339
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
PARENT OR GUARDIAN KNOWLEDGE OF BIOLOGICAL NEWBORN
SCREENING
Rafael Dias Cordeiro1
Fernanda Santos Landim2
Viviane Ferreira Lima3
Maria Luisa Cardoso Oliveira4
Fernanda Moreira Fagundes Veloso5
Abstract: The objective of this study was to analyze the level of knowledge of parents or guardians
about the biological newborn screening test. An integrative literature review study was conducted
using the secondary databases Virtual Health Library, Latin American and Caribbean Health Sciences
Literature, Scientic Electronic Library Online and Online System for Search and Analysis of Medical
Literature based on the specic descriptors retrieved in the Health Sciences Descriptors. In general, it
was identied that parents or guardians have limited knowledge about biological newborn screening,
restricting themselves to some diseases, resulting in delays or risk of not performing the exam, also
causing risks to the child’s health. Eorts are needed from health professionals so that, throughout the
prenatal period, pregnant women and family members are exposed to up-to-date and evidence-based
information about the test, both in clinical consultations and in systematic health education actions in
collective groups and also in the waiting room and other spaces of the unit and territory.
Keywords: newborn screening; knowledge; triage.
1 FIPMOC University Center (UNIFIPMOC)
2 University Center of the North of Minas (Funorte)
3 University Center of the North of Minas (Funorte)
4 University Center of the North of Minas (Funorte)
5 FIPMOC University Center (UNIFIPMOC)
340
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
INTRODUCTION
Currently, the Neonatal Screening Program of Minas Gerais enables the Unied Health Sys-
tem to screen for six diseases through the biological neonatal screening test, they are: Sickle Cell
Anemia and other Hemoglobinopathies, Biotinidase Enzyme Deciency, Phenylketonuria, Cystic Fi-
brosis, Congenital Adrenal Hyperplasia and Congenital Hypothyroidism (Brasil, 2016). An increase
made in May 2021, ratied by Law 14,154, raised to 50 the number of diseases and conditions to be
screened by this test in the Unied Health System (Brazilian Society of Pediatrics, 2019).
The expansion of the test brings positive outcomes to society in the sense of providing a gre-
ater perspective on the knowledge of these diseases. However, for its eectiveness, it must continue
to achieve high coverage rates and must improve its implementation in some regions of the national
territory that have limited infrastructure (Bomm et al., 2022; Perígolo et al., 2022).
The Guthrie test, popularly known as the heel prick test, is part of the National Neonatal
Screening Program and has a preventive character, whose main purpose is to investigate metabolic
and genetic diseases that may be asymptomatic in the early days of the newborn’s life. The diseases
screened by the exam have eective treatment, but some of them, when not identied and treated
early, can lead to mental retardation or even death. Thus, early diagnosis directly interferes with the
prognosis and improvement of the quality of life of aected individuals (Carvalho et al., 2020).
However, despite the impact on neonatal health, the lack of information from parents, fa-
mily members and health professionals due to the lack of understanding of the importance of the test
compromises the eectiveness of biological neonatal screening. In addition, the lack of preparation
of the health team and the lack of dissemination about the test in the main media with easy access to
the population by the competent bodies, hinders the success of the program (Vasconcelos et al., 2021).
It should be added that the moment in which this information is oered can inuence the way the
family understands the subject, being more eective when provided throughout pregnancy, in order
to produce maternal health literacy (Carvalho et al., 2020).
341
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
Maternal health literacy can be dened as the incorporation of cognitive and social skills re-
quired to enable pregnant women to access, understand, analyze and use the information necessary to
preserve and improve their health conditions. The World Health Organization suggests health literacy
and the empowerment of pregnant women as two key components of maternal health improvement
programs. In this sense, providing pregnant women with education and training in various scenarios
is a signicant point for their empowerment, success, and well-being (Döndü et al., 2021).
In this context, important sources of information for pregnant and puerperal women about
biological neonatal screening are the community and the media, in view of the attributes of primary
health care, especially community orientation. A signicant strategy is to carry out health education
in the community spaces available in the area covered by the UBS so that information about the test
is disseminated and increases the community’s exposure to it. When pregnant and postpartum wo-
men do not have access to adequate knowledge, the hunch of laypeople can make them vulnerable
and inuence the decision-making process (Silva et al., 2021). There is a need for further studies on
the subject in order to improve care, expand care measures, and improve the scope of public policies
(Miranda et al., 2020). Thus, the present study sought to analyze the level of knowledge of parents or
guardians about the biological newborn screening test.
