Week 9: Newborn screening Flashcards
He used blood samples collected through the finger pricking of a newborn’s feet on the second day of his life
He was given the credit for discovering earliest screening for phenylketonuria
Robert Guthrie
Newborn Screening Act of 2004 is also know as?
Republic Act No. 9288
non-diagnostic because a series of follow-up procedures should be made to clarify abnormal results
newborn screening test
Newborn screening is done after how many hours after birth?
24 hours after birth; at ICU: within 7 days of age
It mandates the newborn screening procedure as it is a national policy in favor of the child’s health.
It is the policy of the State to protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals
Newborn Screening Act of 2004 or R.A 9288
means a newborn screening system that
includes, but is not limited to, education of relevant stakeholders; collection and biochemical screening of blood samples taken from newborns; tracking and confirmatory
testing to ensure the accuracy of screening results; clinical evaluation and
biochemical/medical confirmation of test results; drugs and medical/surgical management
and dietary supplementation to address the heritable conditions; and evaluation activities to
assess long term outcome, patient compliance and quality assurance
Comprehensive newborn screening
means the monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine of dietary prescriptions
Follow-up
mean hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with obstetrical and pediatric services, whether public or private.
Health institutions
means physicians, nurses, midwives, nursing aides and traditional birth attendants
Healthcare practitioner
means any condition that can result in mental retardation, physical
deformity or death if left undetected and untreated and which is usually inherited from the genes of either or both biological parents of the newborn
Heritable condition
NIH
national institute of health
means a child from the time of complete delivery to 30 days old.
Newborn
means the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing for
determining if the newborn has a heritable condition.
Newborn screening
means a facility equipped with a newborn screening
laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions
Newborn screening center
means the various means of providing parents or legal guardians information about newborn screening.
Parent education
- Newborn screening shall be performed after
twenty-four (24) hours of life but not later than three (3) days from complete delivery of the
newborn. - A newborn that must be placed in intensive care in order to ensure survival may be
exempted from the 3-day requirement but must be tested by seven (7) days of age.
SEC. 6. Performance of Newborn Screening
means the central facility at the NIH that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all
aspects of the program, oversees content of educational materials and acts as the secretariat of the advisory committee on newborn screening
Newborn screening reference center
Any health practitioner who delivers, or assists in the delivery, of a newborn in the Philippines shall, prior to delivery, inform the parents or legal guardian of the newborn of the availability, nature and benefits of newborn screening.
Appropriate notification and education regarding this obligation shall be the responsibility of
the Department of Health (DOH)
SEC. 5. Obligation to Inform
means a procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment.
Recall
means the provision of prompt, appropriate and adequate medicine, medical, and surgical management or dietary prescription to a newborn for purposes of treating or mitigating the adverse health consequences of the heritable condition.
Treatment
a parent or legal guardian may refuse testing on the grounds
of religious beliefs, but shall acknowledge in writing their understanding that refusal for testing
places their newborn at risk for undiagnosed heritable conditions.
SEC. 7. Refusal to be Tested
- Hemoglobinopathies
- Organic Acidurias
- Amino acid disorders
- Fatty acid oxidation disorders
- Cystic fibrosis
- Biotin metabolism disorders
- Endocrine disorders
- Carbohydrate metabolism disorders
CLINICAL CONDITIONS SCREENED
The NIH shall establish a Newborn Screening Reference Center, which shall be responsible for the national testing database and case registries, training, technical assistance and continuing education
for laboratory staff in all Newborn Screening Centers.
SEC. 13. Establishment of a Newborn Screening Reference Center.
The DOH shall be the lead agency in implementing this Act. For purposes of achieving the objectives of this Act, the DOH shall:
1) Establish the Advisory Committee on Newborn Screening
2) Develop the implementing rules and regulations for the immediate implementation of a
nationwide newborn screening program within one hundred eight (180) days from the enactment of this Act;
3) Coordinate with the Department of the Interior and Local Government (DILG) for
implementation of the newborn screening program;
4) Coordinate with the NIH Newborn Screening Reference Center for the accreditation of
Newborn Screening Centers and preparation of defined testing protocols and quality
assurance programs.
SEC. 10. Lead Agency
having an amino acid substitution lysine for glutamic acid on the sixth position of the beta chain
Hemoglobin C disease
The DOH shall ensure that Newborn Screening Centers are strategically located in order to be
accessible to the relevant public and provide services that comply with the standards approved by the Committee upon the recommendation of the NIH.
SEC. 12. Establishment and Accreditation of Newborn Screening Centers.
Hemoglobinopathies is a condition associated with abnormal heme synthesis, haemoglobin variants, and globin synthesis.
