Romina B.

Briones, RMT
 NBSP was created to help parents detect genetic
abnormalities and disorders.
 Non –diagnostics since series of follow procedures should be
made to verify abnormal results.
 To detect inborn metabolism disorder.
 Other screening tested:
 Hearing Screening
 Cogenital Heart Defects
 Circumcision
 Comprehensive screening test for Jaundice – Guthrie test
 Mandated by Law to be done in-order to detect early inborn
genetic or metabolic disorders which may manifest later in life.
 No screening done to babies with innate serious problem
would lead to mental disorder, organ damage or any serious
type of disease.
 In making decisions for NBSP take the following into
considerations:
 Take the newborn condition’s natural history
 An acceptable treatment protocol that changes the outcome for
patients diagnosed early with the disease.
 An understanding of who will be treated as a patient
 HEMOGLOBINOPATHIES- condition with abnormal heme
synthesis, haemoglobin variants, and globin synthesis
 Porphyrias – defect in one of the enzymes involved in heme
synthesis resulting in accumulation of porphyrins in bone marrow
(erythropoietic porphyrias) or in the liver (heaptic porphyrias).
 Sickle Cell disease- homozygous state
 Sickle Cell Trait – heterozygous state
 Sickle Cell Anemia – rbc rigid and trapped in capillaries= Lack of O2
 Hemoglobin C disease- AA substitution lysine for glutamic acid on
the 6th position of the beta chain
 RBC – appear as target cells
 Hemoglobin SC disease- heterozygous condition where abnormal S
gene and C gene were inherited from both parents
 HEMOGLOBINOPATHIES- condition with abnormal heme
synthesis, haemoglobin variants, and globin synthesis
 Hemoglobin D disease- AA substitution glutamine at the 121st
position of the beta chain
 Hemoglobin constant spring – 31 AA added to the alpha chain
caused by the replacement of a terminator codon, resembles alpha
thalassemia
 Thalassemia – clinical condition caused by gene deletion.
 ENDOCRINOPATHIES
 Congenital hypothyroidism – absence or poor functioning of the
thyroid gland resulting in the reduced production of thyroxine (
increased TSH) which later may cause sever intellectual disabilities
and growth problems.
 Classic Adrenal hyperplasia- deficiency of the enzyme steroid 21 -
hydroxylase
 AMINO ACID DISORDERS
 Phenylketonuria – deficiency in phenyalanine hydeoxylase which
may result in severe mental retardation
 Maple Syrup Urine disease
 Alkaptonuria
 Tyrosinuria/Tyrosinemia
 Cystinuria
 FATTY ACID OXIDATION DISORDERS- Patient experience
muscle problems, poor feeding, vomiting, seizure which often
fatal.
 Cystic Fibrosis- autosomal recessive disorder, thick mucus in
the lungs and digestive system lead to respiratory infection
and food indigestion.
 General Provisions of R.A. 9288
 Protecting and promoting the constitutional rights of the citizens
to good health thereby mandating the Filipinos to carry out the
NBSP as comprehensive, integrative and sustainable.
 Implemented in both government and private sectors including
hospitals and clinics.
 Consists of 5 articles
 Article 3: Information to parents/guardians availability of
NBS, perform NBSP within 24 hours and not later than 3
days after delivery, refusal for NBSP will be put into
writing, re- education and reptraining of healthcare
personnel and providers and licensing and accreditations
of hospitals.
 General Provisions of R.A. 9288
 Article 4: DOH will be the lead agency for the
implementation of this Act.
Group C
• Task 1
• Task 2 THANK YOU