Podcast
Questions and Answers
Who acts as the Chairman of the Advisory Committee on Newborn Screening?
Who acts as the Chairman of the Advisory Committee on Newborn Screening?
- Executive Director of the NIH
- Director of the Newborn Screening Reference Center
- Secretary of Health (correct)
- Undersecretary of the DILG
What is the term length for the representatives appointed by the Secretary of Health?
What is the term length for the representatives appointed by the Secretary of Health?
- Two years
- Five years
- One year
- Three years (correct)
Which entity provides services to ensure the quality of Newborn Screening Centers?
Which entity provides services to ensure the quality of Newborn Screening Centers?
- Council for the Welfare of Children
- Advisory Committee on Newborn Screening
- Department of Health (DOH) (correct)
- National Institute of Health (NIH)
How frequently does the Advisory Committee meet?
How frequently does the Advisory Committee meet?
What is required for a Newborn Screening Center to operate?
What is required for a Newborn Screening Center to operate?
Who serves as the Secretariat for the Advisory Committee on Newborn Screening?
Who serves as the Secretariat for the Advisory Committee on Newborn Screening?
What is the maximum time frame for performing newborn screening after delivery?
What is the maximum time frame for performing newborn screening after delivery?
Who is primarily responsible for ensuring that newborn screening is performed?
Who is primarily responsible for ensuring that newborn screening is performed?
What action is required if newborn screening results are positive?
What action is required if newborn screening results are positive?
When are newborn screening results typically available?
When are newborn screening results typically available?
What must parents do if they refuse newborn screening on religious grounds?
What must parents do if they refuse newborn screening on religious grounds?
What is the required action if a newborn is in intensive care regarding screening?
What is the required action if a newborn is in intensive care regarding screening?
What should follow-up testing indicate if the initial newborn screening is negative?
What should follow-up testing indicate if the initial newborn screening is negative?
How quickly must confirmatory tests be communicated after a positive result?
How quickly must confirmatory tests be communicated after a positive result?
What is one of the primary responsibilities of the NBS team in a collecting health facility?
What is one of the primary responsibilities of the NBS team in a collecting health facility?
Which of the following is NOT a requirement for a Newborn Screening Center (NSC)?
Which of the following is NOT a requirement for a Newborn Screening Center (NSC)?
How can a collecting health facility ensure effective collection and management of fees for NBS services?
How can a collecting health facility ensure effective collection and management of fees for NBS services?
What essential function must every NSC provide for infants who test positive for heritable conditions?
What essential function must every NSC provide for infants who test positive for heritable conditions?
What is the role of the Newborn Confirmatory Center (NBCC) in the screening process?
What is the role of the Newborn Confirmatory Center (NBCC) in the screening process?
What should a collecting health facility do to make NBS services more accessible to economically deprived groups?
What should a collecting health facility do to make NBS services more accessible to economically deprived groups?
What is required of NSCs regarding inspections?
What is required of NSCs regarding inspections?
What kind of personnel must staff the NSC?
What kind of personnel must staff the NSC?
What is the primary function of the Newborn Screening Reference Center (NSRC)?
What is the primary function of the Newborn Screening Reference Center (NSRC)?
Which of the following roles is NOT associated with the NSRC?
Which of the following roles is NOT associated with the NSRC?
What type of clinics make up the Continuity Clinic part of the Newborn Screening System?
What type of clinics make up the Continuity Clinic part of the Newborn Screening System?
How many continuity clinics are there in the country as mentioned?
How many continuity clinics are there in the country as mentioned?
What initiative does the NSRC take to ensure qualified personnel are available?
What initiative does the NSRC take to ensure qualified personnel are available?
Which role does the NSRC play in terms of educational materials?
Which role does the NSRC play in terms of educational materials?
What does the NSRC advocate for regarding confirmatory tests?
What does the NSRC advocate for regarding confirmatory tests?
What aspect of the newborn screening program is regularly monitored by the NSRC?
What aspect of the newborn screening program is regularly monitored by the NSRC?
What is the primary cause of Congenital Hypothyroidism (CH)?