Hemoglobinopathies
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.
Porphyrias
sickle cell anemia is a clinical condition in which erythrocytes become rigid and trapped in capillaries.
Sickle cell disease
is characterized by having 31 amino acid added to the alpha chain. Clinically resembles alpha thalassemia
Hemoglobin constant spring
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.
Hemoglobin SC disease
characterized by the absence or poor functioning of the thyroid gland, resulting in the reduced production of thyroxine
(increased thyroid stimulating hormones).
Newborns with a deficiency of
thyroxine may have severe intellectual disabilities and growth problems.
Congenital hypothyroidism
having an amino acid substitution glutamine at the 121st position of the beta chain
Hemoglobin D disease
clinical condition whose predominant cause is gene deletion. Alpha and Beta thalassemia are the most common.
Thalassemia
clinical disorder characterized by a deficiency of
the enzyme steroid 21-hydroxylase which comes in two forms, namely simple
virilizing and salt-wasting.
Classic adrenal hyperplasia
This is an inherited autosomal recessive disorder characterized by a deficiency in phenylalanine hydroxylase (converting phenylalanine into tyrosine). It may result
in severe mental retardation.
Other disorders include maple syrup urine disease, alkaptonuria, tyrosinuria/ytrosinemia and cyrstinuria.
Amino acid disorders
t is considered 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.
Cystic fibrosis
one of the most recently discovered disorders is medium chain acyl-CoA
dehydrogenase deficiency.
Although asymptomatic, it is life threatening and
classified as a fatty acid oxidation disorder.
The patient may experience muscle
problems, poor feeding, vomiting, and seizure.
The disorder is often fatal.
Fatty acid oxidation disorders
● DATE OF APPROVAL: JANUARY 7, 1992
● TERM: CORAZON C. AQUINO
● SECTIONS: 19
ORGAN DONATION ACT OF 1991
Individual who makes a legacy of all or part of his body
Testator
AN ACT AUTHORIZING THE LEGACY OR DONATION OF ALL OR PART OF A HUMAN BODY AFTER DEATH FOR SPECIFIED PURPOSES
*amended by RA 7885 (July 25, 1995)
ORGAN DONATION ACT OF 1991
Deceased individual, and includes a still-born infant or fetus
Testator
Individual, corporation, estate, trust, partnership, assoc., the gov’t, or any of its
subdivisions, agencies or instrumentalities, including government-owned or – controlled corporations; or any other legal entity
Person
Facility licensed, accredited or approved under the law for storage of human
bodies or parts thereof
Organ Bank Storage Facility
Includes transplantable organs, tissues, eyes, bones, arteries, blood, other fluids, and
other portions of the human body
Part
reversible cessation of circulatory and respiratory functions, or irreversible cessation of
all functions of the entire brain, including the brain stem
Death
individual authorized under this act to donate all or part of the body of a decedent
Donor
Persons enumerated in section 4a of this Act
Immediate Family of the
Decedent
Physician or surgeon licensed or authorized to practice medicine under the laws of the Republic of the Philippines
Physician/Surgeon
Persons enumerated in section 4a of this Act
”Immediate Family of the
Decedent”
Irreversible cessation of circulatory and respiratory functions, or irreversible cessation of all functions of the entire brain, including the brain stem
Death
SECTION __:
Any individual, at least eighteen (18) years of age and of sound mind, may give by way of legacy, to take effect after his death, all or part of his body for any purpose specified in Section 6 hereof.
SECTION 3. Person Who May Execute a Legacy
a) Any of the following persons, in the order of priority stated hereunder, in the absence of actual notice of contrary intentions by the decedent or actual notice of opposition by a member of the immediate family of the decedent, may donate all or any part of the decedent’s body for any purpose specified in Section 6 hereof:
b) The persons authorized by sub-section (a) of this section may make the donation after or immediately before death
SECTION 4. Person Who May Execute a Donation
A legacy or donation of all or part of a human body authorizes any examination
necessary to assure medical acceptability of the legacy or donation for the purpose(s)
intended.
For purposes of this Act, an autopsy shall be conducted on the cadaver of accident,
trauma, or other medico-legal cases immediately after the pronouncement of death, to determine qualified and healthy human organs for transplantation and/or in furtherance of medical science.
SECTION 5. Examination of the Human Body or Parts Thereof
For medical or dental education, research, advancement of medical or dental science, therapy or transplantation
Any hospital, physician or surgeon
For education, research, advancement of medical or dental science, or therapy
Any accredited medical or dental school, college or university
For medical or dental education, research, therapy, or transplantation
Any organ bank storage facility
For therapy or transplantation needed by him.
