Clinical Care at the Genomic Interface: Current

Genetic Issues in Neonatal Nursing

Lauren Thorngate, RN, MS, CCRN and Chantel A.E.V. Rios, RNC, BSN

Although only 1 in 33 infants is born with a genetic condition, neonatal nurses have a growing responsibility
to integrate genetic competency into their clinical practice. This review article outlines the specific aspects of
assessment, genetic screening and testing, and communication of genetic information between provider and
patient in both the newborn and pregnancy period. Essential nursing competencies are introduced as a
framework for building a skill and knowledge set in clinical genetics as it applies to neonatal care. The
potential development of inquiry and research-oriented practice problems are also highlighted. The
exponential growth of human genetic and genomic information drives the need for neonatal nursing to
embrace the interface of clinical care and genetic issues.
© 2008 Elsevier Inc. All rights reserved.
Keywords: Neonate; NICU; Perinatal; Genetic; Genomic; Genetic consultation; Genetic testing; Parent
support; Nursing competency

Clinical genetics is not a new concept to neonatal care. What is
new and emerging is the breadth and depth of how the genetic
information can be used for better health outcomes for current
as well as future newborns. Nurses must now develop skills to
integrate the potential for genetic information into clinical
practice and caring for pregnant families and newborns. The
National Coalition for Health Professional Education in
Genetics and many nursing leaders, along with other genetics
professionals, have worked together to gain consensus and draft
a set of genetic competencies for all health professionals.1 These
competencies are an example of the critical importance of
clinically oriented genetic care and are endorsed by a broad list
of nursing and other specialty organizations, including the
National Association of Neonatal Nurses; the Academy of
Neonatal Nurses (LLC); and the Association for Women's
Health, Obstetric and Neonatal Nurses.2 The long-range goal of
the minimum competencies is to encourage clinicians and other
professionals to integrate genetics knowledge, skills, and
From the University of Washington Medical Center, Seattle, WA; University
of Washington School of Nursing, WA; NICU, MultiCare Medical Center.
Funding sources: This study received funding from the National Institute of
Nursing Research: Biobehavioral Nursing Research Training Program, T32
NR07106. and National Institute of Nursing Research: Women's Health
Nursing Research Training Program, T32 NR07039.
Address correspondences to Lauren Thorngate, RN, MS, CCRN, University
of Washington Medical Center, 1959 NE Pacific Street, Mailstop 356077,
Seattle, WA 98159. E-mail: laurent3@u.washington.edu
© 2008 Elsevier Inc. All rights reserved.
1527-3369/08/0801-0240$10.00/0
doi:10.1053/j.nainr.2007.12.013
attitudes into routine health care. This article will bring into
focus the importance of genetic assessment, testing, and critical
issues surrounding the care of families facing genetic issues in
prenatal and neonatal care settings. The supportive and clinical
roles of the neonatal nurse are outlined within a review of
current aspects of genetic testing and assessment.
The purpose of this article is to illuminate issues in neonatal
care whereby the expanding technologic and genomic revolu-
tion calls for an increase in knowledge and skill base and
prepares the reader to achieve an essential nursing competency
in genetics and genomics. By directing the focus to genetic
issues in neonatal care, we encourage neonatal nurses to
develop their own “genetic eyes”3 and recognize the implica-
tions and genetic issues within their practice arenas. The
potential development of inquiry and research-oriented practice
problems are also highlighted throughout this article.
The use of vignettes and brief clinical scenarios throughout
this article is intended to highlight the role and active
participation of the neonatal nurse in providing comprehensive
care with regard to genetic issues. Although the authors
recognize the enormous ethical considerations raised by the
ability to expand genetic information and testing earlier and
with more complexity throughout conception and pregnancy,
addressing that aspect of care is outside the scope of this article.
In addition, the topic of newborn screening is excluded from
this discussion because of coverage by other authors elsewhere
in the publication. Readers are also referred to the following
comprehensive review of newborn screening4 : “Newborn
screening and genetic testing.” The article will first present
genetic care of newborns, to be followed by a discussion of
issues that arise during the prenatal period.
Genetic Issues and Assessment in the Physical features can provide important insight into
potential genetic conditions, yet variations within normal
Neonatal Period range make generalizations of physical features difficult.
