SANGALANG, Cien Mary Nicole S.

NCM 107 RLE: NICU

BSN II-02 September 13, 2022

RESEARCH

1. What are the detections of the Newborn Screening Test?

The Newborn Screening Test (NBST) is a procedure done to newborn neonates

that includes a series of specialized tests such as blood, hearing, and cardiac screening
performed on one (1) to two (2) day old infants prior to their discharge in the hospital.
The said screening test is able to look for severe medical conditions that do not show
signs at birth. More specifically, the test is simple, and can detect if the infant has
congenital disorder that can lead to mental retardation or can be fatal if not treated. If the
test is not done, the baby can develop a serious illness that can hinder him/her’s
development. Shown below are the usual tests for newborns with health conditions that
can be detected:

COMMON SCREENING TESTS FOR NEWBORNS

DISORDER DESCRIPTION HEALTH CONDITIONS

Metabolic issues It is difficult for newborns with ● Propionic acidemia

impairments of the organic acid (PROP)
metabolism to properly digest ● Methylmalonic
meals. Failure to have babies acidemia
screened for this could result in ● 3-Methylcrotnyl CoA
brain damage, respiratory issues, carboxylase
and developmental delays. deficiency
● Trifunctional protein
deficiency (TFP)

Hormonal issues These are relevant to the organs ● Congenital

that create hormones. When the hypothyroidism
glands either produce too many ● Congenital adrenal
or not enough hormones, hyperplasia
disorders result. If these
disorders are not identified and
addressed within two (2) weeks
of birth, they may result in
growth and developmental
concerns.

Hemoglobin issues These conditions impact the red ● Sickle cell disease
 blood cells that transport oxygen ● Hemoglobin SC
throughout the body. disease
● Beta Thalassemia

Other issues ● Cystic fibrosis

● Pompe disease
● Spinal muscle
atrophy (SMA)
● Galactosemia
Table #1. Common Screening Tests for Newborns

2. What are the conditions detected in the Expanded Newborn Screening Test?

According to Philippine Health (2019), the enhanced newborn screening test,

meanwhile, will have the ability to identify endocrine, amino, and fatty acid
abnormalities as well as organic acid, urea cycle defect, cystic fibrosis,
hemoglobinopathies, biotinidase deficiency, and other illnesses. At birth, the majority of
infants with metabolic abnormalities appear "normal." Metabolic diseases may be
identified by ENBS even before they exhibit clinical signs and symptoms. As a result,
treatment can be started right away to avoid the negative effects of untreated illnesses.
(Institute of Human Genetics, 2020). With this, the table below shows the possible
detections detected in the Expanded Newborn Screening Test:

EXPANDED SCREENING TEST DETECTIONS

DISORDER EFFECT IF EFFECT IF SCREENED

NOT SCREENED AND MANAGED

Organic acid disorders ● Developmental delay ● Alive

● Breathing problems ● Most have normal
● Neurologic damage development with
● Seizures episodes of metabolic
● Coma crisis
● Early fatality

Endocrine disorders ● Severe mental ● Normal

retardation ● Alive
● Fatality

Hemoglobinopathies ● Painful crises ● Alive

● Anemia ● Reduces frequency of
● Stroke painful crises
● Multi-organ failure ● Reduced need for
● Fatality blood transfusion
 Fatty acid oxidation ● Developmental and ● More likely to be
disorder physical delays healthy in between
● Neurologic episodes of metabolic
impairment crises
● Sudden death ● Alive
● Coma
● Seizure
● Enlargement of the
heart & liver
● Muscle weakness

Urea cycle defect ● Seizure ● Alive

● Mental retardation ● Normal intelligence
● Fatality

Amino acid disorders ● Mental retardation ● Alive

● Coma and death from ● Normal growth
metabolic crisis ● Normal intelligence
for some, learning
problems to others
Table #2. Expanded Screening Test Detections

REFERENCES

University of the Philippines Manila. (2020, January). Newborn screening center - NIH. Institute
of Human Genetics. Retrieved on September 13, 2022, from,
https://ihg.upm.edu.ph/node/15

Makati Medical Center. (2020, October 7). Newborn screening: how can it benefit your baby?.
Makati Med. Retrieved on September 13, 2022, from,
https://www.makatimed.net.ph/blogs/newborn-screening-how-can-it-benefit-your-baby/

Philippine Health. (2019, January 11). Philhealth enhances benefit for infants, aims for healthier
babies. PhilHealth. Retrieved on September 13, 2022, from,
https://www.philhealth.gov.ph/news/2019/infant_benefit.php

SANGALANG, CIEN MARY NICOLE S.

BSN II-02