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NR-NUR121 | Mother and Child Nursing (MCN) > [21] MIDTERMS | NB SCREENING > Flashcards

[21] MIDTERMS | NB SCREENING Flashcards

1
Q
  • 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.
A

NEWBORN SCREENING PROGRAM (DOH)

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2
Q

NEWBORN SCREENING PROGRAM (DOH)

  • Goal: By year ____, all Filipino newborns are screened for the more common and life-threatening ____ disorders.
A
  • Goal: By year 2025, all Filipino newborns are screened for the more common and life-threatening congenital metabolic disorders.
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3
Q

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.
A
  • 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.
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4
Q

NEWBORN SCREENING PROGRAM (DOH)

  • Policies and Laws
    ____ – Guidelines on the Implementation of the ____ (2014)
A
  • Policies and Laws
    DOH AO No. 2014-0045 – Guidelines on the Implementation of the Expanded Newborn Screening Program (2014)
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5
Q

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.
A
  • 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.
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6
Q

6 METABOLIC DISORDERS

  • Congenital H____
  • Congenital A____
  • P____
  • M____
  • G____
  • G____
A
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • Phenylketonuria
  • Maple Syrup Urine Disease (MSUD)
  • Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency
  • Galactosemia
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7
Q

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
A

CONGENITAL HYPOTHYROIDISM

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8
Q

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
A

CONGENITAL ADRENAL HYPERPLASIA

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9
Q

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
A

GALACTOSEMIA

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10
Q

GALACTOSEMIA

  • Normally, ____ binds to galactose and converts it into glucose, which is then used for energy
A
  • Normally, GALT binds to galactose and converts it into glucose, which is then used for energy
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11
Q

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
A
  • 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
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12
Q

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.
A

TYPE III GALACTOSEMIA

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13
Q

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
A

PHENYLKETONURIA

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14
Q

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
A

GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY

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15
Q

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.
A

MAPLE SYRUP URINE DISEASE (MSUD)

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16
Q

EXPANDED NEWBORN SCREENING

+ CONGENITAL DISORDERS

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

+ CONGENITAL DISORDERS

  • Cystic Fibrosis
  • Biotinidase Disease
  • Organic Acid Disorders
  • Fatty Acid Oxidation Disorders
  • Amino Acid Disorders
  • Urea Cycle Disorder
  • Hemoglobin Disorders
17
Q

EXPANDED NEWBORN SCREENING

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

CYSTIC FIBROSIS

18
Q

EXPANDED NEWBORN SCREENING

  • unable to recycle the Vit. Biotin
A

BIOTINIDASE DISEASE

19
Q

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).
A

HEMOGLOBINOPATHIES

20
Q

EXPANDED NEWBORN SCREENING

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

ORGANIC ACID DISORDER

21
Q

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.
A

FATTY ACID OXIDATION DISORDER

22
Q

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.
A
  • 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.
23
Q

NEWBORN SCREENING

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

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
A
  • 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
25
Q

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 thePhilhealth Newborn Care Package.
  • Expanded NBS –____
A
  • 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 thePhilhealth Newborn Care Package.
  • Expanded NBS –P1,750.00
26
Q

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) - ____
A

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
27
Q

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).
A
  • 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).
28
Q

NEWBORN SCREENING IN THE PHILIPPINES

  • Nov 21, 2018 -NBS program has grew from one to ____ operationalNewborn Screening Centers(NSC); from 24 pilot hospitals to ____Newborn Screening Facilities(NSFs) as of November 15, 2018; from one to ____ G6PD ConfirmatoryCenters; and now with 14 continuityclinicsfor the long term management of patients.
A
  • Nov 21, 2018 -NBS program has grew from one to six (6) operationalNewborn Screening Centers(NSC); from 24 pilot hospitals to 7062Newborn Screening Facilities(NSFs) as of November 15, 2018; from one to twenty-six (26) G6PD ConfirmatoryCenters; and now with 14 continuityclinicsfor the long term management of patients.
29
Q

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.
A
  • 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.
30
Q

EFFECT ON BABY IF NOT SCREENED

  • Congenital Hypothyroidism (CH) - ____
  • Congenital Adrenal Hyperplasia (CAH) - ____
  • Galactosemia (GAL) - ____
  • Phenylketonuria (PKU) - ____
  • G6PD Deficiency - ____
  • Maple Syrup Urine Disease (MSUD) - ____
A
  • 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

NR-NUR121 | Mother and Child Nursing (MCN) (26 decks)

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