MATERIALS AND METHODS
An integrative literature review was conducted. This approach was adopted because it allows
the combination of data from investigative and theoretical research that can thus be directed to con-
ceptualizations, registration of gaps in the areas of investigation, theoretical review and methodologi-
cal analysis of studies on a specic subject, allowing the analysis of the literature (SOUZA; SILVA;
CARVALHO, 2010).
In this sense, six interdependent and interrelated phases were considered: elaboration of the
guiding question, search or sampling in the literature, data collection, critical analysis of the included
342
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
studies, discussion of the results and presentation of the integrative review. How the guiding question
was dened: What is the level of knowledge of the country or guardians about the biological newborn
screening test? (SOUZA; SILVA; CARVALHO, 2010).
Studies were collected through an electronic search in the following databases available
in the Virtual Health Library (VHL), Latin American and Caribbean Literature on Health Sciences
(LILACS), the Scientic Electronic Library Online (Scielo) and the Analysis of Medical Literature
(MEDLINE).
The inclusion criteria included complete articles available electronically, in Portuguese, En-
glish or Spanish and that presented the theme proposed in the title, abstract or descriptors. Regarding
the eligibility criteria, letters to the editor, editorials, duplicate articles, and those that did not unequi-
vocally address the theme under study were considered.
The survey of studies was conducted during the months of May to August 2024. As research
strategies, the Health Sciences Descriptors (DECs) were used, retrieved through the website: https://
decs.bvsalud.org/, which were neonatal screening, knowledge and screening, for the renement of the
search and better selection of data for analysis, the Boolean and Boolean was used to combine the
selected descriptors.
For data collection, an instrument validated by Ursi (2005) for integrative reviews was de-
veloped, covering the following categories of analysis: identication code, title of the publication,
author and author’s education, source, year of publication, type of study, region in which the research
was carried out and the database in which the article was published. After selecting the articles, the
information that would be extracted from the studies was dened. To enable the apprehension of the
information, a database developed in the Microsoft Oce Excel 2010 software was used, composed
of the following variables: title of the article, year of publication, study design, and main outcomes.
The data obtained were grouped in a table and in thematic approaches and interpreted according to
specic literature.
Parents’ knowledge about newborn
screening
Cross-sectional study with qualitative
and quantitative approach
The results also showed that 100% of parents. They
claim to recognize the importance of performing
neonatal screening, but do not understand how
the test is performed and which diseases can be
screened.
Neonatal screening: maternal
knowledge in a maternity hospital in
the interior of Paraná, Brazil
This is a descriptive, cross-sectional
study of character quantitative
The purpose of neonatal screening was known
by 65% (n = 26) of the participants, and it was
observed that most knew the purpose and knew
about the importance of performance of the “heel
prick test”, a fact that denotes the importance of
the guidelines that must be dispensed.
Analysis of parents’ understanding of
the Guthrie Test
Descriptive and cross-sectional study Most participants. I did not have a good
understanding of the importance of the test as a
resource to promote prevention in child health.
Guthrie test: perception of pregnant
women in prenatal guidance
This is an exploratory-descriptive,
cross-sectional study with a
quantitative approach
75% of the pregnant women did not know how to
report which pathologies were screened, 16.3%
mentioned that the diseases detected by the
Guthrie Test have a genetic etiology, 82% see the
need for more information about the Guthrie Test,
60% refer to the need to focus on which diseases
were diagnosed
Knowledge about neonatal screening:
discourses of mothers and fathers of
newborns
This is a descriptive, qualitative
study
Mothers and fathers understand the purpose of
the heel prick test, had access to knowledge about
neonatal screening, evidencing potentialities
in the learning process and health education,
through various sources, with emphasis on the
professional performance of nurses in prenatal
care and weaknesses regarding diseases detected
in screening
343
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
FINDINGS
Initially, 20 studies were identied in the databases when the descriptors were combined,
after the systematic reading of the titles and abstracts, duplicate studies (nº4) and 4 studies were exclu-
ded because they were not related to the central theme of the present research, thus, the nal sample
was 12 articles. The following table delimits the title, design, and main outcomes of the studies analy-
zed in the nal composition of the present study (Chart 1).
