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Prenatal Genetic Testing: Screening Vs. Diagnosis

For the greater part of our history, the ability to learn about the health of unborn children was limited. As medical technology advanced and our understanding of gestation improved, so did our vision. From palpation to the stethoscope, ultrasound to blood tests, we’re more aware than ever of our developing child’s health. We’ve recently seen the rise of a new form of testing that reveals more than ever. Prenatal genetic testing can reveal an immense amount about our growing child. This allows expectant families to identify and prepare for any unique challenges ahead for their baby.

Prenatal Genetic Testing: Screening Vs. Diagnosis

When deciding to have genetic testing done, there are two reasons to do the test. The first test performed is generally a screen test. This test will determine what the likelihood is that the growing child will develop certain conditions. While more invasive, a diagnostic test specifically checks to see if the child has developed a condition or disease.

Ultrasound measurements are combined with biochemical results to identify the risks of a serious birth defect developing. Conditions such as Trisomy 18 and Down’s syndrome can be tested for, along with certain spinal birth defects.  

Prenatal screening:

  • Are not diagnostic
  • Determine the likelihood of a disease, disorder, or condition developing
  • Are less invasive.

Diagnostic screening:

  • Are more invasive than screening
  • Determine whether a child has specific conditions
  • Are definitive in their results

These tests are frequently used in older women, as birth defects can be more frequent during their pregnancies. Ethnicity, age, blood test, and ultrasound results are used to assess their risk. These tests are most effective when combined with carrier testing that determines if the mother is likely to pass on any congenital concerns.

Another form of test that may be performed is a prenatal cell-free DNA (cfDNA) screening test. This form of blood test will determine the sex of the baby. It also provides information about the child’s risk of developing a chromosomal disorder. It typically is performed when a woman enters her 10th week of pregnancy and is highly recommended by most women’s health providers.

The reason an expectant mother may request this form of testing varies from case to case. In most cases, the mother’s awareness of their own risk of having a child with a disorder or birth defect drives them. This information makes it possible for these women to make appropriate decisions and preparations for giving their children the best possible life.

Think You’re At Risk? Speak To A Women’s Health Provider

Your women’s health care specialist will be able to provide you with valuable information about prenatal screening. They’ll be able to do an initial risk assessment to determine if this form of test is necessary for your pregnancy. Regardless of their decision, you can always request that this screening be performed for your own peace of mind. Being well informed about your child’s health is the best way for you to prepare for your life ahead together. Call your provider today to get help!

In service in Montgomery since 1987, Capital Women’s Care in Rockville, MD is part of an expansive network of clinics providing women’s health care in Washington D.C., Maryland, Virginia, and Delaware. Our patients get the benefit of an immense amount of experience provided by some of the most respected women’s healthcare providers in the area.

In service in Montgomery since 1987, Capital Women’s Care in Rockville, MD is part of an expansive network of clinics providing women’s health care in Washington D.C., Maryland, Virginia, and Delaware. Our patients get the benefit of an immense amount of experience provided by some of the most respected women’s healthcare providers in the area.
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