Prenatal Screening

A pregnant woman experiences excitement, anticipation, and anxiety. You might worry about your baby’s health. Despite most babies being born healthy, knowing your options for obtaining information about them is crucial.

Types of prenatal testing

The two main types of prenatal testing are:

  • Screening tests. Certain birth defects, many of which are genetic disorders, can be identified during prenatal screening. Prenatal cell-free DNA screening, blood tests, and ultrasounds are among these tests. In the first or second trimester, prenatal screenings are offered. Screening tests can’t make a definitive diagnosis. Your health care provider will discuss diagnostic testing options if results indicate an increased risk of genetic disorders.
  • Diagnostic tests. If a screening test indicates a problem – or if your age, family history, or medical history increase your risk – you might consider an invasive prenatal diagnostic test. A diagnostic test is the only way to be sure of a diagnosis. Cervionic villus sampling and amniocentesis, for example, carry a slight risk of miscarriage.

Types of screening tests

Prenatal screening tests include:
  • First trimester screening tests. During your first trimester, your health care provider will offer a blood test and an ultrasound to measure the size of the clear space in the tissue at the back of a baby’s neck (nuchal translucency). In Down syndrome and certain other conditions, the nuchal translucency measurement is larger than usual.
  • Second trimester screening tests. During your second trimester, your health care provider will offer another blood test called the quad screen. This test measures the levels of four substances in your blood. Results indicate your risk of carrying a baby who has certain chromosomal conditions, such as Down syndrome. The test can also help detect neural tube defects — serious abnormalities in the brain or spinal cord.
  • Prenatal cell-free DNA screening. This blood test examines fetal DNA in the maternal bloodstream to screen for the increased chance of specific chromosome problems, such as Down syndrome. This screening can also provide information about a baby’s sex and Rh blood type.

Questions to consider

Prenatal screening tests for fetal abnormalities are optional. It’s critical to make an informed decision about prenatal testing, especially if you’re screening for fetal conditions that can’t be treated. Before going forward, consider these questions:

  • What will you do with the test results? Test results within the standard range can ease your anxiety. However, if prenatal testing indicates that your baby might have a birth defect, you could be faced with wrenching decisions — such as whether to continue the pregnancy. On the other hand, you might welcome the opportunity to plan for your baby’s care in advance.
  • Will this information shape your prenatal care? Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal testing alerts your health care provider to a condition that requires immediate treatment after birth.
  • How accurate are the results? Prenatal screening isn’t foolproof. The rate of inaccurate results, known as false-negative or false-positive results, varies from test to test.
  • What are the risks? Weigh the risks of specific prenatal tests — such as anxiety, pain or possible miscarriage — against the value of knowing the results.

The decision to pursue prenatal testing is up to you. If you’re concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for help choosing a test and understanding the results.

Taking the time to evaluate your options will help you make the right decision for you and your baby.

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