Any specified individual
A hospital authorized to receive organ donations or to conduct transplantation shall train qualified personnel and their staff to handle the task of introducing the organ
donation program in a humane and delicate manner to the relatives of the donor-decedent enumerated in Section 4 hereof. The hospital shall accomplish the necessary
form or document as proof of compliance with the above requirement
SECTION 7. Duty of Hospitals
a) Legacy of all or part of the human body under Section 3 hereof may be made by will. The legacy becomes effective upon the death of the testator without waiting for probate of the will.
b) A legacy of all or part of the human body under Section 3 hereof may also be made in any document other than a will.
c) The legacy may be made to a specified legatee or without specifying a legatee.
d) The testator may designate in his will, card or other document, the surgeon or physician who will carry out the appropriate procedures. In the absence of a designation, or if the designee is not available, the legatee or other persons authorized to accept the legacy may authorize any surgeon or physician for the purpose.
SECTION 8. Manner of Executing a Legacy
Any donation by a person authorized under subsection (a) of Section 4 hereof shall be sufficient if it complies with the formalities of a donation of a movable property.
In the absence of any of the persons specified under Section 4 hereof and in the absence of any document of organ donation, the physician in charge of the patient, the head of
the hospital or a designated officer of the hospital who has custody of the body of the deceased classified as accident, trauma, or other medico-legal cases, may authorize in a public document the removal from such body for the purpose of transplantation of the
organ to the body of a living person: Provided, That the physician, head of hospital or officer designated by the hospital for this purpose has exerted reasonable efforts, within forty-eight (48) hours, to locate the nearest relative listed in Section 4 hereof or guardian of the decedent at the time of death.
SECTION 9. Manner of Executing a Donation
Only authorized medical practitioners in a hospital shall remove and/or transplant any organ which is authorized to be removed and/or transplanted pursuant to Section 5
hereof.
SECTION 10. Person(s) Authorized to Remove Transplantable Organs
If the legacy or donation is made to a specified legatee or donee, the will, card or other document, or an executed copy thereof, may be delivered by the testator or donor, or his authorized representative, to the legatee or donee to expedite the appropriate
procedures immediately after death.
SECTION 11. Delivery of Document of Legacy or Donation
- The execution and delivery to the legatee or donee of a signed statement to that
effect; or - An oral statement to that effect made in the presence of two other persons and
communicated to the legatee or donee; or - A statement to that effect during a terminal illness or injury addressed to an
attending physician and communicated to the legatee or donee; or - A signed card or document to that effect found on the person or effects of the
testator or donor
SECTION 12. Amenment of Revocation of Legacy or Donation
A) The legatee or donee may accept or reject the legacy or donation as the case may be. If the legacy or donation is of a part of the body, the legatee or donee, upon the death of the testator and prior to embalming, shall effect the removal of the part, avoiding unnecessary mutilation. After removal of the part, custody of the
remainder of the body vests in the surviving spouse, next of kin or other persons
under obligation to dispose of the body of the decedent.
b) Any person who acts in good faith in accordance with the terms of this Act shall not be liable for damages in any civil
SECTION 13. Rights and Duties After Death
Sharing of human organs or tissues shall be made only through exchange programs duly approved by the Department of Health: Provided, that foreign organ or tissue bank storage facilities and similar establishments grant reciprocal rights to their Philippine counterparts to draw human organs or tissues at any time.
SECTION 14. International Sharing of Human Organs or Tissues
In order that the public will obtain the maximum benefits from this Act, the Department of Health, in cooperation with institutions, such as the National Kidney Institute, civic and non-government health organizations and other health related agencies, involved
in the donation and transplantation of human organs, shall undertake a public information program.
The Secretary of Health shall endeavor to persuade all health professionals, both government and private, to make an appeal for human organ donation.
SECTION 15. Information Drive
The provisions of this Act are hereby deemed separable. If any provision hereof should be declared invalid or unconstitutional, the remaining provisions shall remain in full force and effect.
SECTION 18. Separability Clause
The Secretary of Health, after consultation with all health professionals, both
government and private, and non-government health organizations shall promulgate such rules and regulations as may be necessary or proper to implement this Act.
SECTION 16. Rules and Regulations
All laws, decrees, ordinances, rules and regulations, executive or administrative orders, and other presidential issuance inconsistent with this Act, are hereby repealed, amended or modified accordingly.
SECTION 17. Repealing Clause
This Act shall take effect after fifteen (15) days following its publication in the Official Gazette or at least two (2) newspapers of general circulation.
Approved: January 7, 1992
SECTION 19. Effectivity
