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Table 3 Clinically significant CMA findings and ultrasound details in pregnancies with polyhydramnios and normal karyotype

From: Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

Case Number

Gestational age (weeks)

Ultrasound findings

CMA results

Size

Inheritance

Pathogenicity category

Associated syndrome

Outcome

1

23+

Polyhydramnios

arr[GRCh37] 17p12(14,099,504–15,491,533) × 1

1.3 Mb

mat

Pathogenic

Hereditary Neuropathy With Liability to Pressure Palsies

Normal phenotype at 4-year-old follow-up

2

32+

Polyhydramnios, umbilical artery atresia

arr[GRCh37] 2q13(111,397,949–113,142,794) × 1

1.7 Mb

dn

Likely pathogenic

NV

Live birth with normal phenotype

3

34+

Polyhydramnios, ventricular septal defects, persistent left superior vena cava, nasal bone dysplasia

arr[GRCh37] 17p11.2(16,727,4900–20,433,723) × 1

3 Mb

dn

Pathogenic

Smith-Magenis Syndrome

TOP

4

19+

Polyhydramnios, pulmonary stenosis, strawberry like head, nuchal cystic lymphangioma

arr[GRCh37] 1p32.1p31.1(60,575,608–71,024,736) × 3

10.4 Mb

dn

Pathogenic

NV

TOP

5

26+

Polyhydramnios, bilateral ventriculomegaly, talipes

arr[GRCh37] 17p13.3p13.2(525–5,768,789) × 1

5.7 Mb

nd

Pathogenic

Miller-Dieker Syndrome

TOP

6

31+

Polyhydramnios, aberrant right subclavian artery

arr[GRCh37] 22q11.21(18,916,842–21,800,471) × 1

3.1 Mb

dn

Likely pathogenic

DiGeorge Syndrome

TOP

7

24+

Polyhydramnios, nasal bone dysplasia

arr[GRCh37] 16p12.2(21,816,542–22,710,614) × 1

994 Kb

dn

Likely pathogenic

NV

Live birth with normal phenotype

8

28+

Polyhydramnios, Hyperechogenic kidneys

arr[GRCh37] 17q12(34,822,465–36,404,555) × 1

1.58 Mb

dn

Likely pathogenic

17q12 Microdeletion Syndrome

Normal development at 3-year-old follow-up

9

25+

Twin pregnancy, polyhydramnios, right foot varusaberrant right subclavian artery

arr[GRCh37] 17p12p11.2(15,759,453–20,547,625) × 3

4.7 Mb

nd

Pathogenic

Potocki-Lupski Syndrome

ADHD, language disability at 3-year-old follow-up

10

32+

Polyhydramnios, FGR,VSD

arr[GRCh37] 15q14q21.3(35,077,111–54,347,324) hmz

19.2 Mb

mat upd

Pathogenic

Prader-Willi Syndrome

TOP

  1. dn, de novo; nd, not detected; NV, not available; TOP, termination of pregnancy; FGR, fetal growth restriction; ADHD, attention deficit hyperactivity disorder; VSD, ventricular septal defect