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Radiology
22q11.2 Deletion Syndrome
Built from Obstetric Imaging
What’s inside
11 sections · 90 slides
Overview
- What you will learn
What this condition is
One missing stretch of DNA, and the many names it once had
- The idea in one line
- What 'microdeletion' means
- One deletion, many old names
- Why all those names collapsed into one
- What the formal definition actually says
How common is it
Population figures, prenatal figures, and why they disagree
- 1 in 2000
- How common in the population
- Higher figures once you start testing
- Why so many cases go uncounted
Why it happens
The repeats that cause it, the genes inside it, the embryo it disturbs
- Where the missing piece comes from
- How big is the missing piece
- Which genes are lost
- Genes, thinking and mood
- Where the deletion came from
- Who passes it on
- Why the risk is never quite zero
- Why such different organs are affected together
- The embryo's shared building site
- The two signature heart lesions
What it looks like after birth
Face, palate, thymus, calcium, learning and mood
- One deletion, very different people
- How to read the clinical features table
- Clinical Manifestations of the 22q11.2 Deletion Syndrome
- Clinical Manifestations of the 22q11.2 Deletion Syndrome (continued)
- The typical face
- The palate, speech and feeding
- Immune system and calcium
- Learning, behaviour and mental health
- The rest of the body
Finding it before birth
The views that matter, and every scan finding worth chasing
- How prenatal cases come to light
- The scan that matters most
- How to read the prenatal findings table
- Prenatal Ultrasound Findings Associated With 22q11.2 Deletion Syndrome
- Prenatal Ultrasound Findings Associated With 22q11.2 Deletion Syndrome (continued)
- The heart defects, by how often they occur
- Tetralogy of Fallot: what to look for
- Tetralogy of Fallot on the four-chamber view
- A gap in the aortic arch
- Interrupted aortic arch, type B
- A narrowed arch, not a broken one
- One trunk instead of two vessels
- Truncus arteriosus: normal four chambers, one outflow
- The single outflow tract, enlarged
- Hypoplastic left heart
- Rudimentary left ventricle with a dominant right ventricle
- When the centre of the heart fails to divide
- Atrioventricular septal defect on the four-chamber view
- The palate: what a scan can and cannot see
- Too much amniotic fluid
- The thymus: a small gland worth hunting for
- Three vessels and trachea view in a normal fetus
- Labelled anatomy on the three vessels and trachea view
- The kidneys
- Horseshoe kidney in front of the fetal spine
- The fused renal mass outlined
- A kidney replaced by cysts
- Multicystic dysplastic kidney in the right renal fossa
- Other findings worth chasing
- Rarer still
Other imaging
Where MRI, 3D ultrasound and fetal echocardiography fit in
- Where fetal MRI helps
- 3D ultrasound and fetal echocardiography
- Who should be sent for a targeted scan
- What the echocardiogram changes
Genetic testing
FISH, microarray and screening from the mother's blood
- How the deletion is actually found
- Screening from the mother's blood
- What blood screening is changing
- From an abnormal scan to a birth plan
What else could it be
Syndromes that overlap on the scan
- Overlapping syndromes: part one
- Overlapping syndromes: part two
Management and counselling
What to do before birth, at birth, and for years afterwards
- Before birth: there is no cure to offer
- Counselling the parents
- Reproductive options for a carrier couple
- Planning the delivery
- Who belongs on that team
- After birth: what decides the outcome
- Why finding it early may protect the brain
- The long haul
Take it away
The classic signs, the referral message, the key points
- Classic signs: the heart and the face
- Classic signs: the rest
- What the referring physician needs to know
- The harder parts of that conversation
- Key points: recognise it
- Key points: act on it
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition