This month we have 2 articles that talk about genetic issues in the NICU. The first one, an article on Stickler syndrome, discusses a disorder that occurs more commonly than many readers may have been aware of. The second article looks at the experiences of parents when expecting a child with a congenital anomaly. Both issues are important for neonatal nurses. In the NICU, nurses and other healthcare providers frequently deal with issues of assessment, genetic testing, and caring for families dealing with genetic issues. It is important for healthcare providers in the NICU to become competent in genetic knowledge and ways to support patients and families.1,2

There is a lot of discussion about genetic testing and genetic screening among both healthcare professionals and the public. As genetic testing and screening becomes more common, more questions arise as to its impact on healthcare. Some of these changes will improve our understanding of disease and allow us to develop targeted therapeutic interventions.3 It will allow identification of individuals at high risk for disease and direct healthcare and lifestyle interventions that may decrease their risk. An understanding of the interaction between genetic risk and environmental exposure may change the approach to management of disorders or potential disorders.4 Determining risk factors may influence family planning decisions.

The study of genetics also raises a number of ethical, legal, and social dilemmas that may be more challenging than the medical aspects. Who should get tested and for what is one question. What do we do with the information is another. One author raises the question of how much knowledge of a disease potential such as diabetes really leads to significant lifestyle changes.4 Does the knowledge that a person is at risk for developing diabetes result in significant changes in diet and exercise? There is evidence that despite knowing what they ought to do, what clients really do is not the same. Other issues such as economic and social status, cultural norms, access to healthcare, and lack of support play large roles in lifestyle choices.

Prenatal genetic testing has become an almost routine part of obstetrical care in the United States. The American College of Obstetricians and Gynecologists recommends that all pregnant women, regardless of their age, should be offered screening for Down syndrome, and that all pregnant women, regardless of their age, should have the option of diagnostic testing.5,6 Tests are available for increasing numbers of conditions, some severe, some less so. As nurses, it is important to be aware of the choices facing parents, and how to help them deal with the results of those choices.

Nurses have been taught the importance of avoiding personal judgments on patients and to strive to remain neutral and nondirective. Parents facing the dilemma of a prenatal diagnosis must make a decision with as much information as possible. Healthcare professionals aim to present as much "medical" information as possible, to help parents make an informed decision. However, parents depend heavily on the social, environmental, and psychological contexts, and make decisions based on their own perspectives of health, illness, personal values, and beliefs.5 Healthcare professionals must acknowledge this aspect of decision making and examine their own biases in how information is presented. One study noted that physicians reported that when delivering a prenatal diagnosis of Down syndrome, their emphasis on the positive or negative aspects depended heavily on what they believed was best for their patient.7 This did not go unnoticed by their patients, who felt that their primary care provider did not necessarily support their decisions. Nurses and other healthcare providers must acknowledge their own biases and question how that bias affects interaction with parents and families.

Nurses and other healthcare providers in the NICU or well baby nursery must have an underlying basic understanding of genetic principles. The initial newborn assessment is almost always done by a nurse who may note unusual features or unexpected findings. Assessment of physical features, growth, and behavior may identify cues to potential problems. A clear understanding of what is normal will facilitate identification of abnormal findings. Nurses must become experts in physical assessment of neonates.

Newborn screening for genetic disorders is done in all states, although tests may differ from state to state. It is important to know what tests are done and to be clear about the terminology. While other healthcare providers might understand what is meant by the "PKU test," parents may be led to believe that their baby is being tested for phenylketonuria (PKU) because someone thinks his or her baby has it. It is important to remember that genetic screening is not the same as genetic testing.2 Genetic testing involves analyzing DNA, chromosomes, and genes, as opposed to screening that includes both genetic disorders such as PKU and nongenetic disorders such as hypothyroidism.2

Testing for genetic conditions occurs frequently in the NICU and parents often have questions about such tests. Nurses must be educated regarding testing methods such as karyotypes (number and structure of chromosomes), high-resolution testing (used to visualize subtle differences in chromosome structure and configuration), and fluorescence in situ hybridization studies that use fluorescent probes to identify specific chromosomes or sections of chromosomes. Knowing what tests are done, what is being studied, and when the results are expected will help when explaining the process to parents.

Parents who have a child with a genetic disorder require support and information from healthcare providers. Typically repeated explanations are required. Parents are often overwhelmed by the amount of unfamiliar terminology and information. When the diagnosis is discovered at birth, they may not have had time to digest the information and rely on nurses for support and information. Nurses may feel overwhelmed themselves, not only with the complexity of information, but by the emotional strain of supporting a family who is in crisis. Knowing what resources are available to help nurses and families and becoming familiar with the diagnosis can help. There are a number of Web-based resources and community organizations that can help staff and families understand various disorders.

As genetics becomes a more specialized and widely used field, it is important that nurses receive needed education. Genetics is being added to curriculums in basic nursing programs and in advanced practice nursing education. Nurses working with neonates and their families must make an effort to seek out education on basic genetics such as patterns of inheritance, genetic disorders, and methods of genetic testing.3 This information will have to be increasingly incorporated into daily practice. In addition to clinical information, the ethical implications of genetic testing and decision making cannot be ignored. To provide comprehensive, competent care of newborns, this information cannot be left out of the nursing process.

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