Awais Hamza: Ultrasound Clues Every Sonographer Should Recognize for Patau Syndrome
Awais Hamza, Lecturer of Medical Imaging Technology at Riphah International University, shared a post on LinkedIn:
”PATAU SYNDROME (TRISOMY 13) — Ultrasound Clues Every Sonographer Should Recognize
Patau Syndrome is a severe chromosomal abnormality caused by an extra copy of chromosome 13 and is associated with multiple congenital anomalies, high fetal morbidity, and poor postnatal survival.
Key Prenatal Ultrasound Findings Include:
- Increased nuchal translucency in the 1st trimester
- Holoprosencephaly
- Microphthalmia
- Cleft lip and palate
- Postaxial polydactyly
- Congenital heart defects
- Omphalocele
- Echogenic or dysplastic kidneys
- Severe fetal growth restriction
One of the strongest imaging associations is holoprosencephaly combined with facial anomalies which should immediately raise suspicion for Trisomy 13.
Important Sonographic Pearl:
When multiple severe structural anomalies are identified together on ultrasound, always consider an underlying chromosomal abnormality and recommend detailed fetal assessment with genetic counseling.
Common Pitfalls in Scanning:
- Missing subtle midline brain abnormalities
- Inadequate facial evaluation
- Failure to examine digits carefully
- Poor magnification or incorrect imaging planes
- Ignoring combined structural findings
Early recognition plays a critical role in:
- Accurate diagnosis
- Appropriate counseling
- Pregnancy management planning
- Multidisciplinary care coordination
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