Prenatal Testing/Screening

This information is meant to be used for educational purposes to inform providers, patients, and genetic service delivery stakeholders about genetics policy topics. Sharing of information, resources, or policy statements is no way an endorsement of stated positions by NCC.

Introduction

Prenatal screening is non-diagnostic testing that is done before birth. Prenatal screening can be used to determine if a fetus is at risk of having a specific condition. Prenatal screening typically returns results that let the parents know the risk that the fetus will be affected by a particular condition. For example, a fetus may have a risk that is <1/10,000, 1/300, or 1/2.

Prenatal testing, in contrast to screening, is a diagnostic test that is done before birth and determines if a fetus has a specific condition. In many cases, a fetus will have prenatal screening, then, if found to be at higher risk for a condition, the family can decide if they want to pursue prenatal testing. Prenatal testing is “diagnostic,” meaning it will determine if the fetus does or does not have a specific condition.

Prenatal testing is typically more invasive than prenatal screening. For example, a screen is often done by collecting a blood sample from the mother alone or with an ultrasound. Prenatal testing, on the other hand, is often done by amniocentesis, where a needle is used to collect amniotic fluid from the uterus. The amniotic fluid has skin and other cells from the fetus, which can be tested to determine if the fetus has a genetic condition. While low risk, amniocentesis does have the potential to cause miscarriages. Thus, medical providers typically only offer amniocentesis to those whose risk of having an affected fetus is higher than the risk of miscarriage.

Several policy issues arise when discussing prenatal screening. Several articles have been written on the ethics surrounding prenatal screening and testing. Click on the links below to learn more:

• “Ethical considerations in prenatal diagnosis“
• “Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions“
• “Ethical considerations in prenatal testing: Genomic testing and medical uncertainty”
• “Non-invasive prenatal testing: ethical issues explored”

Some examples of policy questions in prenatal screening/testing include:

• At what risk level should parents be offered prenatal screening or testing?
• What conditions should a baby be screened for?
• Can (or should) parents elect to screen their children for conditions that present in adulthood? Or, for conditions that are treatable?
  • If parents screen for these conditions, can they use this information for termination decisions?
• Should insurance companies provide coverage for prenatal screening?
  • If insurance companies provide coverage for prenatal screening, do they need to provide it for all pregnancies, or just “high-risk” pregnancies?

Legislation and Regulation

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Policy Positions