1. Section Editor(s): Riper, Marcia Van PhD, RN, FAAN

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Recent advances in genomics are dramatically altering the landscape of prenatal testing. Until recently, the two main types of prenatal testing were (1) noninvasive prenatal screening (i.e., maternal serum screening, nuchal translucency measurements, and ultrasounds) and (2) invasive diagnostic testing (i.e., chorionic villus sampling and amniocentesis). In October 2011, a new type of testing, noninvasive prenatal diagnosis (NIPD), was launched in major cities across the United States. With this type of testing, a diagnosis of Down syndrome can be made as early as 7 weeks postconception using a small sample of a pregnant woman's blood. While there are advantages to this type of testing (e.g., safe for the fetus, accurate results available early in the pregnancy, and less expensive than other diagnostic testing options), there are ethical, legal, and practical implications that need to be considered. A recent report by the Council for Responsible Genetics (2011) includes an in-depth discussion of the complex issues raised by the introduction of NIPD such as freedom of choice in reproductive decision-making, justice and access to care, and stigmatization and disability rights.


Maternal-child nurses need to become well informed about NIPD. As frontline healthcare providers, nurses will play a critical role in the integration of this type of prenatal testing into clinical practice. Unfortunately, there is growing evidence that many nurses and other healthcare providers lack the knowledge necessary to help pregnant women and their families make well-informed decisions regarding prenatal testing, especially the newest options in prenatal testing. Moreover, many healthcare providers are not prepared to address the ethical and social implications associated with prenatal testing. Because of this, there is a good chance that pregnant women who agree to undergo NIPD will do so with minimal understanding of the purpose, risks, benefits, and limitations of the testing. As a result, these pregnant women and their families may be unaware of the decisions that need to be made following a positive prenatal testing result. For example, a pregnant women who undergoes NIPD may not know that within a relatively short time after receiving a positive test result, she must decide if she wants to undergo invasive testing to confirm the diagnosis. Then, if a diagnosis of Down syndrome is confirmed, the pregnant woman and her family must decide if they want to (a) continue the pregnancy and keep the child, (b) continue the pregnancy and give the child up for adoption, or (c) terminate the pregnancy. Furthermore, much of the information used by expectant parents to make these difficult decisions is imprecise and probabilistic because a prenatal diagnosis of Down syndrome does not include fetus-specific information regarding level of intellectual ability and health status.


Given the speed with which genomic advances are changing the landscape of prenatal testing, greater attention needs to be paid to the type of information pregnant women receive prior to undergoing prenatal testing. There also is an urgent need for more dialogue among pregnant women, expectant families, healthcare providers, and disability advocates concerning the wide variety of prenatal testing options. Ideally, this will result in pregnant women and their families receiving more than only technical information about prenatal testing. That is, the technical information will be complemented by information about choices that need to be made following a positive test result, resources for families who receive a positive diagnosis of Down syndrome, and up-to-date information about life with Down syndrome in the 21st century.




Haymon, L. (2011). Non-invasive prenatal genetic diagnosis (NIPD). Council for Responsible Genetics. Retrieved from