Table 2 Exome sequencing (ES) nondiagnostic cases
Proband ID | Prenatal USS findings | PM findings | Phenotype classification based upon USS and PM |
|---|---|---|---|
1 | NT measurement 4.0 mm, arthrogryposis | Skin webs, flexed contractures, severe bilateral talipes, webbed neck, micrognathia, reduced muscle bulk, subcutaneous edema | FADS |
2 | Asymmetrical ventriculomegaly (displacement of the midline), irregularity of the ventricular lining (possibly neuronal heterotopias), possibly absent corpus callosum, abnormal posterior fossa, single outlet to the heart, VSD | Large cranial vault, TOF, persistent left SVC, right-sided aortic arch, absent right umbilical artery, abnormally shaped thymus, severe dysplasia of the cerebellum with obliteration of the 4th ventricle, malformed brainstem and midbrain, atresia of aqueduct of Sylvius and 4th ventricle, enlarged right cerebral hemisphere, probable arachnoid cyst between hemispheres, abnormal deep white matter bundles in cerebral hemispheres | Multisystem |
4 | Short long bones and talipes | Small size, facial dysmorphia, prominent occiput, bilateral talipes, rhizomelic shortening of the limbs, wide-set nipples, osteopenic bones, horizontal ribs | Skeletal |
5 | Hydrops fetalis | Facial dysmorphia, nuchal edema, dilated left atrium and left ventricle, cardiomegaly, valvular aortic atresia | Cardiac |
6 | Small left ventricle, bilateral superior vena cavas, levocardia with significant ventricular imbalance, small slit-like left ventricle with some mitral inflow, perimembranous VSD, normal large vessels, HLHS Ebstein-type abnormality, DORV, abnormal left kidney | Overlapping fingers, bilateral talipes, dysmorphic ears, skin webbed neck, cardiomegaly, pulmonary stenosis with dysplastic valves, VSD, right ventricular pouch, persistent left SVC, small testis/thymus, ectopic left kidney | Multisystem |
7 | Polyhydramnios, micrognathia, right-side mild dilatation of the renal pelvis | Facial dysmorphia, hypoplastic lungs, CPAM-0, small gall bladder, small right kidney with dilated renal pelvis, simple renal cysts bilaterally, gracile bones (especially the clavicles, fracture of the right clavicle), excess of extramedullary hematopoiesis in the liver | Multisystem |
12 | Exomphalos, borderline ventriculomegaly | Omphalocele, bilateral talipes | Abdominal |
13 | Bilateral multicystic, dysplastic kidneys | Facial dysmorphia, pterygium of the neck, contractures of the upper limbs, bilateral talipes, transverse palmar creases, bilateral cystic–dysplastic kidneys, lung hypoplasia | Genitourinary |
14 | Growth restriction <10th centile | Retrognathia, ASD (secundum type), small thymus, lung petechiae, distended bladder with retained urine (no evidence of obstruction) | Cardiac |
15 | Unilateral ventriculomegaly | Macrocephaly, partly compressed skull, overlapping cranial bones, loose scalp, anteverted nares, small heart | Brain |
17 | Normal | Micrognathia, omphalocele, bilateral talipes, bilaterally three lobed lungs, irregularly shaped left kidney, cervical ribs | Multisystem |
18 | Long narrow chest, heart in unusual orientation, single multicystic dysplastic kidney, unilateral talipes, umbilical vein varix, minimal liquor | Facial dysmorphia, left-side talipes, caudal orientation of the heart, aortic valve dysplasia, rectal atresia, multicystic/aplastic renal dysplasia, lumbar and sacral vertebrae defects | Multisystem |
19 | Oligohydramnios, unilateral talipes,?absent bladder and kidneys, IUGR | Potter syndrome, bilateral talipes, malpositioned anus, transverse palmar creases (right hand), epicanthus, renal agenesis, unicornuate uterus, lung hypoplasia, irregularities of the sacrum vertebrae | Multisystem |
20 | Normal | Unilateral talipes, complete AV channel, DORV, pulmonary stenosis, symmetrical liver, absent gall bladder, right type isomerism of the lungs, auricles, absent spleen, right-sided stomach | Multisystem |
23 | Polyhydramnios | Abnormal posture of limbs (flexed legs in the hip and pointy feet), ulnar deviation of the hands and flexed thumbs, thin neck and diaphragm, lung hypoplasia, thin ribs, Arnold–Chiari type II (no cerebellar hypoplasia or spina bifida) | Brain |
26 | Congenital bladder neck obstruction | Subcutaneous edema, scoliosis, talipes and skeletal abnormalities, distended abdominal wall, anal atresia, abnormal genitalia, bladder neck obstruction with cystic bladder, rectal–vesical fistula, small lungs, small kidneys and adrenals, cystic–dysplastic change in kidneys associated to LUTO | Multisystem |
27 | HLHS | HLHS, 11 pairs of ribs, low-set eyes | Cardiac |
