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Radiology
VACTERL Association
Built from Obstetric Imaging
What’s inside
9 sections · 74 slides
What VACTERL Is
A group of birth defects that keep turning up together
- Definition of the VACTERL association
- Component anomalies named by the acronym
- Origin of the VATER and VACTERL names
- Association versus syndrome
- Intelligence and long-term prognosis
- Care needs of long-term survivors
Making the Diagnosis
How many defects, and what has to be ruled out first
- Diagnostic criteria
- Anomaly count and the diagnostic label
- Component features clinicians weigh most
- Cardiac defects within the VACTERL spectrum
- 1:10,000 to 1:40,000
- Reasons the reported prevalence varies
How the Defects Arise
One early fault in the middle layer of the embryo
- Mesodermal origin of the defects
- Structures built from the mesoderm
- Primary developmental field defect
- From early insult to multiple anomalies
- Animal models of VACTERL
Genetic Contribution
Mostly sporadic, but genes keep being implicated
- Sporadic occurrence and familial cases
- Copy number variants as proposed causes
- Candidate chromosomal regions
- Sonic hedgehog signalling pathway
- Laterality and midline defects
- Genes identified in affected individuals
- Other candidate genes
- Reclassification of VACTERL genes into syndromes
- VACTERL with hydrocephalus
- Recurrence risk counselling
- Role of molecular testing
- Reported environmental associations
Anomalies in Each Component
What is actually found, system by system
- Vertebral anomalies: shape of the bones
- Vertebral anomalies: closure defects and ribs
- Anal atresia and rectal anomalies
- Tracheoesophageal fistula and associated atresias
- Renal anomalies
- Limb anomalies
- Cardiac defects: septal and outflow lesions
- Cardiac defects: position, flow and duct lesions
Prenatal Ultrasound
What can and cannot be seen before birth
- Prenatal detection of the association
- Prenatal detection rate by anomaly type
- Detection rates in one case series
- Vertebral findings on ultrasound
- Coronal view of the fetal spine with hemivertebrae
- Coronal view of the fetal spine with scoliosis
- Anal atresia on ultrasound
- Dilated bowel with intraluminal calcifications
- Tracheoesophageal fistula on ultrasound
- Absent stomach bubble on the fetal abdominal cross-section
- Interpreting the absent stomach bubble
- Renal findings on ultrasound
- Bilateral multicystic dysplastic kidneys
- Radial and limb findings on ultrasound
- Magnetic resonance imaging
Differential Diagnosis
The conditions that must be excluded first
- Conditions that overlap with VACTERL
- Differential diagnosis from imaging findings
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
Management
Nothing to do before birth; a great deal afterwards
- Prenatal management
- Postnatal management
- Delivery planning with a tracheoesophageal fistula
- Steps after a single anomaly is found
- What the referring physician needs to know
- Key points
References
Works cited in the source text
- References
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- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition