Table 4 Characteristics of clinically significant CNVs identified in 16 fetuses with ultrasound anomalies of the kidney

1

RCAD syndrome

17q12(34477479_36397323) × 1

del

1.92

Pathogenic

MCDK (R)

–

–

46, XX

2

RCAD syndrome

17q12(34822465_36283612) × 1 mat

del

1.46

Pathogenic

Hydronephrosis (L) + MCDK (R)

Dilated ureter (L)

–

46, XY

3

RCAD syndrome

17q12(34477479_36410559) × 1 dn

del

1.93

Pathogenic

Bilateral hydronephrosis

–

–

46, XY

4

RCAD syndrome

17q12(34822465_36404138) × 1 dn

del

1.58

Pathogenic

Bilateral MCDK

–

–

46, XY

5

22q11 deletion syndrome

22q11.21(18916842_21800471) × 1 dn

del

2.88

Pathogenic

Ectopic kidney (L)

Ureterocele

–

46, XX

6

22q11 deletion syndrome

22q11.21(18916842_21798907) × 1 dn

del

2.88

Pathogenic

Bilateral renal dysplasia

–

Truncus arteriosus, right aortic arch, absent ductus arteriosus, short penis, thickened nuchal fold,

46, XY

7

Wolf-Hirschhorn syndrome/8p23.1-pter duplication

4p16.3(68345_3950060) × 1, 8p23.3p23.1(158048_7044046) × 3

del/dup

3.88/6.89

Pathogenic/ pathogenic

Bilateral renal dysplasia

–

FGR, persistent left superior vena cava, absent nasal bone

46, XX, der(4)t(4;8)

(p16.3;p23.2)

8

Rubinstein-Taybi syndrome

16p13.3(3827552_3935836) × 1

del

0.11

Pathogenic

Ectopic kidney (R)

–

–

46, XX

9

20q13.33-qter duplication/Phelan-Mcdermid syndrome

20q13.33(60862389_62915555) × 3, 22q13.31q13.33(44465713_51197838) × 1

dup/del

2.05/6.70

Pathogenic/ pathogenic

MCDK (L)

–

–

46, XY

10

Sotos syndrome

5q35.2q35.3(175570677_177469711) × 1 dn

del

1.90

Pathogenic

Ectopic kidney (R)

–

FGR, bilateral mild ventriculomegaly

46, XX

11

Williams-Beuren syndrome

7q11.23(72701018_74141746) × 1

del

1.44

Pathogenic

Ectopic kidney (R)

–

FGR

46, XX

12

Bardet-Biedl syndrome 3/ Charcot-Marie-Tooth syndrome type 1A (CMT1A)

3q11.2(97414335_97520233) × 3, 17p12(14108911_15473312) × 3

dup/dup

0.11/1.36

Likely pathogenic /pathogenic

Bilateral renal dysplasia

–

FGR, oligohydramnios, absent end-diastolic velocity in umbilical artery

Unknown

13

Proximal 6q deletion

6q14.2q15(84775390_89494504) × 1 dn

del

4.72

Pathogenic

Hydronephrosis (R)

–

Persistent left superior vena cava, mild ventriculomegaly (R), cavum velum interpositum cyst

46, XX

14

16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)

16p13.11(15936927_16146987) × 3

dup

0.21

Likely pathogenic

Hydronephrosis (R)

–

Echogenic intracardiac foci

46, XY

15

15q11.2 recurrent deletion (BP1-BP2)

15q11.2(22770421_23282799) × 1

del

0.51

Likely pathogenic

Duplex kidney (L)

Dilated ureter (L)

Echogenic intracardiac foci

46, XX, 22pss

16

Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Xp11.4(41749904_41998547) × 1

Loss

0.25

Likely pathogenic

Bilateral renal dysplasia

–

FGR, micrognathia, persistent left superior vena cava, posterior fossa cyst, cerebellar hypoplasia, Blake’s pouch cysts, thickened subcutaneous soft tissue

46, XX