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 |