Table 1. Studies included in the integrative literature review.
Parents’ knowledge about newborn
screening
Cross-sectional study with qualitative
and quantitative approach
The results also showed that 100% of parents. They
claim to recognize the importance of performing
neonatal screening, but do not understand how
the test is performed and which diseases can be
screened.
Neonatal screening: maternal
knowledge in a maternity hospital in
the interior of Paraná, Brazil
This is a descriptive, cross-sectional
study of character quantitative
The purpose of neonatal screening was known
by 65% (n = 26) of the participants, and it was
observed that most knew the purpose and knew
about the importance of performance of the “heel
prick test”, a fact that denotes the importance of
the guidelines that must be dispensed.
Analysis of parents’ understanding of
the Guthrie Test
Descriptive and cross-sectional study Most participants. I did not have a good
understanding of the importance of the test as a
resource to promote prevention in child health.
Guthrie test: perception of pregnant
women in prenatal guidance
This is an exploratory-descriptive,
cross-sectional study with a
quantitative approach
75% of the pregnant women did not know how to
report which pathologies were screened, 16.3%
mentioned that the diseases detected by the
Guthrie Test have a genetic etiology, 82% see the
need for more information about the Guthrie Test,
60% refer to the need to focus on which diseases
were diagnosed
Knowledge about neonatal screening:
discourses of mothers and fathers of
newborns
This is a descriptive, qualitative
study
Mothers and fathers understand the purpose of
the heel prick test, had access to knowledge about
neonatal screening, evidencing potentialities
in the learning process and health education,
through various sources, with emphasis on the
professional performance of nurses in prenatal
care and weaknesses regarding diseases detected
in screening
344
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
Guthrie Test: evaluation of knowledge
and importance for health
Cross-sectional observational
research
Most of the interviewees had some information
about the Guthrie Test. However, it was observed
that a signicant portion of pregnant and puerperal
women did not know its importance and, on
average, 52% of them did not receive it
Information about prenatal testing
Knowledge of puerperal women
about neonatal screening
A descriptive study with a
quantitative approach
The results indicate a low understanding of the
puerperal women regarding the importance of
screening, despite the fact that most of them
are aware of the performance of the test in their
children; They did not know the ideal age to
perform the screening and received information
from nurses about the test at the time of hospital
discharge.
What do mothers know about
biological newborn screening?
This is a descriptive-exploratory
study
The results showed little or no knowledge of the
interviewed postpartum women about the theme,
demonstrated through
Testimonials acquired in the interview
Parents’ knowledge about neonatal
screening, contribution of the Portal
dos Bebés - Guthrie Test website
Descriptive study Although the mothers interviewed knew that their
children have the right to take the test, they did
not demonstrate knowledge about the diseases
that can be prevented, the time of diagnosis, the
sequelae arising from the lack of diagnosis and
early treatment
Knowledge of puerperal women
about the heel prick test
Descriptive and exploratory study Of the 75 puerperal women, 47 (62.7%) would like
to receive further clarication about the heel prick
test, with emphasis on the appropriate collection
period, followed by the screened diseases. Most
participants (n=55; 85.9%) took their child for the
test between the third and seventh day of life, as
recommended by the Ministry of Health. Of the
puerperal women, 54 (72%) were unable to name
which diseases were screened by the heel prick test
in Minas Gerais, nor did they know that most of
them have a genetic etiology.
Mothers’ knowledge about the heel
prick test in a basic health unit
The research is descriptive,
quantitative in nature
The results indicate that women’s knowledge is
supercial. The importance of the nurse’s role in
health education is highlighted.
Guthrie test: unveiling mothers’
knowledge about the test
This is a descriptive, exploratory
study with a qualitative approach
It was evidenced that only 3% of the deponents
received guidance
considered complete, 62% received guidance
classied as incomplete.
345
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
Source: study data.