Part of recently enumerated genetic competencies of any Described here is an overview of physical features that
registered nurse is to apply and integrate genetic and genomic should initiate further clinical inquiry (for an abbreviated
knowledge into nursing assessments and to identify who may version, see Table 1). First, broad inspection of the infant for
benefit from specific genetic and genomic information and/or elements of symmetry including head, limbs, digits, and chest
services based on assessment data.2 provides a basic piece of data in a thorough assessment. In a
A mother gives birth to a 38-week-old female infant. Labor was situation where a neonatal nurse is asked to evaluate a child
unremarkable, but quickly after birth, the infant is noted to be that does not look quite right, the head and face of the
different. She is small for gestational age, weighing 2.2 kg, is newborn are often noted to be different. The head should be
generally limp, and has unusual facial features. Within an hour, the assessed for overall shape, symmetry, size, and condition of
neonatal intensive care unit (NICU) is contacted to evaluate the fontanels. Widening or offsetting of the eyes, nose, and ears is
child on the basis that she “does not quite look right.” a flag for potential complication.3 Particular attention to the
Everyday in NICUs around the country, neonatal nurses are eyes can identify further points of concern such as ptosis or
asked to assess newborns that are not under their primary retinal anomalies. Assessment of the mouth to include palate,
patient assignment. These expert nurses offer judgments and presence of natal teeth, and tongue characteristics are
insight into these infants quickly, oftentimes for colleagues in sometimes overlooked but give useful information. When
well-baby nursery and mother baby units. Neonatal nurses are any of these features are noted to be abnormal, it is not
quite skilled in assessing for conditions such as respiratory enough to simply state they are “different.” Measurement and
distress and feeding intolerance. Nonetheless, many neonatal documentation of how a feature is different is necessary for
nurses have knowledge to gain about identifying potential precision.8 Skin condition and pigmentation are frequently
genetic conditions.5 Although genetic conditions only affect assessed when examining for body symmetry and should be
approximately 1 in every 33 births,6 neonatal nurses must have noted for birthmarks or areas of dimpling and extra skin.5
an understanding of genetics to provide complete and timely Hair on the head and other areas of the body should be noted
care for patients. This section will provide useful information for texture, patterns, and color. The trunk should be assessed
for the practicing nurse on how to hone genetic assessment for any palpable masses and symmetry, including that for the
skills and manage the cascade of events that happen after a nipples. Limbs are noted for symmetry, length, joints, and
genetic condition is suspected. Common signs and symptoms digit characteristics such as webbing or clinodactyly, a curving
of a potential genetic condition will be outlined to increase the of the little finger toward the fourth or ring finger. Ambiguous
awareness for early detection and intervention. Standard
laboratory testing used for genetic diagnosing and the process
of genetic consultations will be described to provide a roadmap
for clinical practice. Table 1. Signs and Symptoms of a Potential
Newborn Genetic Condition
Body Specific Assessment Point
Common Signs and Symptoms of Genetic
Region Area
Conditions in Newborns
Skin Birthmarks, condition,
The female infant is brought to the NICU for evaluation. The pigmentation, dimpling,
neonatal nurse must complete a comprehensive physical examina- extra skin
tion that will capture her presentation. The nurse notes several Head and Fontanels Tense or sunken, missing
points in the assessment as being abnormal or inconsistent with Neck Eye ⁎ Protrudance, size, ptosis
gestational age. She wonders if these findings could highlight a Ears ⁎ Position on head, shape
potential genetic condition. and size
At this point in the scenario, the neonatal nurse must gather Nose
assessment information from a variety of sources including Mouth Natal teeth, tongue
monitoring, physical assessment findings, and any existing characteristics, palate
laboratory studies. As noted in our discussion of prenatal Hair Patterns, location, texture
genetics, a thorough history is an important starting point for an Trunk ⁎ Nipple location, umbilical
understanding of genetic risk for a patient.7 In the scenario cord, palpable masses
above, the female infant did not have any known family history Extremities Joints ⁎ Range of motion, reflexes
of genetic conditions, so the nurse is left with only the Digits ⁎ Absence, webbing, length,
information gathered since birth. Knowledge of the most clinodactyly
common signs and symptoms of a genetic condition will Genitalia ⁎ Ambiguity, size, misshapen
emphasize how nurses can focus their assessment when a child
⁎Denotes need for assessment of symmetry.
does not look quite right.

VOLUME 8, NUMBER 1, MARCH 2008 37

or anatomically disproportionate genitalia also identifies a
need for further testing.
Physical functioning examination starts with an undisturbed
child and moves into evaluation of specific behaviors. General
tone notes the muscular and/or neurologic capabilities of the
newborn. Observe the child at rest and during time of arousal.
