB

12 [CVS]

hSAB

N/A

rsa 2p25.3(P036)×3,2q37.3(P036)×3

arr(2)x3

Normal

SAB

13 [CVS]

hSAB

N/A

rsa 2p25.3(P036)×3,2q37.3(P036)×3

arr(2)x3

Normal

SAB

14 [CVS]

hSAB

N/A

rsa 21(P095)x3

arr(21)x3

Normal

SAB

  1. *CV, chorionic villus; AF, amniotic fluid; aMSS, abonormal maternal serum screen; aUS, abnormal ultrasound; hSAB, history of spontaneous abortions; N/A, not applied.