Diagnostic Tests

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  • Diagnostic tests in pregnancy
    • Screening Tests
      • Estimate risk of baby being born with conditions such as Down's or Spina Bifida
      • Aim is to detect disease or condition in early stages
        • Before significant problems are caused
      • Safe, painless, don't harm baby
    • Ultrasound Scan
      • Checks size of foetus
      • Looks for multiple pregnancies
      • Used to diagnose problems like miscarriage
      • Determines sex of baby
      • May be used with nuchal fold translucency test
      • Checks right amount of fluid is present
      • Checks baby's head, heart, spine, limbs and internal organs
      • Can identify some physical abnormalities
    • Nuchal Fold Translucency Test
      • 11-14 weeks
      • Checks for Down's
      • Ultrasound measures thickness of fluid around baby's neck
        • Babies with Down's have thicker layer
          • Offered CVS/amniocentesis
    • AFP (alpha-fetoprotein) Test
      • 15-18 weeks
      • Measures amount of AFP in blood
        • AFP=protein made by all unborn babies
        • Low levels mean increased chance of developing Down's
        • High levels indicate more than one baby/neural tube defects (eg. spina bifida)
    • MSS (Maternal Serum Screening)
      • 15-16 weeks
      • Sample tested for hormones such as AFP, HCG (human chorionic gonadotrophin)
        • Measurements analysed in combination with mother's age, weigh and exact gestation
          • Assesses risk of Down's
      • Results expressed as risk value or positive/negative screening
        • Negative = low risk     Positive = higher risk
        • Positive = offered amniocentesis
    • Amniocentesis
      • 15-19 weeks
      • Offered to women at high risk of having baby with Down's
        • Higher age group/previous tests have detected risk
      • Fine needle inserted into amniotic fluid
        • Guided by ultrasound
      • Amniotic fluid contains some cells from baby that are cultured in laboratory and analysed
        • Full results take up to 4 weeks
      • Slight risk of miscarriage
    • CVS (Chorionic Villus Sampling)
      • Fine instrument inserted into uterus
        • Sample of chorionic villi (finger-like projections in the placenta) is taken
          • Have same genetic material as baby
      • Looks for similar problems as amniocentesis
        • Does not test for neural tube defects
      • 10-12 weeks
        • Results available within a few days
      • Technically difficult
        • Not always successful
          • Slightly higher risk of miscarriage (than with amniocentesis
      • Not as accurate as amniocentesis


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