Observe if the infant responds to stimulation, such as noise.
Although somewhat dependent on gestational age, newborns
are able to recognize faces and turn toward noise.9 If this is
absent or significantly delayed, it should be noted as abnormal.
Newborn reflexes are too numerous for individual description
here, but any abnormal reflex finding warrants more investiga-
tion (refer reader to MacDonald et al10 for complete newborn
reflex descriptions). Difficulty with oral feeds can indicate poor
coordination and neurologic or physical conditions. In the
absence of other explanations or in combination with other
unusual physical findings, this too can contribute another layer
of information for genetic conditions.
The above-described signs and symptoms are notably vague
and can be completely benign. For example, low-set ears can be
familial or can indicate Turner's syndrome. Oftentimes, genetic
conditions are diagnosed by ruling out other diagnoses.
Hypotonia could be related to prematurity, traumatic birth, or
low blood glucose.5 However, hypotonia could also reflect a
variety of genetic conditions. Nurses can use these indicators of
a genetic condition to further refine their assessment skills and
alert providers to potential cases that need more evaluation.
Advancement of genetic knowledge and technology has
already changed biomedical models of assessment for genetic
components. For example, recent medical literature shows how
a genomic assessment algorithm is now recommended where a
newborn demonstrates hypotonia. The algorithm is based on
review of research demonstrating that hypotonia has strong
correlation to a large number of conditions with genetic etiology
that can be confirmed by molecular or other diagnostic testing.11
Nurses at all levels, whether in education, research, or
practice, can exercise nursing genetic competency. One
avenue is through determining whether there are signs and
symptoms that should, based on existing evidence of
association with genetic etiology and confirmable by diag-
nostic testing, be included in assessments. Lashley3 enumer-
ates several assessment findings that are signs of genetic
conditions, including hypotonia referred to above, that clinical
research in neonatal settings could consider as triggers for
genetic assessment algorithms. With an increasing evidence
base of associating newborn signs and symptoms with genetic
etiology, nursing at all levels must stand competent to
broaden the range and depth of newborn assessments to
participate in genetic assessments.
Common Laboratory Testing for Genetic Conditions
After the comprehensive assessment by the neonatal nurse,
several areas of abnormal findings are noted. The attending
physician orders a series of genetic screenings. The neonatal
nurse wonders about the rationale for each test and how
they vary.
38 NEWBORN & INFANT NURSING REVIEWS
After a complete physical examination, the next step in the
cascade of events started by a request for evaluation is
laboratory testing. There are numerous genetic tests that can
be ordered, the most common being karyotyping, extended
banding chromosome studies, fluorescence in situ hybridization
(FISH) studies, and chromosomal microarray analysis.3 Con-
sidering that the neonatal nurse is most often collecting the
specimen for testing and is exposed to the results, a full
understanding of these 4 standard tests is necessary.
Frequently, the first test ordered when a genetic condition is
suspected is a karyotype. Karyotype is considered a basic genetic
test, giving information such as number, pairing, and structure of
chromosomes. A blood sample is taken from the newborn,
approximately 3 to 5 mL commonly. Like all genetic tests,
specialized equipment and highly trained personnel are needed to
process the tests; karyotype testing is usually sent to a referral
laboratory. Once at the laboratory, the blood sample is prepared
for examination by inducing cell division to harvest the DNA. The
chromosomes from the DNA are then dried and stained to
visualize the number and characteristics of the chromosomes.3,12
Extended banding chromosome studies are quite similar in
preparation to karyotype testing. The difference is in the
higher resolution used to visualize the chromosomes than
used in karyoptying. The high resolution can detect more
subtle differences in configuration, including microdeletions
and small band insertions. Extended banding chromosome
studies can detect a much greater number of bands; therefore,
more areas of potential alterations in chromosomes are visible.
This testing can be quite useful in identifying genetic
conditions that have less pronounced expression or when
more detail is needed.13
Fluorescence in situ hybridization studies are another layer
of genetic testing used in newborn diagnosis. Unlike extended
banding chromosome studies, FISH testing does not replace
karyotype tests. Rather, FISH tests are done in addition to
karyotype or extended banding tests for more specificity in
diagnosis. In FISH testing, a segment of DNA is altered to
appear fluorescent under a microscope; this is called a probe.
Probes are then introduced into the patient's prepared sample.