DISCUSSION
In this study, the level of knowledge of parents or guardians about the biological neonatal
screening test was evaluated, in general, it was identied that parents or guardians have limited know-
ledge about biological neonatal screening, being restricted to some diseases, resulting in delays or risk
of not performing the exam, also entailing risks to the child’s health.
The knowledge of fathers and mothers about the need to perform the Guthrie Test is a pre-
ventive action, “with solid knowledge on the subject, mothers will contribute to the eectiveness of
neonatal screening” (Arduini et al., 2017), and “will be protecting their children from diseases that
can aggressively aect health or even lead to death” (Gomes et al., 2019). The promotion of this
knowledge can go beyond prenatal information, in a continuous way in the hospital environment and
complemented through the media. Strategies that disseminate knowledge about Neonatal Screening
can have a positive impact on the family’s knowledge, empowering parents to care for the baby (Go-
mes et al., 2019).
It is believed that the information is not oered satisfactorily to mothers at the time the
newborn screening test is being performed, or sometimes it does not happen at all, since the postpar-
tum women have not appropriated the essence of biological newborn screening (Vasconcelos et al.,
2021).
In a study conducted in a state in northeastern Brazil with parents and guardians of newbor-
ns, traditional knowledge about the test (Brazil et al., 2016; Gomes et al., 2019). Another study, car-
ried out with mothers of newborns who underwent the test, showed that they had a perception of the
relevance of the test, however, they reported that they were not properly informed about the purpose
of the test (Vasconcelos et al., 2021). Thus, supercial knowledge about biological neonatal screening
may be associated with the instruction received, which often corresponds only to the need to perform
346
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
the test, without detailing the phases involved in the process, the advantages and outcomes if it is not
performed (Carvalho et al., 2020).
A study demonstrates the fragility of the information on Neonatal Screening provided to
mothers in prenatal care, as only 50% of the mothers in this study received guidance on the Guthrie
Test, and 75% did not know how to report on diseases screened by the test (Silva et al., 2017). Research
carried out in a public maternity hospital corroborates the study, as it identied that 89% of the mo-
thers who answered the proposed questionnaire were unable to indicate the purpose of the heel prick
test and 30% did not know the test collection period (Mendes et al., 2017). This lack of information
makes us reect on whether this is the reason why mothers do not take their children to undergo the
test, or go outside the recommended period (Miranda et al., 2020).
The diseases that are screened from the exam, because they are less frequent, may be little
known, so there is a need for guidance on the signs and symptoms and lethality among the population
(Takemoto et al., 2020). Thus, in prenatal care, it is essential to clarify and guide pregnant women
and their families on how and in which place to perform the test, according to the collection network
available in the family’s state of residence, indicating the need for collection to be carried out by the
5th day of the newborn’s life (Brasil, 2016).
Another study points out that the lack of information and supercial knowledge of parents
about the Guthrie Test is notorious, that postpartum women would like to receive more information
about the collection period and the diseases screened (Miranda et al., 2020; Silva et al., 2017). These
ndings are in agreement with a study carried out in Primary Care “in a municipality in the interior
of Minas Gerais, which reports that 63% of puerperal women would like to receive more clarication
about the heel prick test, such as the appropriate collection period and the diseases screened” (Arduini
et al., 2017).
Another study carried out in the state of Bahia, with 18 mothers and two fathers, identied
that “mothers and fathers had an understanding of the Guthrie Test, information acquired in actions
during the prenatal period, through the waiting room and a group of pregnant women, continued in
347
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
hospital care, as well as provided by neighbors and the media” (Gomes et al., 2019). A study carried
out in Minas Gerais identied that 57% of postpartum women received guidance on the test at prena-
tal consultations and 43% at hospital discharge (Arduini et al., 2017).
Consequently, in many cases, parents are faced with professionals immersed in the routine
of services and in the execution of technical procedures that are absent from humanization and the
educational dimension of care (Pedrosa et al., 2021). In addition, it is pertinent to use soft care tech-
nologies, which make use of intersubjective processes, such as therapeutic listening and therapeutic
communication, which allow the focus of care to be the person and not the disease.
