NEWBORN SCREENING TEST Flashcards
Newborn Screening Test is also called
Blood spot screening
“Heel stick” or “24-hour test”
No national newborn screening program prior to
2004
Newborn Screening Study Group – Pilot study in
1996
With this Newborn Screening Test
doctors can detect congenital conditions such as hormonal and metabolic disorders.
nsufficient thyroid hormones that could lead to slow growth and intellectual disability.
Congenital hypothyroidism
n inherited disorder where children cannot breakdown the amino acid phenylalanine, which can lead to brain damage.
Phenylketonuria
a group of genetic disorders affecting the adrenal glands – structures that produce vital hormones. Babies with CAH lack one enzyme to make these vital hormones and are at risk of adrenal crisis, a life-threatening condition.
Congenital adrenal hyperplasia (CAH)
an inherited condition where babies lack
the G6PD enzyme. This can result in hemolytic anemia, which can be fatal when not properly treated
Glucose-6 phosphate dehydrogenase (G6PD) deficiency
the inability to metabolize galactose, a type of sugar commonly found in breastmilk.
This condition can be life-threatening if not treated early.
Galactosemia –
Like phenylketonuria, babies with MSUD cannot metabolize specific
proteins. Infants with this condition have maple-smelling urine. Left untreated, MSUD can be fatal.
Maple syrup urine disease
The ENBS tests for at least __ additional disorders like amino acid disorders and hemoglobinopathies, which affect the shape and number of red blood cells.
22
Starting ____, the expanded newborn screening was offered by newborn screening facilities nationwide.
2015
Data of Filipino newborns screened in the California newborn screening program from ___ have prompted the formal recommendation of Expanded Newborn Screening (ENBS) Program in the Philippines to the ACNBS.
2005 to 2011
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Endocrine Disorders
Homocystinuria Hypermethioninemia/Methionine Adenosine Transferase Deficiency
Maple Syrup Urine Disease
Phenylketonuria
Tyrosinemia Type I
Tyrosinemia Type II, III
Amino Acid Disorders
Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase II Deficiency Glutaric Acidemia Type II
Carnitine Uptake Deficiency
- Fatty Acid Disorders
3-Methylcrotnyl CoA Carboxylase Deficiency
Beta Ketothiolase Deficiency
Glutaric Acidemia Type I
Isovaleric Acidemia
Methylmalonic Acidemia
Multiple Carboxylase Deficiency
Propionic Acidemia
Organic Acid Disorders
Citrullinemia
Argininosuccinic Aciduria
Urea Cycle Defect
Hemoglobin C
Hemoglobin D
Hemoglobin E
Alpha Thalassemia
Beta Thalassemia
Sickle Cell Disease
Hemoglobinopathies
Galactosemia
Glucose-6-Phosphate Dehydrogenase Deficiency
Cystic Fibrosis
Biotinidase Deficiency
Others
Newborn babies are eligible if they meet all these criteria:
One of the parents is an eligible
PhilHealth Member.
Born in PhilHealth-accredited facilities.
Service is availed of right after delivery
hen should the newborn screening be done in the Philippines?
he blood has to be collected immediately – usually 24 to 48 hours after birth, before the mother and child leave the lying-in clinic or hospital.
Some pediatricians/pediatric endocrinologist prefer __ hours because of the stabilization of hormones at that point.
48
The Newborn Screening Test can be done both in the hospital room and in the
nursery
Procedure:
Gently warm the baby’s foot to
increase blood flow
Make a quick pinprick on the baby’s heel
Blot the blood on a special card.
Once the blood spots have dried, the card is sent off to the to the National Screening Center
If the results are normal, the result will be released within
7 to 14 days after the test
If the results are positive, the parents may hear _____from the health facility.
immediately
Scenarios that may need a repeat test:
Premature babies
Insufficient blood samples
Unclear results
or the “Newborn
Screening Act of 2004” ensures 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.
▶ Republic Act No. 9288
When is the National Newborn Screening Week
First Week of October
