Prenatal Testing

Prenatal screening is a series of tests performed during pregnancy to ensure the health of the mother and fetus. These tests can help detect and manage any problems that may arise during pregnancy.

Prenatal tests are divided into two categories:

Non-invasive tests: These tests do not pose a risk to pregnancy.

Invasive tests: These tests require the collection of a biopsy from the fetus, which can jeopardize pregnancy.

Non-invasive prenatal tests

Non-invasive prenatal tests are the most common and include:

  • Nuchal translucency assessment (AD): This test is performed between the 11th and 13th week of pregnancy and uses ultrasound to measure the thickness of the nuchal translucency, an area of fluid behind the fetus' head. An increased thickness of the nuchal translucency may indicate the presence of a chromosomal abnormality.
  • Biochemical marker test: This test is performed between the 11th and 13th week of pregnancy and analyzes maternal blood samples to detect biochemical markers that may indicate the presence of a chromosomal abnormality.
  • Non-invasive prenatal testing (NIPT): This test is performed between the 10th and 20th week of pregnancy and analyzes free fetal DNA (cfDNA) in the mother's blood to detect chromosomal abnormalities.

Invasive prenatal tests

Invasive prenatal tests include:

  • Trophoblast collection: This test is performed between the 11th and 15th week of pregnancy and involves the collection of a small sample of tissue from the placenta.
  • Amniocentesis: This test is performed between the 16th and 20th week of pregnancy and involves collecting a sample of amniotic fluid from the amniotic sac.
  • Pre- cardiocentesis: This test is performed between the 18th and 22nd week of pregnancy and involves collecting a blood sample from the fetus' heart.

What prenatal tests should I do?

 The prenatal tests you will do depend on your age, your medical history and the likelihood of having a child with a genetic abnormality.

Women at increased risk

Women at increased risk of having a child with a birth defect, such as women over 35, women with a family history of birth defects, or women diagnosed with certain medical conditions, may need to have more prenatal testing.

How do I receive the results of the prenatal tests?

 The results of prenatal tests will be discussed with your doctor. Your doctor will help you understand the results and make the right decisions for your pregnancy.

Tips for prenatal testing 

  • Make an appointment with your gynecologist as soon as possible after pregnancy.
  • Ask your doctor which prenatal tests are right for you.

Don't hesitate to discuss your concerns about prenatal testing with your doctor.

Athanasios G. Papanikolaou
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