Table 1 Clinical data, morphological, cytogenetic and molecular findings
Features | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 |
|---|---|---|---|---|---|---|---|---|
Gravida/para | II/0 | IV/I | II/I | II/0 | I/0 | ND | III/II | I/0 |
Gest. weeks/outcome | 3rd trimester (PROM) | liveborn (S) | 3rd trimester (CS) | 3rd trimester (TP) | 2nd trimester (IUFD) | 2nd trimester (TP) | 2nd trimester (TP) | 2nd trimester (TP) |
Weight | 2136 g | 3000 g | 1560 g | 1020 g | 21.8 g | 350 g | 362 g | 630 g |
Length (CHL) | 49.3 cm | 50 cm | 41 cm | 39 cm | 11.3 cm | 22.5 cm | 24.3 cm | 29.8 cm |
Prenatal US | normal | normal | Possible oesophageal atresia, no TOF | VACTERL association | omphalocele sympodia | CCAM | CHAOS | CHAOS and defect of left hand |
Polyhydramnios | + | − | + | − | − | Oligohydr. | − | − |
Hydrops | − | − | − | − | − | + | + | + |
Tracheal malformation | TAG + BOF | TAG + BOF | TAG + BOFs | TAG +BOF | TAG + BOF | TAT cranial segment | TAT caudal segment | TAT caudal segment |
Pulmonary hyperplasia, lung weight in grams (times the norm for GA) | − 32.5 (0.96) | − n.d | − 27.0 (0.89) | − 21.1 (0.83) | − 0.72 (0.2) | + 17.9 (2.5) | + 41.6 (5.8) | + 58.0 (5.5) |
Lung lobes (right/left) | 2/2 | 3/3 | 2/2 | 2/2 | 2/2 | 3/2 | 3/2 | 3/2 |
Disease entity/associated malformations | isolated TAG complex | TAG complex with right descend. aorta | VACTERL including AA, cardiac VSD, TAG, OF and right RLRD | VACTERL incl. SVD, ARA, card.-vasc. PLSVC, ARSA, TAG, OF, R(A)D, and right RLRD | VACTERL variant incl. SVD, ARA, cardiac AVSD, TAG, OF, RA, right RLRD, AG, omphalocele and sympodia | CHAOS and double left ureter, strangulating amniotic band | CHAOS and agenesis of corpus callosum | CHAOS and VSD, transverse defect of the left hand |
BOF/TOF with Floyd classif.a | 2 | 2 | 2+ “bronchus suis” | 2 | 2 | NA | NA | NA |
BOF/TOF with Faro classif.b | C | C | C+ “bronchus suis” | C | C | G | G | G |
VACTERL Evans subgroupc | NA | NA | 3 | 4 | 4 | NA | NA | NA |
Family history/Consanguinity | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− |
Karyotype | 46,XN | 46,XN | 46,XN | 46,XN | 46,XN | 46,XN | 46,XN | 46,XN |
CNV analysis (aCGH and/or ES) | − (aCGH and ES) | ND | − (aCGH and ES) | − (ES only) | − (aCGH and ES) | ND | − (aCGH and ES) | − (aCGH and ES) |
Singleton- or Trio-ES/Result | Trio VUS in MAPK11 (de novo) | ND | Singleton − | Singleton − | Trio − | ND | Singleton − | Singleton − |