Obstetrics Book

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Trisomy Findings on Fetal Ultrasound

Aka: Trisomy Findings on Fetal Ultrasound
  1. Indications: Non-invasively assess trisomy risk
    1. Maternal age over 35 years
  2. General
    1. Trisomy risk Age >35 years
      1. Overall: 1 in 80
      2. With Negative Ultrasound: 1 in 400
    2. Ultrasound detects
      1. Trisomy 18: 100%
      2. Trisomy 21: 66%
  3. Screening: Rating system to assess for Trisomy
    1. Scoring
      1. Nuchal Fold (5mm)
        1. Assess at level of Cerebellum and cisterna magna
        2. Not predictive after 21 weeks
        3. 2 Points
      2. Short femur length
        1. 1 Point
      3. Cystic Hygroma
        1. Seen in Turners Syndrome, Trisomy 21, Idiopathic
        2. 1 Point
      4. Septal defect or other heart defect
        1. 1 Point
      5. Choroid plexus cyst
        1. 1 Point
    2. Interpretation: Score associated with Trisomy risk
      1. Age <35: Score >= 2 points
      2. Age >35: Score >= 1 point
  4. Evaluation: Findings suggestive of Trisomy
    1. Amniocentesis with karyotype

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