[21] MIDTERMS | NB SCREENING

Question 1

• An essential public health strategy that enables the early detection and management of several metabolic disorders.
• If left untreated, may lead to mental retardation and/or death.
• Early diagnosis & initiation of treatment, along w/ appropriate long-term care help ensure normal growth & development.

Answer 1

NEWBORN SCREENING PROGRAM (DOH)

Question 2

NEWBORN SCREENING PROGRAM (DOH)

• Goal: By year ____, all Filipino newborns are screened for the more common and life-threatening ____ disorders.

Answer 2

• Goal: By year 2025, all Filipino newborns are screened for the more common and life-threatening congenital metabolic disorders.

Question 3

NEWBORN SCREENING PROGRAM (DOH)

• Policies and Laws
  ____ - ____
  
  • Ensure that every baby born in the Philippines is offered the opportunity to undergo NBS -> eNBS to be spared from heritable conditions.

Answer 3

• Policies and Laws
  RA 9288 - Newborn Screening Act of 2004
  
  • Ensure that every baby born in the Philippines is offered the opportunity to undergo NBS -> eNBS to be spared from heritable conditions.

Question 4

NEWBORN SCREENING PROGRAM (DOH)

• Policies and Laws
  ____ – Guidelines on the Implementation of the ____ (2014)

Answer 4

• Policies and Laws
  DOH AO No. 2014-0045 – Guidelines on the Implementation of the Expanded Newborn Screening Program (2014)

Question 5

NEWBORN SCREENING

• Regular NBS - Used to detect ____ metabolic disorders
• eNBS (expanded Newborn Screening) - The expanded newborn screening program will increase the screening panel of disorders from ____ to ____. This will provide opportunities to significantly improve the quality of life of affected newborns through facilitating early diagnosis and early treatment.

Answer 5

• Regular NBS - Used to detect six (6) metabolic disorders
• eNBS (expanded Newborn Screening) - The expanded newborn screening program will increase the screening panel of disorders from six (6) to twenty-eight (28). This will provide opportunities to significantly improve the quality of life of affected newborns through facilitating early diagnosis and early treatment.

Question 6

6 METABOLIC DISORDERS

• Congenital H____
• Congenital A____
• P____
• M____
• G____
• G____

Answer 6

• Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia
• Phenylketonuria
• Maple Syrup Urine Disease (MSUD)
• Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency
• Galactosemia

Question 7

METABOLIC DISORDERS

• results from lack of thyroid hormone which are essential to growth of the brain and body
• physical growth is stunted and may then suffer mental retardation

Answer 7

CONGENITAL HYPOTHYROIDISM

Question 8

METABOLIC DISORDERS

• causes severe salt loss, dehydration and abnormally high levels of male sex hormones in both boys and girls
• if not detected and treated early, newborn with this disorder may die within 9 to 13 days

Answer 8

CONGENITAL ADRENAL HYPERPLASIA

Question 9

METABOLIC DISORDERS

• unable to process a certain part of milk sugar called galactose
• build up of too much galactose in the body can cause liver and brain damage
• Affected NB is treated by putting them on a special diet

Answer 9

GALACTOSEMIA

Question 10

GALACTOSEMIA

• Normally, ____ binds to galactose and converts it into glucose, which is then used for energy

Answer 10

• Normally, GALT binds to galactose and converts it into glucose, which is then used for energy

Question 11

GALACTOSEMIA

• ____ - also known as type I galactosemia, is the most common and most severed form of the condition
• ____ - deficiency of enzyme galactokinase and an autosomal recessive condition that is less severe or benign compared to classic type; early onset of cataracts can occur

Answer 11

• Classic Galactosemia - also known as type I galactosemia, is the most common and most severed form of the condition
• Non Classical Galactosemia - deficiency of enzyme galactokinase and an autosomal recessive condition that is less severe or benign compared to classic type; early onset of cataracts can occur

Question 12

GALACTOSEMIA

• (also called galactose epimerase deficiency) cause different patterns of signs and symptoms.
• The signs and symptoms vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

Answer 12

TYPE III GALACTOSEMIA

Question 13

METABOLIC DISORDERS

• rare condition in which the NB cannot properly use one of the building blocks of protein, called phenylalanine
• accumulates in the blood and causes brain damage; normal development can be prevented
• treatment is started early with a special diet

Answer 13

PHENYLKETONURIA

Question 14

METABOLIC DISORDERS

• leads to hemolytic anemia, yellow discoloration of the skin and other health problems
• may develop complications leading to mental retardation and even death

Answer 14

GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY

Question 15

METABOLIC DISORDERS

• an inherited metabolicdisorder in which the body is unable to process certain amino acids
• this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a build-up of these chemicals in the blood.

Answer 15

MAPLE SYRUP URINE DISEASE (MSUD)

Question 16

EXPANDED NEWBORN SCREENING

+ CONGENITAL DISORDERS

• C____
• B____
• O____
• F____
• A____
• U____
• H____

Answer 16

+ CONGENITAL DISORDERS

• Cystic Fibrosis
• Biotinidase Disease
• Organic Acid Disorders
• Fatty Acid Oxidation Disorders
• Amino Acid Disorders
• Urea Cycle Disorder
• Hemoglobin Disorders

Question 17

EXPANDED NEWBORN SCREENING

• hereditary disorder affecting the exocrine glands; production of abnormally thick mucus

Answer 17

CYSTIC FIBROSIS

Question 18

EXPANDED NEWBORN SCREENING

• unable to recycle the Vit. Biotin

Answer 18

BIOTINIDASE DISEASE

Question 19

EXPANDED NEWBORN SCREENING

• a genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule (e.g. sickle-cell disease).

