Skip to main content

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