What is the primary cause of Congenital Hypothyroidism (CH)?
How long is the Certificate of Accreditation (COA) valid for?
How long is the Certificate of Accreditation (COA) valid for?
What is the main enzyme deficiency in 90% of cases of Congenital Adrenal Hyperplasia (CAH)?
What is the main enzyme deficiency in 90% of cases of Congenital Adrenal Hyperplasia (CAH)?
Which of the following must accompany the application for a License to Operate (LTO)?
Which of the following must accompany the application for a License to Operate (LTO)?
What is the most common consequence of untreated Congenital Hypothyroidism?
What is the most common consequence of untreated Congenital Hypothyroidism?
What is the primary treatment administered for Congenital Adrenal Hyperplasia (CAH)?
What is the primary treatment administered for Congenital Adrenal Hyperplasia (CAH)?
Which organization provides the Certification of Accreditation (COA) to health facilities?
Which organization provides the Certification of Accreditation (COA) to health facilities?
What is the inheritance pattern of all forms of Congenital Adrenal Hyperplasia (CAH)?
What is the inheritance pattern of all forms of Congenital Adrenal Hyperplasia (CAH)?
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Study Notes
Newborn Screening Overview
- Obligation for health practitioners to inform parents about newborn screening prior to delivery.
- Department of Health (DOH) responsible for providing appropriate education about newborn screening.
Performance of Newborn Screening
- Screening conducted after 24 hours but no later than 3 days after birth.
- Infants in intensive care may be tested by 7 days of age.
- Parents and healthcare practitioners share responsibility for ensuring screening is completed.
- Samples are collected at the birthing center and sent for laboratory analysis.
Newborn Screening Results
- Negative result: No further follow-up needed.
- Positive result: Requires follow-up testing; immediate treatment is initiated if a specific disorder is confirmed.
- Laboratory results available within 7 working days.
- High-risk results require immediate communication and confirmatory testing within 24 hours.
Refusal of Testing
- Parents can refuse testing due to religious beliefs but must acknowledge risks of undiagnosed conditions.
Advisory Committee on Newborn Screening
- Chaired by the Secretary of Health, with vice chairperson being the Executive Director of the NIH.
- Includes representatives from various health and welfare organizations.
- Meets at least twice a year, NIH acts as the Secretariat.
Establishment and Accreditation of Newborn Screening Centers
- DOH ensures accessibility and quality of Newborn Screening Centers (NSCs).
- NSCs must be accredited by DOH to operate and provide comprehensive services.
- Responsibilities include specimen collection, managing positive cases, and financial systems for services.
Newborn Screening Center (NSC) Requirements
- Must have a certified lab for NBS tests and follow-up programs.
- Personnel must be qualified and undergo inspections for quality control.
Newborn Confirmatory Center (NBCC)
- Part of the National Comprehensive Newborn Screening System, conducts confirmatory testing.
Newborn Screening Reference Center (NSRC)
- Central facility defining protocols, maintaining national testing databases, and overseeing training.
- Provides technical support to set up NSCs and promotes confirmatory testing.
Newborn Screening Continuity Clinics
- Ambulatory clinics that facilitate ongoing care for confirmed patients.
- 33 clinics spread across 14 regions in the country.
Licensing and Accreditation
- Certificate of Accreditation (COA) for NSCs valid for 3 years, requires application to the Health Facilities and Services Regulatory Bureau (HFSRB).
- License to Operate (LTO) for NBCCs valid for 1 year, requires NIH certification of compliance with technical standards.
Congenital Hypothyroidism (CH)
- Most commonly caused by thyroid dysgenesis (absent, ectopic, or hypoplastic thyroid).
- Detection and early treatment with Levothyroxine can prevent severe mental impairment and growth issues.
Congenital Adrenal Hyperplasia (CAH)
- Caused by enzymatic defects in steroid biosynthesis, mostly due to 21-hydroxylase deficiency.
- Inherited in an autosomal recessive pattern, treatment involves glucocorticoid and mineralocorticoid replacements to correct hormonal deficiencies.
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