Table 1 Identified diagnoses by pES in our cohort of fetal AbnCC.
Patient | Type of AbnCC | Associated malformations | Fetal sex | pES result | Diagnoses | Pregnancy outcome |
|---|---|---|---|---|---|---|
3 | Partial Ag, isolated | None | M | PPP2R1A NM_014225.5: c.544C>T, p.(Arg182Trp) de novo | Mental retardation, autosomal dominant 36 (MIM 616362) | TOP |
6 | Partial Ag, non-isolated | Cerebellar hypoplasia, growth restriction, arthrogryposis | M | BRAT1 NM_001350626.1c.2471dup, p.(Gly825Argfs*6) hmz | Rigidity and multifocal seizure syndrome (MIM 614498) | Neonatal demise |
13 | Partial Ag, non-isolated | Brain stem hypoplasia | M | 13q34 duplication (7.9 Mb) 6q27 deletion (1 Mb) de novo | 6qter deletion syndrome | Livebirth |
20 | Complete Ag, isolated | None | M | KANSL1 NM_001193466.1c.611dup, p.(Met205Tyrfs*9) de novo | Koolen de Vries syndrome (MIM 610443) | Livebirth |
28 | Complete Ag, non-isolated | Ventricular septal defect | M | 2q22.2q22.3 deletion (ZEB2, 3.65 Mb) de novo | Mowat–Wilson syndrome (MIM 235730) | TOP |
30 | Short CC, non-isolated | Vermian hypoplasia | F | TUBA1A NM_001270399.1c.832G>C, p.(Ala278Pro) de novo | Lissencephaly 3 (MIM 611603) | TOP |
31 | Partial Ag, isolated | Pyelic dilatation | F | 17q21.31 deletion (KANSL1, 503 kb) de novo | Koolen de Vries syndrome (MIM 610443) | TOP |
33 | Short CC, isolated | None | F | PTPN11 NM_002834.3:c.853T>C, p.(Phe285Leu) de novo | Noonan syndrome (MIM 163950) | Livebirth (before result) |
42 | Short CC, non-isolated | Club feet | F | KIF1A NM_001244008.1c.296C>T, p.(Thr99Met) de novo | Mental retardation, autosomal dominant 9 (MIM 601255) | TOP |
44 | Complete Ag, non-isolated | Blake’s pouch cyst, Turner syndrome: mos 46,X, psu idic(X)(p11.2)[19]/45,X[6] | F | SHROOM4 NM_020717.3c.2050C>T, p.(Arg684*) hemizygous | Stocco dos Santos X-linked mental retardation syndrome (MIM 300579) | TOP |
46 | Short CC, non-isolated | Metopic synostosis | F | ASXL3 NM_030632.2c.3106C>T, p.(Arg1036*) de novo | Bainbridge–Ropers syndrome (MIM 615485) | TOP |
53 | Complete Ag, isolated | None | M | ARID1B NM_001346813.1c.4129C>T, p.(Arg1377*) de novo | Coffin–Siris syndrome (MIM 135900) | TOP |
60 | Short CC, non-isolated | Cerebellar dysgenesis | M | BRPF1 c.2401G>A, p.(Glu801Lys) de novo RTTN c.2055+1G>A, p.?, mat c.350C>T, p.(Ser117Leu), pat | Intellectual developmental disorder with dysmorphic facies and ptosis (MIM 617333); microcephaly, short stature, and polymicrogyria with seizures (MIM 614833) | TOP |
62 | Partial Ag, isolated | None | M | ZBTB20 c.1739G>A, p.(Cys580Tyr) de novo | Primrose syndrome (MIM 259050) | TOP |
64 | Complete Ag, non-isolated | Ventricular septal defect | F | ZEB2 c.2657_2676dup, p.(Pro893*) de novo | Mowat–Wilson syndrome (MIM 235730) | TOP |
