newborn screening Flashcards
should ensure that every baby born in the Philippines is offered the
opportunity to undergo newborn screening and thus be spared
from heritable conditions that can lead to mental retardation
and death if undetected and untreated.
Newborn Screening Act of 2004, the National Comprehensive Newborn Screening System (NCNBSS)
The components of the
system include: 6 (RA 9288)
education, screening, follow-up, diagnosis,
treatment and management, and evaluation.
A SIMPLE procedure TO find out if a baby HAS a congenital
metabolic disorder that may lead to mental retardation or
death if left untreated
NEWBORN SCREENING (NBS)
NEWBORN SCREENING is ideally done on ____ hr of life; also, be done after 24hrs of life but not later than 3days from the complete delivery of the newborn
48th - 72nd hr of life
Responsible for the national testing database and case registries,
training, technical assistance, and continuing education for laboratory staff
newborn screening reference center (nsrc)
inability to produce thyroid hormone
CONGENITAL HYPOTHYROIDISM
-Inherited disorder
- Inability of the adrenal gland to SECRETE cortisol or aldosterone, or both.
CONGENITAL ADRENAL HYPERPLASIA
Inherited disorder
- The body unable to METABOLIC galactose and the person is
unable to tolerate any form OF milk.
GALACTOSEMIA
Without the ability to properly break DOWN an amino acid called phenylalanine.
PHENYLKETONURIA
- The red blood cells break DOWN WHEN THE BODY IS EXPOSED to
certain drugs, food, severe stress OR severe infection.
GLUCOSE 6 PHOSPHATE DEHYDROGENASE
- Unable to break down amino ACID leucine, isoleucine, and valine -
Urine of affected person smells LIKE maple syrup
MAPLE SYRUP URINE DISEASE
Blood sample may be obtained by:
▪ ✓ Physician
▪ ✓ Nurse
▪ ✓ Medical technologist
▪ ✓ Trained midwife
The specimen is obtained through a
HEAL PRICK
NEWBORN SCREENING IS AVAILABLE IN:
- HOSPITALS
- LYING IN CLINICS
- RHU’s
- HEALTH CENTERS
- SOME PRIVATE CLINIC
Results are available 7-14 working days from the time samples are received at the NSC.
NORMAL ( NEGATIVE )
- results should be relayed to the parents immediately
- must be referred to a specialist for confirmatory testing and further management
POSITIVE
most cases of _______ happen because the thyroid doesn’t from correctly in the baby during pregnancy. at birth, the baby may have no thyroid gland at all, or have a small, partially developed gland. why this happens is often unknown, but in some cases it is genetic
CONGENITAL HYPOTHYROIDISM (CH)
is an inherited disorder that affects the production of certain hormones and causes the adrenal glands to become too big (hyperplastic)
CONGENITAL ADRENAL HYPERPLASIA (CAH)
adults take ___, ___, or ____, which also replace cortisol
hydrocortisone, prednisone, dexamethasone
for children with congenital adrenal hyperplasia, as with all children, a diet rich in fruits and vegetables and _______________________ can help to maintain health and ensure growth and development.
low in processed foods and saturated and trans fats
is a rare but serious inherited condition. It means the body cannot process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine.
MAPLE SYRUP URINE DISEASE (MSUD)
WHAT ARE THE SYMPTOMS OF MAPLE SYRUP URINE DISORDER:
- VOMITING
- LACK OF ENERGY (LETHARGY)
- DEVELOPMENTAL DELAY
- AVOIDING FOOD
- URINE THAT SMELLS LIKE MAPLE SYRUP
- if untreated, maple syrup urine disease can lead to seizures, coma, and death
if may maple syrup urine disease assess ____ as may be impaired by protein restriction. provide oral hygiene
SKIN INTEGRITY
is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body.
PHENYLKETONURIA (PKU)