Answer 19

HEMOGLOBINOPATHIES

Question 20

EXPANDED NEWBORN SCREENING

• is associated with a specific enzyme deficiency that causes the accumulation oforganic acidsin blood and urine.

Answer 20

ORGANIC ACID DISORDER

Question 21

EXPANDED NEWBORN SCREENING

• a geneticdisorderthat result from an inability of the body to produce or utilize one enzyme (Acyl-CoA) that is required tooxidize fatty acids.

Answer 21

FATTY ACID OXIDATION DISORDER

Question 22

EXPANDED NEWBORN SCREENING

• ____ -inherited in an autosomal recessive manner and affect both males and females. ASAL deficiency is one of a small number of conditions called ____. When the ASAL enzyme is not working, ammonia and other harmful substances build up in the blood and cause brain damage.

Answer 22

• Amino acid disorders -inherited in an autosomal recessive manner and affect both males and females. ASAL deficiency is one of a small number of conditions called “urea cycledisorders” (UCD). When the ASAL enzyme is not working, ammonia and other harmful substances build up in the blood and cause brain damage.

Question 23

NEWBORN SCREENING

• Ideally done on the ____ hr or at least after ____ hr of baby’s life.

Answer 23

• Ideally done on the 48th hr or at least after 24th hr of baby’s life.

Question 24

WHY IS IT IMPORTANT TO HAVE NEWBORN SCREENING?

• Most babies with metabolic disorders look “normal” at birth. By doing NBS, ____ may be detected even before clinical signs & symptoms are present. As a result of this, treatment can be given early to prevent consequences of untreated conditions

Answer 24

• Most babies with metabolic disorders look “normal” at birth. By doing NBS, metabolic disorders may be detected even before clinical signs & symptoms are present. As a result of this, treatment can be given early to prevent consequences of untreated conditions

Question 25

# **HOW MUCH IS THE FEE FOR NBS?** * ____ - DOH Advisory Committee on Newborn Screening has approved a maximum allowable fee of ____ for the collection of the sample. Newborn Screening is now included in the Philhealth Newborn Care Package. * Expanded NBS –____

Answer 25

* **P550.00** - DOH Advisory Committee on Newborn Screening has approved a maximum allowable fee of P50 for the collection of the sample. Newborn Screening is now included in the Philhealth Newborn Care Package. * Expanded NBS –**P1,750.00**

Question 26

# **BREAKDOWN OF NEWBORN CARE PACKAGE** **Package Rate**: Php2,950.00 **Components**: * **Supplies for Essential Newborn Care (ENC)** - ____ * **Professional Fee** - ____ * **ENBS** - ____ * **Newborn Hearing Screening Test (NHST)** - ____

Answer 26

**Package Rate**: Php2,950.00 **Components**: * Supplies for Essential Newborn Care (ENC) - **Php500.00** * Professional Fee - **Php500.00** * ENBS - **Php1,750.00** * Newborn Hearing Screening Test (NHST) - **Php200.00**

Question 27

# **HOW IS NBS DONE?** * A few drops of blood are taken from the baby's ____, blotted on a special ____ & then sent to Newborn Screening Center (NSC).

Answer 27

* A few drops of blood are taken from the **baby's heel**, blotted on a **special absorbent filter card** & then sent to Newborn Screening Center (NSC).

Question 28

# **NEWBORN SCREENING IN THE PHILIPPINES** * Nov 21, 2018 - NBS program has grew from one to ____ operational **Newborn Screening Centers (NSC)**; from **24 pilot hospitals** to ____ **Newborn Screening Facilities (NSFs)** as of November 15, 2018; from one to ____ **G6PD Confirmatory Centers**; and now with **14 continuity clinics** for the long term management of patients.

Answer 28

* Nov 21, 2018 - NBS program has grew from one to **six (6)** operational **Newborn Screening Centers (NSC)**; from **24 pilot hospitals** to **7062 Newborn Screening Facilities (NSFs)** as of November 15, 2018; from one to **twenty-six (26) G6PD Confirmatory Centers**; and now with **14 continuity clinics** for the long term management of patients.

Question 29

# **WHEN ARE NBS RESULTS AVAILABLE?** * Results can be claimed from the health facility where NBS was availed. Normal NBS Results are available by ____  working days from the time  samples are received at the NSC. * ____ NBS results are relayed to the parents immediately by the health facility. Please ensure that the address and phone number provided to the health facility are correct. * A ____ SCREEN MEANS THAT THE NBS RESULT IS NORMAL. * A ____ SCREEN means that the newborn must be brought back to his/her health practitioner for further testing. 

Answer 29

* Results can be claimed from the health facility where NBS was availed. Normal NBS Results are available by **7 - 14  working days** from the time  samples are received at the NSC. * **Positive NBS results** are relayed to the parents immediately by the health facility. Please ensure that the address and phone number provided to the health facility are correct. * A **NEGATIVE SCREEN** MEANS THAT THE NBS RESULT IS NORMAL. * A **POSITIVE SCREEN** means that the newborn must be brought back to his/her health practitioner for further testing. 

Question 30

# **EFFECT ON BABY IF NOT SCREENED** * **Congenital Hypothyroidism (CH)** - ____ * **Congenital Adrenal Hyperplasia (CAH)** - ____ * **Galactosemia (GAL)** - ____ * **Phenylketonuria (PKU)** - ____ * **G6PD Deficiency** - ____ * **Maple Syrup Urine Disease (MSUD)** - ____

Answer 30

* Congenital Hypothyroidism (CH) - **Severe Mental Retardation** * Congenital Adrenal Hyperplasia (CAH) - **Death** * Galactosemia (GAL) - **Death or Cataracts** * Phenylketonuria (PKU) - **Severe Mental Retardation** * G6PD Deficiency - **Severe Anemia, Kernicterus** * Maple Syrup Urine Disease (MSUD) - **Death**