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Diagnostic Imaging Pathways - First Trimester Screening

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Teaching Points

  • A combined test is used for the detection of first trimester Down’s Syndrome and other fetal aneuploidy. The test components includes -
    • Maternal Serum β-hCG
    • Pregnancy associated Plasma Protein A
    • The sonographic measurement of fetal nuchal translucency
  • The combined test detects Down’s Syndrome in 85% of cases, with a false positive rate of 5%.
  • A positive screening test indicates that a woman has a High Risk of a chromosomal fetal abnormality and further diagnostic tests are recommended. These include -
    • Chorionic Villus Sampling
    • Amniocentesis

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