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Radiology
CHARGE Syndrome
Built from Obstetric Imaging
What’s inside
9 sections · 67 slides
Overview
- The whole topic in six lines
- How this deck is laid out
What CHARGE syndrome is
The name, the letters, and how common it is
- What the six letters stand for
- What kind of condition this is
- 1:10,000
- Where the name came from
- One condition, many organs
Making the diagnosis
Counting major and minor features
- The diagnosis is made by looking, not by testing
- How many features you need
- Diagnostic Characteristics of Charge Syndrome
- The diagnostic checklist as printed in the book
- Major feature: a gap in the eye
- Keyhole pupil of an eye coloboma
- Major feature: the back of the nose is blocked
- The route that choanal atresia blocks
- Major feature: the ear at three levels
- Why ear shape matters here
- The three parts of the ear
- Seeing the fetal ear on ultrasound
- Close view of the shortened outer ear rim
- Major feature: the cranial nerves
- The minor features: part one
- The minor features: part two
- A cleft seen before birth
The genetics
CHD-7, and what it means for the next pregnancy
- One gene is the only proven cause
- Where the gene sits and how big it is
- Where CHD-7 sits on chromosome 8
- What this family of proteins does
- From gene change to birth defects
- How often the gene test is positive
- Where the mutation comes from
- Risk of it happening again
- Why the risk is not zero when parents test normal
- Same gene, very different children
- Other genes under investigation
Organ by organ
What the syndrome does to the body
- The eyes
- The heart
- A hole between the pumping chambers
- The ears and balance organs
- The genitals and urinary tract
- The immune system
- The brain
- Thinking, growth and the limbs
What imaging shows
Ultrasound before birth, and the place of fetal MRI
- How often the scan is abnormal
- 25%
- What those three findings mean
- Other findings reported on prenatal scans
- How the fetus is checked before birth
- Where fetal MRI adds something
- Ultrasound and MRI side by side
What else it could be
Conditions with an overlapping picture
- The differential diagnosis list
- Why these five keep coming up
What happens next
Before birth and after birth
- The prenatal pathway
- Testing before birth, step by step
- Care after birth
Taking it away
What to remember and what to tell the family
- What the referring physician needs to know
- Key points
- Numbers worth memorising
- Five things to carry away
- References
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- Suggested reading
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition