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The first 25 slides, exactly as they appear. The full deck has 76 content slides.
Radiology
Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome)
Built from Obstetric Imaging
What’s inside
8 sections · 76 slides
Overview
- What this deck covers
The condition in plain terms
What is missing, and what that does to a baby
- Start with the chromosome
- What 4p deletion syndrome is
- The four things that define it
- Two names for one condition
- The face you learn to recognise
- What the body shows besides the face
- What happens after birth
- How do these children do?
How common, and where it comes from
Prevalence, and whether a parent carries it
- 1:20,000
- Where the missing piece comes from
- De novo: brand new in this baby
- Inherited: a parent carries a swap
The genetics behind it
The 4p16.3 critical region and the genes inside it
- What exactly is missing
- Two genetic routes to the same syndrome
- What a survey of 109 cases found
- How big is the missing piece?
- The critical region and its genes
Making the diagnosis
From a blood screen to a confirmed genetic answer
- Three tests, three levels of detail
- Karyotype: the wide-angle view
- FISH: aim a probe at the spot
- CMA: the recommended test
- Screening the mother's blood
- Why a positive screen is not an answer
- What to do after a positive screen
- Screening test versus diagnostic test
What the scan shows
Every reported prenatal ultrasound finding, on real images
- The two findings that dominate
- Looking closely at the growth restriction
- Why every sonographer should know this
- Reading the frequency table
- Prenatal Ultrasound Features of 4p Deletion Syndrome
- Prenatal Ultrasound Features of 4p Deletion Syndrome (continued)
- Findings around the head and neck
- Fluid sacs behind the fetal neck
- A head that is too small
- Inside the skull
- Reading the fetal face
- A split in the upper lip
- A small, receding lower jaw
- Eyes set too far apart
- Checking for the nasal bone
- The heart in 4p deletion syndrome
- An abnormal four-chamber heart view
- Blood crossing a hole in the heart
- Abdomen, kidneys and gut
- Bowel that looks too bright
- Limbs and skeleton
- A foot turned the wrong way
- Genitalia and the umbilical cord
- Abnormal male external genitalia
- A cord with only two vessels
- Counting cord vessels beside the bladder
- The thread running through it all
- When MRI adds something
- Three-dimensional ultrasound and the face
Signs, look-alikes and management
What you can see, what you cannot, and what to do
- What you can see before birth
- What the scan cannot show you
- Conditions that can look the same
- More look-alikes to keep in mind
- How to narrow the list
- Before birth: no cure, but plenty to discuss
- After birth: supportive care
- Development, infection and surveillance
- Do not forget the family
What the referring clinician needs to know
Referral, parental testing, and the next pregnancy
- The referral message
- Test the parents' chromosomes
- Options for the next pregnancy
- Tell the wider family
- Key points
- Six things to carry away
- References
- References (continued)
- References (continued)
- References (continued)
- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition