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Newborn Screening

Newborn Screening

Why?To save babies health by prevention of

brain damage, severe illness or deathHow?

By identifying affected babies early before the first symptoms appear

GoalComplete and early pick up of every newborn with treatable endocrine and

metabolic diseases

Criteria of the disease

• Relatively frequent within the population

screened

• Causing severe health impairment or death

• Effective treatment or prevention strategy is

available

Criteria of the test

•Acceptable

•Easy

•Rapid

•Sensitive ( very low false negatives)

•Specific ( very low of false positives)

•Cheap ( cost-effective)

Diseases included in our screening

Our screening panel include 22 disorders

detected by 2 different analytical methods :

5 Disorders detected by DELFIA System

17 Disorders detected by MS/MS System

Disorders detected by DELFIA

Congenital hypothyroidism (CH)

Phenylketonuria (PKU)

Congenital Adrenal Hyperplasia (CAH)

Galactosemia

Biotinidase Deficiency

Disorders detected by MS/MS

Aminoacidopathies

ASA,CIT,PKU,MSUD,HCYS,TYR-1

Organic Acidemias

MMA,PPA,MCD,MCC,IVA,PKT,GA-1,HMG

Fatty Acid Oxidation Defects

MCAD,VLCAD,LCHAD,TFPD

The ideal sample should

be collected between (48-72hour) of age; 24 hours at a minimum.

Time of Newborn Screening

Sample collection

If the baby discharged home before 24 hour of age, the first sample should be collected before discharge and a clear instructions has to be given to the parents by regarding the importance of repeating the test up to one week and provide them with a referral form to the Newborn Screening office to collect another sample

Clinical presentation

of some disorders

included in screening panel

Congenital hypothyroidism (CH) is acondition of thyroid hormone deficiencypresent at birth.• Incidence of (CH) is about 1 in 4000• If untreated congenital hypothyroidism canlead to growth failure and permanent mentalretardation.• Treatment consists of a daily dose of thyroidhormone (thyroxine).• Because the treatment is simple, effective,and inexpensive, nearly all developedcountries practices newborn screening todetect and treat congenital hypothyroidism inthe first weeks of life.

Phenylketonuria (PKU) is inherited

metabolic disease caused by a deficiency in

phenylalanine hydroxylase (PAH) enzyme ,

which is necessary to metabolize the amino

acid phenylalanine to the amino acid tyrosine.

•If untreated, phenylalanine accumulates in

the body and can result in neurological

problems, including mental retardation and

seizures. early and effective treatment can

lead to normal development and a normal life

span.

•Babies who are diagnosed with PKU must

immediately be put on a special milk formula

(phenylalanine free )

Newborn Screening

Specimen Collection

• The Specimen Collection Form

• Blood Sample Collection

The Specimen Collection Form

Blood Specimen collection card )Front side)

Blood Specimen collection card )Back side)

Completing the Newborn Screening Card

It is extremely important to fill out the NBScard completely and accurately.

The specimen submitter is legally responsiblefor the accuracy and completeness of theinformation on the NBS card.

Press firmly using a black or blue pen andrecord the following information in the spacesprovided:

INFANT INFORMATION

• INFANT'S NAME

• GENDER

• BIRTH DATE

• BIRTH TIME

• BIRTH WEIGHT INGRAMS

• GESTATIONAL WEEKS

• MULTIPLE BIRTH ORDER: indicate I,II or III

• SPECIMEN DATE

• COLLECTION TIME

• COLLECTED BY: Record initials

• MEDICAL RECORD NUMBER BABY: Record the

birth hospital's identification or medical record number.

• NATIONALITY

• RBC TRANSFUSION: Record date and the time

• ANY TPN FEEDING: breast/bottle feeding (indicate the

type of formula)

• OTHERS: TOTAL PARENTRAL NUTRITION(TPN)/ANTIBIOTICS: For the 24-36 hour specimen, check

“antibiotics” if the newborn is currently receiving antibioticsor the mother was receiving ongoing antibiotics at the time ofbirth

• Stamp of (2nd card sample) if the sample confirmatory

MOTHER INFORMATION

• MOTHER'S NAME: Record last name followed by first name.

• MOTHER'S HOSPITAL NUMBER

• MOTHER'S ADDRESS

• MOTHER'S PHONE:

Record mother's mobile and home telephone number.

• BIOHAZARD CONDITIONS/

INFECTIOUS DISORDER : Record if the mother is

having HEPATITIS, AIDS OR OTHER to deal with the sample according to the approved standard protocol

SUBMITTER INFORMATION

• SUBMITTER NAME: Record the name of the submitter

(this should be the birth hospital on all initial newbornscreens) and indicate if the newborn was in the NICU No. ,SCU No. , WARD No. or Newborn Screening Office at the timethe specimen was collected. Also record their contacttelephone No.

• SUBMITTER ADDRESS: Record the submitter’s street

address followed by the city, state and zip code.

• SUBMITTER PHONE: Record submitter’s area code and

phone number.

• BIRTH HOSPITAL: Record name of the birth hospital

here only if different from the submitter.

