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The first 25 slides, exactly as they appear. The full deck has 81 content slides.
Radiology
Lymphedema and Lymphatic Malformations
Built from Obstetric Imaging
What’s inside
11 sections · 81 slides
Overview
- Scope and roadmap
Definitions and associated conditions
What lymphedema is, and the fetal form that matters most
- Lymphedema defined
- Primary and secondary lymphedema
- Classification of lymphatic disorders
- Cystic hygroma defined
- Nonimmune hydrops fetalis
- 1:200
- How common these conditions are
- 1-1.3
Inherited syndromes with lymphedema
The named conditions that show lymphatic failure before birth
- Inherited causes of primary lymphedema
- Milroy disease
- Noonan syndrome
- Neurofibromatosis
- Adams-Oliver and Hennekam syndromes
- Chromosome 15 syndromes
- Aagenaes and lymphedema-distichiasis syndromes
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Primary pulmonary lymphangiectasia
Differential diagnosis
Other fetal neck lesions that can look similar
- Differential diagnosis of a fetal neck lesion
Ultrasound diagnosis
What the scan shows, how it is measured, and what it predicts
- Sonographic appearance of cystic hygroma
- Septated cystic hygroma at 22 weeks
- Colour Doppler view of the neck collection
- Longitudinal greyscale view of the same collection
- Septated versus nonseptated cystic hygroma
- Size, septation and prognosis
- Nuchal translucency measurement
- Nuchal translucency measured in the midsagittal view
- Increased nuchal translucency and risk
- Fluid behind the neck in a first-trimester fetus
- Other ultrasound features
- Serial ultrasound surveillance
- Fetal echocardiography
- Magnetic resonance imaging
How lymphatic malformations arise
Embryology, lymphangiectasia and the route to hydrops
- Nature and sites of lymphatic malformations
- Embryologic failure behind cystic hygroma
- The embryology in words
- Lymphangiectasia of internal organs
- Chylothorax
- Fetal chylothorax on ultrasound
- Mechanism of nonimmune hydrops
Associated genetic and structural abnormalities
What else to look for once a hygroma is seen
- Aneuploidy associated with cystic hygroma
- Single X chromosome in Turner syndrome
- Three copies of chromosome 21 in Down syndrome
- Genetic syndromes reported with cystic hygroma
- Anomalies found when the karyotype is normal
- Associated Malformations With Cystic Hygroma
- Reading the list of associated genetic abnormalities
- Associated Genetic Abnormalities With Cystic Hygroma
- Associated Genetic Abnormalities With Cystic Hygroma (continued)
- Associated Genetic Abnormalities With Cystic Hygroma (continued)
- Associated Genetic Abnormalities With Cystic Hygroma (continued)
How it presents by trimester
First-trimester signs, second-trimester signs, and what happens next
- First-trimester presentation
- Second-trimester presentation
- Classic signs of fetal lymphedema by trimester
- Natural history of cystic hygroma
Genetic testing
Karyotype, FISH, microarray and where cell-free DNA falls short
- Indications for genetic testing
- Karyotype as the first-line test
- Amniocentesis under ultrasound guidance
- Fluorescence in situ hybridization
- Cell-free DNA screening
- Chromosomal microarray
- Advantages and drawbacks of microarray
- Sequence of genetic tests
- Targeted testing and genetic counselling
Treatment
Prenatal care, fetal intervention, surgery and injected agents
- Prenatal management
- In utero treatment
- Drainage of fetal pleural fluid
- Candidates for fetal intervention
- Postnatal surgical excision
- OK-432 and bleomycin injection
- Genes identified in primary lymphatic disorders
- Delivery planning and the EXIT procedure
Key points
What to remember, and what the referring physician needs
- Classic signs by trimester
- Key points
- What the referring physician needs to know
- Take-home summary
- References
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition