Table 3 Diagnostic revision in 41 scanned teratological fetuses
From: Radiological imaging of teratological fetuses: what can we learn?
Anomaly group | Previous diagnosis | Diagnosis after radiology |
|---|---|---|
Ventral body wall defects | - ventral body wall defect with cleft lip and encephalocele - ventral body wall defect with neural tube defect - ventral body wall defect (3×) | - amniotic band sequence with concomitant ectopia cordis, unilateral CLP and unilateral temporal encephalocele - vascular disruption sequence with concomitant occipital encephalocele and gastroschisis - OEIS complex with concomitant omphalocele - OEIS complex with concomitant gastroschisis and ambiguous genitalia - OEIS complex with concomitant gastroschisis and spina bifida |
Skeletal dysplasias (osteochondrodysplasias) | - achondroplasia (3×) | - thanatophoric dysplasia type I (case 1) - osteogenesis imperfecta type II (case 2) - short-rib polydactyly syndrome; not otherwise specified |
Congenital teratomas | - teratoma | - oropharyngeal teratoma/epignathus |
Conjoined twins | - conjoined twins (9×) | - cephalothoracoileopagus - prosopo-ileopagus - thoracoileopagus tribrachius - thoracoilieopagus tetrabrachius - ischiopagus tripus - ischiopagus tetrapus - diprosopus tetrophthalmus diotis with concomitant craniorachischisis totalis - parapagus dicephalus dibrachius dipus (case 3) - craniopagus |
Syndromes with multiple congenital anomalies | - syndrome (2×) - phocomelia | - Meckel-Gruber Syndrome - bilateral schisis (most likely trisomy 13) - tetra-amelia syndrome (case 4) |
Sirenomelia | - sirenomelia (7×) | - isolated sirenomelia type I (3×) - isolated sirenomelia type II - VACTERL association with concomitant sirenomelia type II - VACTERL-H association with concomitant sirenomelia type I - VACTERL-H association with concomitant sirenomelia type II |
Holoprosencephaly | - cyclopia (6×) | - alobar HPE (4×) - alobar HPE with concomitant otocephaly (2×) |
Neural tube defects | - iniencephaly (3×) - occipital encephalocele/exencephaly - craniorachischis - craniorachischis totalis | - iniencephaly - iniencephaly with concomitant semi-lobar HPE and omphalocele - iniencephaly with concomitant myelomeningocele - occipital encephalocele/exencephaly - craniorachischis - craniorachischis totalis |
Unknown specimen | - unknown diagnosis | - unknown diagnosis |