Blood Sample Collection

Necessary Equipment

•Sterile lancet with tip

(2.0 – 2.40 mm)

•sterile alcohol prep

•sterile gauze pads

•soft cloth

•blood collection form

•gloves

Increase Blood Flow

Wrap a warmed, moist

towel around the heel

puncture site for 3 to 5

minutes.

Positioning the infant with

feet lowered below the heart

will help to increase blood

flow.

Clean & Dry

Cleanse site with sterile

alcohol pad.

Allow site to air dry.

(Alcohol residue left on the

skin may dilute the specimen

and affect test results)

Puncture Site

Hatched area indicates

safe areas for puncture

site.

Puncture

Position a sterile

disposable lancet (2.0 –

2.4 mm tip) or an

automatic lancet at a

slight angle to perform a

swift clean puncture.

Wipe away the first drop

of blood with dry sterile

gauze.

Fill Circle

Allow a second large

drop of blood to form.

Lightly touch blood drop

to filter paper.

Allow blood to soak

through and completely

fill circle.

Fill Remaining Circles

Fill remaining circles

with successive blood

drops.

If blood flow slows,

repeat procedure

selecting a different site

and using sterile

equipment.

Why are so many specimens marked unsatisfactory when I can see plenty of

blood in the circles?

There must be an even penetration of blood for the

test to be accurate. This means soaking through the

filter paper with one application and filling the

whole circle so the blood is evenly distributed on

both sides of the filter paper.

Apply blood to one side of the filter paper only, allowing full saturation of each circle before proceeding to the next circle.

To enhance blood flow during collection, very gentle intermittent pressure may be applied to the area surrounding the puncture site.

Excessive “milking” causes an admixture of tissue fluids with the blood specimen, invalidating the specimen.

Do not layer successive small drops of bloodon top of each other. Let each drop touch thepaper about 1/8 inch away from the previousone. This prevents layering of the paper, whichis one cause of unsatisfactory results.

Drying Specimen

Allow the blood specimens

to air-dry for at least 4

hours in a horizontal

position on the especially

designed rack away from

heat or direct sunlight.

Do not refrigerate the samples or put in plastic sleeves. (Plastic sleeves allow accumulation of condensation and can contribute to contamination, elution, and bleeding of the blood spots).

Check samples for Validity Of testing For Newborn Screening

All the circles are filled Properly saturated (Both sides) Dry No clotting or layering of blood drops or serum rings around specimen

1- Specimen Quantity insufficient for

testing.

- Removing filter paper before blood has

completely filled circle or before blood has

soaked through to second side.

- Applying blood to filter paper with a capillary

tube.

- Allowing filter paper to come in contact with

gloved or ungloved hands or substances such

as hand lotion or powder, either before or

after blood specimen collection.

Invalid specimen

2- Specimen appears scratched or

abraded.Applying blood with a capillary tube

or other device.

3- Specimen not dry before

mailing.

Mailing specimen before drying for a

minimum of four hours.

Invalid specimen

4- Specimen appears supersaturated.

- Applying excess blood to filter paper,

usually with a device.

- Applying blood to both sides of filter

paper.

5- Specimen appears diluted, discolored

or contaminated.

- Squeezing or “milking” of area

surrounding the puncture site.

- Allowing filter paper to come in contact

with gloved or ungloved hands or

substances such as alcohol.. etc., either

before or after the blood specimen

collection.

- Exposing blood spots to direct heat.

6- Specimen exhibits serum rings.

- Not wiping alcohol from puncture site

before making skin puncture.

- Allowing filter paper to come in contact

with alcohol, hand lotion, etc.

- Squeezing area surrounding puncture site

excessively.

- Drying specimen improperly.

- Applying blood to filter paper with

Capillary tube.

7- Specimen appears clotted or layered.

- Touching the same circle on filter paper

to blood drop several times.

- Filling circle on both sides of filter

Paper.

Place dried specimen collection

form in paper envelope and mail

within 24 hours.

NBS Flowchart

Lithium

heparinze

blood

Tyrosin , C5

C5OH , C5DC, C3

Phenylanine

C16OH

C8

C14:1

Isoleucine/leucine

Methionine

Homocystine

citrulin

TSH

17OH proges.

GALT

Biotinidase

+

+

Lithium

heparinze

blood

Plain

tube

EDTA

blood

+

Sample collection and Newborn Screening recommendations for Preterm, Low Birth Weight and

sick Newborns

• The NOS neonatologist should communicatethe positive result to the assignedneonatologist at NICU/SCU.

• The assigned neonatologist at NICU/SCUshould watch for signs of conditions, even if

screening results are normal.

Role of the Newborn Screening Office Nurses

Gathering of Newborn Screening Samples fromlabour room, postnatal wards, NICU, SCU andNewborn Screening Office.

Assuring validity of samples for testing beforedelivery of samples to transportation personnel.

Collecting samples in the specified envelope.

Delivery of samples to newborn screeningtransportation personnel with registration inregistration book of data of each sample and totalno. of valid samples delivered with date and time.

Recall of positive screen.