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Newborn Screening Pamplet

Newborn Screening Pamplet

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Categories:Types, Research, Science
Published by: Beige Cabrera Alejandro on Jun 27, 2012
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10/07/2013

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BULACAN STATE UNIVERSITY 
Malolos City of BulacanCollege of Nursing
What isNEWBORN SCREENINGAll about ?Submitted by:
Ms. Abigael Alejandro
Submitted to:
Mrs. Christine Ira Cadacio, R.N.
 
- is an X-linked recessive hereditary disease characterizedby abnormally low levels of the glucose-6-phosphatedehydrogenase enzyme (abbreviated G6PD or G6PDH). It isa metabolic enzyme involved in the pentose phosphatepathway, especially important in red blood cell metabolism.
If left untreated your baby would suffer the following:
-
excessive facial hair,virilization, andmenstrual irregularityin adolescence
-
-
vomitingdue tosalt-wastingleading to dehydrationand death
-
hypertension
GAL (Galactosemia)-
Speech deficit
-
Ataxia
-
Dysmetria
-
Diminished bone density
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Premature ovarian failure
-
Cataract
- hemolytic crises- prolonged neonatal jaundice that will lead toKernicterus
FAQsWhat is newborn screening?
Newborn screening program of 2004 (NBS) orR.A. 9288is asimple procedure to find out if your baby hasgenetic,endocrinologic,metabolicandhematologicdiseases that may lead to mental retardation and even death if left untreated.
Why is it important to have newborn screening?
Most babies with metabolic disorders look normal at birth. Onewill never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are alreadyirreversible.
When is newborn screening done?
Newborn screening is ideally done on the 48th hour or at least24 hours from birth. Some disorders are not detected if the testis done earlier than 24 hours.
 
How is newborn screening done?
Newborn screening is a simple procedure. Using the heel prickmethod, a few drops of blood are taken from the baby's heeland blotted on a special absorbent filter card. The blood is driedfor 4 hours and sent to the Newborn Screening Laboratory (NBSLab).
Who willcollect the sample for newborn screening
Newborn screening can be done by a physician, a nurse, amidwife or medical technologist.
Where is newborn screening available?
Newborn screening is available in participating healthinstitutions (hospitals, lying-ins, Rural Health Units and HealthCenters). If babies are delivered at home, babies may bebrought to the nearest institution offering newborn screening.
When are newborn screening results available?
Newborn screening results are available within seven tofourteen ( 7 - 14) working days after the newborn screeningsamples are received in the NBS laboratory.
5 Disorders to be Screened
- is a condition of thyroid hormone deficiency present at birth.Approximately 1 in 4000 newborn infants has a severedeficiency of thyroid function, while even more have mild orpartial degrees. If untreated for several months after birth,severe congenital hypothyroidism can lead to growth failureand permanent mental retardation. Treatment consists of adaily dose of thyroid hormone (thyroxine) by mouth. Becausethe treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect andtreat congenital hypothyroidism in the first weeks of life.
- refers to any of several autosomal recessive diseasesresulting from mutations of genes for enzymes mediating thebiochemical steps of production of cortisol from cholesterol bythe adrenal glands (steroidogenesis). Most of these conditionsinvolve excessive or deficient production of sex steroids andcan alter development of primary or secondary sexcharacteristics in some affected infants, children, or adults.Approximately 95% of cases of CAH are due to 21-hydroxylasedeficiency.
- is a rare genetic metabolic disorder which affects anindividual's ability to properly metabolize the sugargalactose. Lactose in food (such as dairy products) is broken

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