Table 1. Reported fetal findings by diagnosis.
OEIS complex/cloacal exstrophy | |
Diagnostic criteria | Four key criteria in the acronym |
Omphalocele | |
Exstrophy of the bladder | |
Imperforate anus | |
Spina bifida | |
Proposed common findings | Kidney malformations (up to 60% of cases 49 ) |
Hydroureter 49 50 | |
Hydronephrosis 49 50 51 | |
Congenital megaureter 16 52 | |
Pelvic kidney 16 53 54 | |
Duplex kidney 16 54 | |
Renal dysplasia 51 55 | |
Cystic dysplasia 16 49 50 | |
Renal agenesis 49 50 52 55 56 57 | |
Limb anomalies | |
Clubfoot with vertical talus 50 | |
Limb length discrepancy 53 | |
Bilateral clubfeet 16 53 56 | |
Neural tube defects 57 58 (70% of cases 49 ) | |
Spina bifida, myelocystocele 49 | |
Terminal myelocystocele 16 53 54 | |
Lumbosacral spina bifida 51 56 | |
Hindbrain herniation, lipomyelomeningocele 16 | |
Omphalocele 16 52 54 55 56 | |
Spine abnormalities | |
Kyphoscoliosis 49 50 | |
Sacral hemivertebra 55 | |
Pubic diastasis 51 | |
Missing bladder 16 51 52 53 54 56 | |
Single umbilical artery 16 52 54 55 | |
Abnormality of external genitalia 16 54 | |
Hypospadias 55 | |
Bifid corporal bodies 53 | |
Duplicated vagina, bifid scrotum, micropenis 56 | |
Ambiguous genitalia 51 | |
Case reports | Intrinsic cardiac abnormalities |
Moderate PDA, small PFO, mild tricuspid regurgitation 54 | |
ASD, atrioventricular valve, unroofed coronary sinus, persistent L SVC, LVH 55 | |
Single right ventricle 56 | |
Pentalogy of Cantrell | |
Diagnostic criteria | Five distinct criteria, partial cases may have fewer than five |
Intracardiac abnormalities | |
Anterior pericardial defects | |
Lower sternal defects | |
Anterior diaphragmatic defects | |
Supraumbilical abdominal wall defects 12 | |
Proposed common findings | Ectopia cordis 4 8 22 24 26 59 |
Intrinsic cardiac malformations | |
ASD 4 26 50 | |
VSD 4 8 24 50 | |
Tetralogy of Fallot 4 22 24 26 50 | |
Left ventricular diverticulum 26 50 | |
Transposition of the great vessels 26 | |
Tricuspid atresia, dextrocardia, anomalous cardiac venous return 8 | |
Neural tube defects 26 58 | |
Midline supraumbilical abdominal wall defect | |
Omphalocele 4 8 22 26 50 59 | |
Diastasis recti abdominis, umbilical hernia, epigastric hernia 50 | |
Ventral hernia, open defect 26 | |
Supraumbilical hernia 24 | |
Sternal defects | |
Bifid sternum 4 26 | |
Cleft sternum 4 22 24 | |
Absence of xiphoid 8 | |
Split sternum 26 | |
Diaphragmatic defects | |
Anterior diaphragmatic hernia 4 24 26 59 | |
Pericardial defects | |
Pericardial hernia 4 50 | |
Absent pericardium 26 59 | |
Umbilical cord defects | |
Single umbilical artery 8 22 60 | |
Short cord, hypercoiled cord associated with POC + ectopia cordis 8 | |
Facial defects | |
Cleft lip and/or palate 26 | |
Case reports | Aplastic left limb 61 |
Spinal defect 62 | |
Hypoplastic lung 26 | |
Bronchopulmonary dysplasia, hypoplastic kidney, cleft lip and palate, pulmonary atresia 4 | |
Gastroschisis, twin reversed arterial perfusion sequence 8 | |
Nonrotation of the midgut, accessory spleen 22 | |
Limb–body wall complex | |
Diagnostic criteria | Two of the following |
Exencephaly or encephalocele with facial clefts | |
Thoraco- and/or abdominoschisis | |
Limb defects 7 63 | |
Two distinct phenotypes | |
Craniofacial defects often with cranioplacental adhesion and or amniotic bands | |
No craniofacial defects but abdominal–placental attachment with short/absent umbilical cord and urogenital anomalies 35 | |
Body stalk anomaly | |
Large abdominal wall defect with herniation of abdominal contents into the extraembryonic coelom | |
Absent or rudimentary umbilical cord 34 | |
Proposed common findings | Absent/rudimentary/short umbilical cord 32 34 47 58 |
Limb anomalies | |
Pseudosyndactyly without amniotic bands, oligodactyly, polydactyly, split hand and foot, single bone forelimb, forebone abnormalities, absent limb and limb girdle, absent muscles and arthrogryposis 7 63 | |
Clubbed feet, single lower limb 34 | |
Bilateral clubbed feet 32 | |
Club foot, rocker bottom foot 47 | |
Neural tube defects 46 58 | |
Exencephaly or encephalocele 7 63 | |
Abdominal wall defects | |
Abdominoschisis 34 64 | |
Omphalocele 32 39 47 | |
Skeletal abnormalities | |
Kyphoscoliosis 32 34 | |
Scoliosis 46 47 64 | |
Craniofacial abnormalities 28 34 | |
Case reports | Encephalocele, anophthalmia, bilateral cleft lip, thoracic cleft with ectopia cordis, omphalocele, short umbilical cord, single umbilical artery 39 |
Ectopia cordis 11 | |
Anencephaly 32 | |
Abdominoschisis, diaphragmatic defect 39 | |
Agenesis of the anal canal, agenesis of the genitourinary tract, hypoplastic lungs 64 | |
Absent diaphragm, bowel atresia, renal agenesis, anal atresia, no external genitalia 44 | |
Anal atresia, no external genitalia, no urinary bladder, hypoplastic lungs 47 |
Abbreviations: ASD, atrial septal defect; OEIS, omphalocele, exstrophy, imperforate anus, spina bifida; PDA, patent ductus arteriosus; PFO, patent foramen ovale; SVC, superior vena cava.