CONCLUSION
The level of knowledge of parents or guardians about biological neonatal screening, in ge-
neral, was limited, being restricted to some diseases, resulting in delays or risk of not performing
the test, also entailing risks to the child’s health. Eorts by health professionals are necessary so that
throughout the prenatal period, pregnant women and family members are exposed to up-to-date and
evidence-based information about the test, both in clinical consultations and in systematic health
education actions in collective groups and also in the waiting room and other spaces of the unit and
territory.
REFERENCES
BRAZIL. Ministry of Health. Biological neonatal screening: technical manual. Brasília: Ministry of
Health; 2016.
BOMFIM, V.V.B.S.; ARAÚJO, P.C. Treptow LM, Sousa EO, Sousa-Júnior CP, Cabral DFB, et al.
Neonatal screening for severe combined immunodeciency syndrome. Research, Society and Deve-
lopment. v.11, n.11, p.1-12, 2022.
348
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
CARVALHO, B.M et al. Early access to biological neonatal screening: articulation between actions
of child care programs. Rev latinoam enferm. v.28, n.1, p.e3266, 2020.
DÖNDÜ, S.G et al. Health literacy and knowledge of antenatal care among pregnant women. Health
Soc Care Community. v.29, n.6, p.1815-1823, 2021.
GOMES, A.P.S et al. Knowledge about neonatal screening: discourses of mothers and fathers of
newborns. REVISE. v.8, n.3, p.255-263, 2019.
PERÍGOLO, L.B.T et al. The expansion of the heel prick test in Brazil and its implications for neo-
natal screening, detection of rare diseases and congenital abnormalities. Electronic Journal Medical
Collection. v.16, n.1, p.1-6, 2022.
PEDROSA, J.I.S. The National Policy of Popular Education in Health in debate: (re)cognizing know-
ledge and struggles for the production of Collective Health. Interface (Botucatu). v.25, n.1, p.e200190,
2021.
MIRANDA, K.S. et al. Barriers experienced by nurses in performing the heel prick test: an integra-
tive review. RAS. v.18, n.1, p.237-46, 2020.
VASCONCELOS, M.N et al. Perception of mothers of children submitted to the Guthrie Test in Basic
Health Units. Rev APS. v.8363, n.2, p.311-320, 2021.
SILVA, A.B et al. Educational actions as an intervention strategy in pregnant women’s attitudes
towards breastfeeding. Sick Focus. v.12, n.5, p.880-886, 2021.
BRAZILIAN SOCIETY OF PEDIATRICS. Extended heel prick test should be oered in the SUS.
São Paulo: SBP; 2019. Available at: https://www.sbp.com.br/imprensa/detalhe/nid/teste-do-pezinho-
-ampliado-deve-ser-oferecido-no-sus-arma-presidente-de-dc/
TAKEMOTO, A.Y. et al. REPENF – Guthrie Test: knowledge of puerperal women. Rev. Paraná.
Enferm. v.3, n.1, p.30-37, 2020.
Gomes APS, Sousa AR, Passos NCR, Santana TS, Rosário CR. Knowledge about neonatal screening:
discourses of mothers and fathers of newborns. REVISA [Internet]. 2019 [accessed on 2021 April 17];
349
ISSN: 2763-5724 / Vol. 04 - n 04 - ano 2024
8(3): 255-63.
Arduini GAO, Balarin MAS, Silva-Grecco RL, Mequi ABT. Knowledge of the puerperal women
about the heel prick test. Rev Paul Pediatr. [Internet]. 2017 [accessed on 2022 Feb. 18]; 35(2): 151-157.
Mendes CA, Guigen AP, Anastácio-Pessan FL, Dutka JCR, Lamônica DAC. Parents’ knowledge
about neonatal screening, contribution of the website Portal do Bebés – Guthrie Test. Rev CEFAC
[Internet]. 2017 [accessed on 2022 Feb. 18]; 19(4):475-483.
Miranda KS, Santos IC, Almeida Neto OP, Calegari T. Barriers experienced by nurses in performing
the heel prick test: an integrative review. RAS [internet]. 2020 [accessed on 2021 April 10]; 18: 237-
246.
Silva MPC, Contim D, Ferreira LA, Marqui ABT. Guthrie test: perception of pregnant women in
prenatal guidance. Rev Bras Saúde Mater Infant [Internet]. 2017 [accessed on 2021 Mar. 28]; 17(2):
299-305.
