Astrero, Kristle Jeian V. Ms.

Beverly Cadiente, RMT

BMLS 1A, 5070 March 24, 2022

ACTIVITY VIII: REPUBLIC ACT NO. 9288 - NEWBORN SCREENING ACT OF 2004

 Newborn screening has been popularly known as INFANT’S SCREENING or

NEONATAL SCREENING.
 REPUBLIC ACT NO. 9288 or the NEWBORN SCREENING ACT OF 2004 was
enacted and implemented.
 PURPOSE: to identify the manifestation of genetic disorders or conditions so that the
propt attention can give to affected newborns.

PRINCIPLES AND RATIONALE OF NEWBORN SCREENING PROCEDURE

 Newborn screening procedure was created to help parents detect genetic

abnormalities and disorders.
 The newborn screening test is non-diagnostic because a series of follow-up
procedures should be made to verify abnormal results.
 The newborn (2 weeks after birth) is usually subject to laboratory examination.
 Both urine and blood samples are collected, and a series of laboratory tests are
performed including: ferric chloride, sodium nitroprusside clinitest, and Githrie tests

 HEARING SCREENING
o A non – painful procedure in which a baby is screened for any incidence of
hearing loss not later than 1 month of age.
 SCREENING FOR CRITICAL CONGENITAL HEART DEFECTS
o Done using oximetry on the baby’s hands and feet.
o It identifies infants with a critical congenital heart defect before they show signs
and symptoms of the condition.
o The entire procedure is painless and takes about 5 minutes
 CIRCUMCISION
o Newborn male babies may be circumcised at their parent’s request.
o Foreskin is surgically removed, leaving the tip of the penis ucovered
o ADVANTAGE: lower risks for urinary tract infection, prostate cancer, and
acquiring sexually transmitted disease.
 COMPREHENSIVE SCREENING TEST FOR JAUNDICE
o Tested for the presence of jaundice shortly after birth.
o Guthrie test
Astrero, Kristle Jeian V. Ms. Beverly Cadiente, RMT
BMLS 1A, 5070 March 24, 2022
o Monitor is placed on the newborn’s forehead for a few seconds.
o Accurate, safe, and painless
o SERUM BILIRUBIN DETERMINATION is performed when the result is high

RATIONALE OF NEWBORN SCREENING PROCEDURE

 All newborn babies are screened, even if they may look healthy since some clinical
conditions are asymptomatic
 FACTORS :
o an understanding of the newborn condition’s history
o an acceptable treatment protocol that changes the outcome for patients diagnosed
early with the disease
o an understanding of who will be treated as a patient

CLINICAL CONDITIONS SCREENED

 HEMOGLOBINOPATHIES
o A condition associated with abnormal heme synthesis, hemoglobin variants, and
globin synthesis.
o PORPHYRIAS – characterized by a defect in one or more enzymes involved in
heme synthesis resulting in the accumulation of porphyrin in the bone marrow or
the liver.
o SICK CELL DISEASE – characterized by the presence of hemoglobin S in a
homozygous state while SICKLE CELL TRAIT is characterized by the
presence of hemoglobin S in heterozygous state. SICKLE CELL ANEMIA is a
clinical condition in which erythrocytes become rigid and trapped in capillaries
o HEMOGLOBIN C DISEASE – having an amino acid substitution lysine for
glutamic acid on the sixth position of the beta chain.
o HEMOGLOBIN SC DISEASE – double heterozygous condition in which an
abnormal S gene from one parent is inherited and an abnormal C gene for another
parent is also inherited.
o HEMOGLOBIN D DISEASE – characterized by having amino acid substitution
glutamine at the 121st position of the beta chain while HEMOGLOBIN E
DISEASE is characterized by an amino acid substitution lysine at 26th position of
the beta chain and may cause mild anemia with the presence of microcytes and
target cells.
o HEMOGLOBIN CONSTANT SPRING – having 31 amino acids added to
alpha chain and may be caused by a replacement of a terminator codon with a
Astrero, Kristle Jeian V. Ms. Beverly Cadiente, RMT
BMLS 1A, 5070 March 24, 2022
codon for glutamine resulting in addition of 31 amino acids before a s top codon
is reached. It clinically resembles alpha thalassemia
o THALASSEMIA – clinical condition whose predominant cause is gene deletion.
The inheritance of thalassemia follows the Mendelian Principle.
 ENDOCRINOPATHIES
o The most common endocrine disorders including:
o CONGENITAL HYPOTHYROIDISM – characterized by the absence or poor
functioning of the thyroid gland, resulting in the reduced production of thyroxine.
o CLASSIC ADRENAL HYPERPLASIA – characterized by a deficiency of the
enzyme steroid 21-hydroxylase which comes in two forms, SIMPLE
VIRILIZING and SALT-WASTING
 AMINO ACID DISORDERS
o The most common form of amino acid disorder is PHENYLKETONURIA.
o This is an inherited autosomal recessive disorder characterized by a deficiency in
phenylalanine hydroxylase.
 FATTY ACID OXIDATION DISORDERS
o One of the most recently discovered disorders is medium chain acyl-CoA
dehydrogenase deficiency.
o It is a life threatening an classified as a fatty acid oxidation disorder.
o The patient may experience muscle problems, poor feeding, vomiting, and
seizure. The disease is often fatal.
 CYSTIC FIBROSIS
o Considered as an autosomal recessive disorder which is characterized by a thick
mucus in the lungs and digestive system resulting in respiratory infection and
difficulty in food digestion.

PROVISIONS OF R.A 9288

 It was enacted and declared as the newborn screening act of 2004

 It mandates the newborn screening procedure as it is a national policy in favor of the
child’s health.
 Consist of 5 articles including general and final provisions

LABORATORY PROCEDURES

 Require collection of samples within 24 hrs as mandated

Astrero, Kristle Jeian V. Ms. Beverly Cadiente, RMT
BMLS 1A, 5070 March 24, 2022

STEPS IN SAMPLE COLLECTION

1. Properly document all information about the baby and his or her family.
2. Ensure the complete identification of the baby
3. Collect the blood sample within 24-72 hours. Capillary puncture is the preferred
technique.
4. Cleanse the baby’s heel with an alcohol with a cotton swab. Air dry the heel before
puncturing.
a. Prick the heel and wipe the first drop of blood
5. Wait for spontaneous flow of blood

FURTHER SCREENING REQUIREMENTS

1. Infants who commenced total parenteral nutrition

2. Infants receiving palliative care
3. Infants receiving blood products including blood/exchange transfusions, platelets, and
fresh frozen plasma
4. Infants born after in-utero blood transfusion
5. Extremely low birth weight or premature infants