When viewed, chromosomes of the patient sample that are
different from the probe are flagged. Fluorescence in situ
hybridization testing can examine how many copies of a specific
chromosomal section and structurally abnormal chromosomes
are present.5,13
One of the more sophisticated genetic tests used for
newborns is chromosomal microarray analysis. This test
provides one of the most sensitive measures in the detection
of small changes to chromosomes. The technique is relatively
new and is beginning to have more use in the neonatal period.
A sample of the patient's blood, which has been fluorescently
enhanced, is placed on a specially prepared slide embedded
with DNA markers. After days of incubation, the slide is read
for the level of fluorescence detected. The microarray analysis
testing can detect subtle and substantial differences in the
chromosomal makeup of the neonate's blood.3,14
When a genetic condition is suspected, more than 1 genetic
test is often performed on the newborn. As described above,
each of these 4 common tests provides a different level of
sophistication and information about the patient's genetic
profile. The precision and interpretation needed for each test
results explains the reason that many genetic tests require 1–2
weeks to be resulted back. Generally, tests require 2–5 mL of
blood each, which, if done for more than 1 test, could pose a
significant loss of blood in some newborns.5 Once the results of
the genetic testing are available, contact with a genetic
consultant could be warranted.
Genetic Consultations
As the laboratory tests are ordered, a genetic consultation is also
ordered to gather the necessary information from the family and
health care team. The nurse caring for the infant prepares for the
first consultation and wonders about her role in this process.
The purpose of a genetic consultation is multifaceted, and
the timing of such referrals varies. In the neonatal setting,
genetic counselors are used as an expert when a genetic
condition is suspected. Counselors gather pertinent informa-
tion including a thorough family and prenatal history. When
laboratory tests results are available, this information is also
necessary for the counselor to get a full and accurate picture
of the patient. The counselor may wish to meet with the
parents several times to establish a relationship and to gain
more insight into potential genetic risks. Counselors com-
monly take a nondirective approach. Information is shared,
but the counselor is careful not to influence the family's
decision making. There is some discussion in the genetic
counseling literature regarding the appropriateness of con-
sultation during times of crisis, such as in a previously
unknown genetically affected newborn.15 This is one of the
time points where the continued relationship with the
neonatal nurse is invaluable.
As the direct care provider for the family over time, the
neonatal nurse is in the unique position to understand how
the family might respond to a genetic consultation and can
provide valuable insight for the healthcare team. Many times,
an early intervention with a genetic counselor provides
families with vital information, comforting, and further
resources during this difficult and uncertain time. Nurses
may also be able to suggest a genetic consultation when one
has not been ordered yet. Genetic consultations are
frequently missed or avoided when they could provide
benefit to the families and health care team. Nurses who
have an understanding of common signs and symptoms of
genetic conditions can alert physicians when a genetic
consultation could be useful. As with so many areas in
nursing, one of the most profound roles the neonatal nurse
has during this time is presence. Nurses can be present
during conversations with the family by the consultant and
neonatologist, providing a sense of consistency and support.
Questions and concerns will likely surface after the family
have a chance to digest the overwhelming information. The
neonatal nurse is well positioned to provide a comforting
and knowledgeable presence for these families in one of their
greatest times of need.
VOLUME 8, NUMBER 1, MARCH 2008
Prenatal Screening, Testing, and Challenges
A pregnant woman refuses blood and ultrasound testing,
stating that she would never do anything to jeopardize her
infant 's health, so therefore, she does not need to participate in
screening. The question now becomes how to support
this mother.
In this era of expanding information and complex genomics,
there is an educational imperative to better understand and
communicate risk to clients as they undergo genetic screening.
Genetic testing is no longer an uncommon event used to test a
few women for rare conditions; it has evolved into a widespread
way for every woman to look for a variety of common
conditions and to the future of possible birth outcomes.7
Understanding the principles of risk, risk assessment and the
differentiation of screening, testing, and diagnosing are critical
elements for nurses in neonatal and perinatal care. They must
use their expertise to support families along the road of prenatal
care regardless of the outcome. Prenatal risk assessment begins
with an in-depth review of family and pregnancy history.
