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Definition of screening

Definition of newborn screening

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.

Aims of Neonatal Screening

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.

Screening Neonatal for such

dangerous and rare diseases

gives them the best chance for a

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 .

Type of Nernatal Screening

 

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:

  • Developmental delay
  • Behavioral disturbance
  • Mental retardation
  • Seizures (25%).
  • Characteristic musty odor (sweat , urine)
  • Lighter pigmentation (hair, skin, eyes)
  • Eczema (common)

Pku Test Methods:

Raised plasma phenylalanine level

Biochemical assays of PAH enzyme.

Treatment of PKU:

Removal of phenylalanine from diet,

  • Most common disorder of carbohydrate metabolism.
  • It is an autosomal recessive disorder in which the body cannot break down the sugar called galactose.
  • Defect in Galactosemetabolism due to enzyme deficiency (GALT)

Clinical features :

  • growth retardation.
  • developmental delay.
  • Some babies will develop a protruding tongue.
  • Poor muscle tone .

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

Sickle Cell Disease

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)

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VIDEO ARCHIVE

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Objectives

Definition

Neonatal g

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.

  • Definition of screening.

  • Definition of neonatal screening.

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Done by:

  • Aims of Neonatal Screening

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Aeshah Al-Asmari - Shoaa Aldahri

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  • Timing of newborns screening

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  • Type of neonatal screeing
  • Hearing screening
  • Technique of

Neonatal Screening

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BIG Program!

  • Commons disorders of Biochemical screening .

  • Saudi Neonatal Screening Program for
  • neonatal screening

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How to Do Neonatal Screening

Two

Timing of the screening

Step Three

And now all is right again

newborn screening

  • 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.
  • The site is wiped with isopropyl alcohol and allowed to dry. A spring loaded lancet introducer is used

Step Three

Healthy life

  • The initial drop of blood should be wiped away with a dry cotton swab and succeeding drops allowed to drip into the Container.

Step one

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.

  • The heel must be warm.

  • The examiner then holds the infant’s foot by encircling the ball of the heel with thumb and forefinger.

Step four

  • To milk blood into the heel the examiner

should squeeze and release the fingers around the infant’s calf and keep the heel below the rest of the leg.

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CYSTIC FIBROSIS

Classic Galactosemia

Common disorders

Pathogenesis

Phenylketonuria

Clinical Presentation

Types of

Neonatal Screening

Newborn screening

3

Definition:

  • The most common disorder of amino acid metabolism
  • An autosomal recessive disorder
  • Defect in phenylalanine metabolism due to enzyme (PAH) or cofactor (BH4) deficiency .

Saudi Newborn Screening (NBS) Program for Metabolic Diseases

Hearing Screening

2

1

Pathogenesis

Genetic screening

Biochemical Screening (Guthrie Test)

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

CONGENITAL HYPOTHYROIDISM

Neonatal Hearing Screening

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)

Thalassemia

Technical Aspects of Newborn Screening Tests Blood-collection-paper Samples

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.

Common disorder

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