Screening & diagnostics

Core screening & diagnostics

1.4.1 Prenatal screening

One of the most important aspects of pregnancy is ensuring the health and well-being of both the mother and the developing baby. A variety of prenatal tests can provide valuable information about the baby’s health: screening tests, which are non-invasive and pose no risk to the fetus, assess the likelihood of a genetic condition or birth defect, whereas diagnostic tests are more invasive but provide a definitive diagnosis.

 

Screening Tests

First-trimester screening: Includes a blood test and an ultrasound to measure nuchal translucency to assess the risk of chromosomal abnormalities like Down syndrome and Trisomy 18. (Mayo Clinic)

Second-trimester screening (Quad screen): A blood test that measures four substances to assess the risk of certain genetic conditions and neural tube defects like spina bifida. (Johns Hopkins Medicine)

Cell-free DNA screening: A non-invasive blood test that can be done at any stage to screen for a higher risk of conditions like Down syndrome and Trisomy 18. (Mayo Clinic)

 

Diagnostic Tests

Amniocentesis: A sample of amniotic fluid is taken to test for genetic conditions and certain birth defects. It’s typically recommended after an abnormal screening test or for high-risk pregnancies.

Chorionic villus sampling: A sample of placental tissue is taken to test for genetic conditions. It can be performed earlier in pregnancy than amniocentesis but carries a slightly higher risk of miscarriage.

  1. 1.1 Introduction
  2. 1.2 Strategy
    1. 1.2.1 Considerations by age group
  3. 1.3 Policy
    1. 1.3.1 Policy interventions
  4. 1.4 Private sector
    1. 1.4.1 Prenatal screening
    2. 1.4.2 Postnatal and childhood screening
    3. 1.4.3 Clinical health screening
    4. 1.4.4 Screening for old age disorders
    5. 1.4.5 Self-examinations
    6. 1.4.6 Screening for high risk individuals