Questions such as “Have there been issues or problems with
previous pregnancies?” and “Are there any blood relatives with
birth defects or known genetic conditions?” are an important
part of the assessment and may be overlooked. Careful history
taking is a skill that is worth the investment of time and effort;
Web-based tools can be useful to help nurses develop the skill in
history taking.16 When genetic information contributes to
knowledge of risk for future inheritable disease or genetic
condition in family members, many complex issues arise.17
National recommendations for preconception care include
ongoing risk assessment and risk factor modification through-
out the reproductive years.18 There are, however, groups of
common birth defects, such as neural tube defects and some
chromosomal abnormalities that occur most often in families
without identified risk factors.19 There is a critical need for
nursing research to devise better approaches to interpreting and
educating families about risk assessment, risk reduction, and
recognizing the impact of this information on family dynamics
and decision making.
Screening is an important component of public health,
whereby a population is screened to identify those who have
increased risk for a particular disease or condition. Further
assessment and more sensitive diagnostic testing are then
conducted on those who are found to have a positive screen.
This approach narrows the focus and is usually considered to be
a cost-effective way to limit expensive or risk-inducing
procedures, with the ultimate goal to prevent or treat identified
illness. In the case of prenatal screening, unlike other health
screening, there is limited opportunity to treat the fetus; rather,
families are left with decisions about whether and how to
maintain the pregnancy. Serious ethical issues and patient
support needs surround the prenatal screening process. Over
time, prenatal genetic screening has become a routine part of
obstetrical practice in this country. The combination of
screening with definitive testing make up the approach offered
to most women in the United States and has been standard of
care in Europe.3
39
 The most common prenatal screening tests are conducted
by obtaining maternal serum and by ultrasound. The α-
fetoprotein (AFP) is a mass-screening test that identifies levels
of a specific fetal protein that crosses the placenta into the
maternal blood stream and, if elevated at a specific time in the
second trimester (between 15 and 20 weeks of gestation),
indicates increased risk of structural changes such as neural
tube defects. α-Fetoprotein is also used to predict risk of
Down syndrome and trisomy 18, both genetic abnormalities.19
This is referred to as the triple screen. If the AFP screen is
positive, women are then offered follow-up with an ultrasound
and or amniocentesis, which comprise diagnostic testing. α-
Fetoprotein is nonspecific and used to screen for various
neural tube and gastrointestinal anomalies; however, in certain
settings, it can be used more specifically to test for congenital
nephrosis in certain geographic populations, for example, a
known association with persons of Finnish extraction.3
Additional tests of pregnancy hormones have been combined
with the AFP to develop more comprehensive screening
algorithms and are being disseminated as options for earlier
and more specific detection of Down syndrome (trisomy 21)
and other chromosomal abnormalities. Human chorionic
gonadotrophin, estriol, and pregnancy-associated plasma
protein A are markers now available to most women in the
first trimester of pregnancy.3,19
Ultrasound has emerged as a widely available, noninvasive
screen for use in low-risk women and as a more definitive test
(depending upon the skill level of sonographer and device and
the timing of the examination). Limitations of ultrasound as a
screening tool must be understood. Relying on ultrasound alone
for diagnosis is not recommended. For example, it is possible to
miss up to 50% of Down syndrome cases and small neural tube
defects.19 Nuchal translucency, a collection of fluid in the
subcutaneous tissue behind the neck of the fetus, is visible on
ultrasound and, when combined with risk assessment including
maternal age, can indicate increased risk for chromosome
abnormalities and some congenital heart defects. Women with a
positive screen for nuchal translucency are then offered
chorionic villus sampling if in the first trimester or amniocent-
esis in the mid second trimester to definitively diagnose
chromosomal abnormalities. Later ultrasounds are conducted
to assess for organ and other possible structural abnormalities20
(see Table 2).
Chorionic villus sampling and amniocentesis are each
invasive procedures that present with a set of risks to the
fetus and pregnancy. Chorionic villus sampling is the removal
of a small piece of uterine (placental) tissue via transcervical or
transabdominal routes. It is guided by ultrasound and is
considered to be safe; however, it is not without risk of fetal
loss (approximately 1% above baseline).3 Chorionic villus
sampling is offered early in the pregnancy, usually during the
10th–12th week. Amniocentesis involves needle aspiration of a
sample of amniotic fluid and carries about a 1-in-200 chance of
provoking a miscarriage. Infection, rH sensitization, and other
maternal complications are possible, although minimized with
improved techniques. Amniocentesis is not available until the
second trimester when the fluid volume is adequate, and the
number of fetal cells is high enough to warrant testing.
Without options for treatment of the conditions being tested
for, the question of whether to undergo amniocentesis or other
diagnostic testing results in a morally controversial decision for
the woman, her family, and her care providers. Improving
sensitivity, reducing false-positive rates, and making tests
available earlier in the pregnancy is clearly a goal. Supportive
nursing care for families facing difficult decisions and
procedural testing are paramount to optimizing this compli-
cated and often stressful time of the pregnancy.
