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Newborn screening tests look for serious
developmental, genetic, and metabolic
disorders.so that important action can be
taken during the critical time before
symptoms develop.
Most of these illnesses are very rare, but are treatable if caught early.
Screening is a early detection of screenable disorder and it has treatable ,the intervention will change the out come.
The initial aim of newborn screening was to identify infants with serious but treatable disorders, so as to facilitate interventions to prevent or ameliorate the clinical consequences of the diseases .
Damage can lead to :
1- Mental Retardation.
2-Disability.
3- Death.
Screening is the secondary prevention , because it is method to diagnose and treat existing disease in early stages before it causes significant morbidity.
The timing of the test also has an important influence on the results.
A newborn during the first 72 h is catabolic to some extent, and this is very useful for detecting disorders of intermediary metabolism.
When baby is 1 or 2 days old , but some city require that baby has newborn screening again about 2 weeks later .
Newborn screening tests are mainly carried out on blood spots dried on specially manufactured filter paper, usually obtained by heel-stick. Although various forms of venous blood sampling may also be used, filter paper blood samples will be considered here.
Methods
A wide variety of technologies can be applied to filter paper samples, including bacterial inhibition assays, chromatographic techniques, enzyme-linked immunosorbent assays
(ELISA), fluorescent immunoassays (FIA), radioimmunoassay (RIA), and most recently electrospray ionisation tandem mass spectrometry (MSMS).
Screenable Disorders(IEM)
Biochemical (metabolic)
• Phenylketonuria
• Galactosemia
Hematology disorders :
Sickle cell disease and Thalassemia.
Genetic disorders : Cystic Fibrosis.
Endocrine disorders :Hypothyroidism.
Clinical Features:
Pku Test Methods:
Raised plasma phenylalanine level
Biochemical assays of PAH enzyme.
Treatment of PKU:
Removal of phenylalanine from diet,
Clinical features :
Definition :
Cystic fibrosis is an autosomal recessive disorder, and most carriers of the gene are asymptomatic.
Cystic fibrosis is a disease of exocrine gland function that involves multiple organ systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients . End-stage lung disease is the principal cause of death.
Test for the dieses :
Newborn screening for cystic fibrosis based on the detection of an elevated blood level of immunoreactive trypsin (IRT) whitch is a protein produced by the pancreas that is linked to CF.
Treatment :
early treatment with physiotherapy and antibiotics will improve the long-term prognosis.
If not treated :
associated complications will develop :
The most common complication is chronic respiratory infection.
Bowel problems, such as gallstones, intestinal obstruction, and rectal prolapse
Coughing up blood , Chronic respiratory failure.
Liver disease or liver failure, pancreatitis, biliary cirrhosis
This is a genetic disease caused by replacement of amino acid glutamic acid (polar negatively charged) at position 6 of subunit by valine (hydrophobic, nonpolar).
Common Symptoms of Sickle Cell Disease:
-The most common symptom of sickle cell disease is pain
-Infection,Anemia ,Fatigue
-"Acute Chest Syndrome"
-Jaundice
-Damage to the organs, such as the liver, kidneys, or lungs.
-Brain damage or stroke.
To look for sickle cell disease at newborn screening we based on hemoglobin electrophoresis
Treatment :
Infants who have been diagnosed with sickle cell anemia through newborn screening are treated with antibiotics and receive needed vaccinations.-Blood transfusions -NSAIDs .-Research on blood and marrow stem cell transplants, gene therapy, and new medicines for sickle cell anemia is ongoing
ThalassThalassaemia is inherited disorder of the haemoglobin molecule. Decrease rate of synthesis of globin chains due to gene mutations.
*The two main types of thalassaemia are ß and αemia
Haematological methods commonly used to diagnose thalassaemia
Haemoglobin electrophoresis.
Standard Treatments :
Blood Transfusions
Transfusions of red blood cells are the main treatment thalassemias.
Iron Chelation Therapy
Folic Acid Supplements
Start date: 01 January 2003
The National Newborn Screening is a public health program implemented to detect and prevent selected congenital and heritable disorders. These disorders cause severe mental retardation, illness, or death if not treated early in life. Numerous studies showed that early detection and early intervention may prevent these consequences.
1. Phenylketonuria (PKU)..
.2. Maple Syrup Urine Disease (MSUD)
3. Arginosuccinase Deficiency (ASL)
4. Citrullinemia (ASD)
5. HMG-CoA Lyase Deficiency (HMG)
6. Isovaleric Acidemia (IVA)
7. Methylmalonic Acidemia (MMA)
8. Propionic Acidemia (PA)
9. Beta-ketothiolase Deficiency (BKT)
10. Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
11. Glutaric Acidemia type-I (GA-I)
12. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
13. Galactosemia (GAL)14. Congenital Hypothyroidism (CH)
15. Congenital adrenal Hyperplasia (CAH)
16. Biotinidase Deficiency (BD)
VIDEO ARCHIVE
Definition
Examination or testing of a group of individuals to separate those who are well from those who have an undiagnosed disease or defect or who are at high risk.
newborn screening
The examiner then holds theinfant’s foot
by encircling the ball of the heel with thumb
andforefinger. The site selected for the heel
prick must be on the side of the heel; if the
ball or back of the heel is used a painful
ulcer may form.
should squeeze and release the fingers around the infant’s calf and keep the heel below the rest of the leg.
Travels to Clients
Pathogenesis
Clinical Presentation
Newborn screening
Definition:
In 1991 the first case of Hypothyroidism reported in saudia arabia
1994 Introduction of tandem mass spectrometry at KFSH&RC
1995-1998 First MS/MS pilot study, published 1999
1995-2005 Expanded newborn screening on small scale
Aug 2005 National newborn screening started
Phase I includes 24 birth centers and 120,000 newborns
2008 Coverage of >400,00 newborns
Definition :
Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency .
Congenital hypothyroidism (underactivity of the thyroid gland at birth)
Test for conginital hypothyrodism :
The test is based on assay of either thyroxine or thyroid stimulating hormone.
Treatment :
with life-long thyroxine replacement is extremely effective in preventing the severe developmental problems associated with the classic picture of 'cretinism'.
Newborns are routinely screened for their hearing shortly after birth to prevent delays in normal language skills.
Many technological developments now make it
possible to identify and quantify hearing loss in newborns.
These include :
-Acoustical (otoacoustic emission - OAE)
-Electrophysiological (auditory brainstem response - ABR) tests.
Complications include:
heart disease
chronic liver
hepatitis
hepatocellular carcinoma *endocrine problems stunted growth
osteoporosis
thrombophilia.
Haemoglobin electrophoresis.