Prenatal Testing/Screening

Updated On Feb 25, 2022

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:

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

Prenatal testing/screening are regulated in the same way as other genetic tests.

Genetic tests are regulated at a federal level by the Food and Drug Administration (FDA), the Centers for Medicare and Medicaid Services (CMS), and the Federal Trade Commission (FTC). For more information on how tests can be evaluated, review the National Human Genome Research Institute (NHGRI) website page about genetic testing.

Additionally, some states place additional regulations on genetic tests. The National Human Genome Research Institute (NHGRI) has also cataloged individual state statutes and legislation, which can be accessed here.

Are you interested in learning what your state’s government or the federal government are currently proposing for either legislation or regulation? Check out Legislative/Tracking system for up-to-date information and subscribe to our Twitter channel to get the latest updates in your pocket.

Policy Positions

Organizations working within the genetics community (national genetic organizations, advocacy organizations, etc.) have published positions on prenatal testing/screening. Explore these position statements below.

 

Position Statements by Organizations
ACMG position statement on prenatal/preconception expanded carrier screening
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Prenatal Testing/Screening
Date
April 24, 2013
Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
Organization
International Society for Prenatal Diagnosis (ISPD)
Subject
Prenatal Testing/Screening
Date
April 24, 2013
Position Statement from the Chromosome Abnormality Screening Committee on Behalf of the ISPD Board of Directors
Organization
International Society for Prenatal Diagnosis (ISPD)
Subject
Prenatal Testing/Screening
Date
April 8, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Prenatal Testing/Screening
Date
March 1, 2015
Prenatal Cell-Free DNA Screening
Organization
National Society of Genetic Counselors (NSGC)
Subject
Prenatal Testing/Screening
Date
April 23, 2021
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Prenatal Testing/Screening
Date
July 28, 2016
Access to Genetic Testing
Organization
American College of Obstetricians and Gynecologists
Subject
Prenatal Testing/Screening
Date
March 1, 2023
Prenatal Testing for Adult-Onset Conditions
Organization
National Society of Genetic Counselors (NSGC)
Subject
Prenatal Testing/Screening
Date
October 9, 2018
Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Prenatal Testing/Screening
Date
June 28, 2021
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
Organization
International Society for Prenatal Diagnosis (ISPD)
Subject
Prenatal Testing/Screening
Date
October 5, 2020

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