Communication and Provider/Client Relationships
A 30-year-old primigravida is told to come in for testing after
the results of her triple screen came back positive. She calls her

Table 2. Overview of Prenatal Screening and Diagnostic Testing

Source/Timing Risk Screening Test Diagnostic Test
Family history pre conception Maternal age N35 y
Previous family history of chromosomal
abnormality
Maternal blood 15-20 wk AFP Repeat AFP (coupled with
amniocentesis or ultrasound)
Maternal blood, 1st trimester Pregnancy-associated plasma protein
Human chorionic gonadotrophin
Estriol
Inhibin A (some centers)
Ultrasound, 1st trimester Nuchal translucency
Down phenotype
Level II ultrasound (specialized operator), Neural tube defect (not all),
2nd trimester cardiac and major organ
structural assessment
Placental tissue 10–12 wk Chorionic villus sampling
Amniotic fluid 15–18 wk Amniocentesis

40 NEWBORN & INFANT NURSING REVIEWS

mother in tears. She is convinced that her infant will have
Down syndrome.
Open communication is essential to provide women with
the information needed to make critically informed decisions,
and yet, studies have demonstrated repeatedly that providers
fail to optimize the communication of prenatal and other
genetic screening processes. 21 Clinicians and patients
approach the screening process differently with fundamental
contrasts with regard to goals, purposes, and values.15 Patients
generally reflect on pregnancy as a life-transforming event,
with hope and promise for the future. Clinicians, on the other
hand, routinely work with abnormal screening results and
may view a positive screen as a good thing, adding valuable
information to the technical aspect of predicting and
controlling disease. The cognitive decision making processes
for women and their support systems vary dramatically.22
Accepting or consenting to prenatal diagnostic testing is a
major decision point that future parents must address as part
of prenatal screening; the resultant anxiety and emotional
turmoil over future decisions may not be fully recognized in a
busy clinic setting or by family and friends, nor shared equally
among partners.23 Anderson22 developed a conceptual model
of decision-making that diverts the focus from profession-
centered to patient-centered genetic counseling. She studied
couples deciding whether to undergo prenatal genetic testing
and found them to have varied styles of thinking about their
values, the risks and benefits associated with genetic
information. It is clear that the relationship between provider
and client will dramatically influence the communication of
critically important information.
As the ability to test for increasing numbers of complex
genetic conditions and variations expands, the issues of
association between screening, testing, and how best to support
those undergoing prenatal genetic testing will grow exponen-
tially. Scientific research is urgently needed to explore the
parameters of how genetic information should be shared and
used to guide best practices in prenatal testing. Nurse
researchers are best suited to explore aspects of genetic care
that include symptom management, physical care, and emo-
tional support of families. Furthermore, nurses are well
positioned to uncover key aspects of decision-making processes
to include obtaining genetic information and the mechanisms
used to convey such significant information. Through the
translation of these proposed research endeavors, neonatal
nurses would then obtain a greater understanding of parent
decision-making processes and how best to optimize profes-
sional support.
Conclusion
Many challenges lie ahead, but a commitment to harnessing
the power of genomics and developing clinically appropriate
strategies for its use will serve to enhance the future care of
pregnant women and improve the outcomes for neonates.
Optimal nursing care for neonates includes acquiring and
maintaining genetic eyes and demonstrating genetic compe-
tency. This article has discussed 3 distinct areas where genetic
VOLUME 8, NUMBER 1, MARCH 2008
care interfaces with neonatal care: genetic screening and testing
(pre and postnatal), physical newborn assessments, and genetic
counseling. In addition to expert assessment and advocacy;
active support and education is a crucial nursing contribution as
families experience rapidly expanding avenues of genetic
information. Neonatal nurses, in particular, have a responsibility
to provide current and competent care. We are among the only
health care providers who are present at every early encounter
with compromised newborns. The demands for genetic
competency will only grow in the coming years as advances in
genomic sciences continue. Genetics is no longer the future of
nursing; rather, it is now embedded in the daily practice of every
nurse and especially those caring for neonates and their families.
Acknowledgment
The authors would like to acknowledge the inspiration and
collaboration of our colleague, Pamela Holtzclaw Williams, JD,
RN, MS and the critical oversight of Pamela H. Mitchell, PhD,
RN, FAAN.
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