What is My Baby Being Screened For

8/3/2019 What is My Baby Being Screened For

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What is my baby being screened for?

Is it really necessary to screen my baby?

How is Newborn Screening administered?

Is NBS compulsory?

Ideally, your baby undergoes Newborn Screening (NBS) within three days of his birth. NBS will be able to tell if your

baby was born with any metabolic disorders that will affect his body's normal processes and functions.

What is my baby being screened for?

Currently, NBS tests for five disorders:

• Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

A condition where the body lacks the enzyme called G6PD. The deficiency may cause hemolytic anemia, when the

body is exposed to oxidative substances found in certain drugs, foods and chemicals. Parents of G6PD-positive

babies receive a list of these substances from their doctor.

While this is the mildest disorder that is covered in NBS, it is the most common: One out of 55 babies may be

affected. Read more in our article on G6PD deficiency .

• Congenital Hypothyroidism

This is a lack of thyroid hormone, which your baby needs to grow. Treatment is required within the first four weeks of

a baby's life to prevent stunted physical growth and mental retardation. One out of 3,369 babies is at risk.

• Congenital Adrenal Hyperplasia

An endocrine disorder that causes severe salt loss, dehydration and abnormally high levels of male sex hormones.

Left undetected and untreated, it can be fatal within seven to 14 days. One in 7,960 babies is at risk.

• Galactosemia

A condition in which babies cannot process the sugar present in milk (galactose). This leads to increased galactose

levels in the body, which leads to liver and brain damage. It also causes cataracts to develop. One in 82,250 babies

may be affected.

http://www.babycenter.com.ph/baby/newborn/newbornscreening/#2








http://www.babycenter.com.ph/baby/health/g6pd-deficiency/










• Phenylketonuria

A condition where the body does not properly use the enzyme phenylalanine, which may lead to brain damage. One

in 109,666 babies may be at risk.

Is it really necessary to screen my baby?

It is crucial that these disorders are detected as early as possible. An affected baby looks healthy at birth because

symptoms do not begin to show until weeks or months later. Once the signs and symptoms set in, the ill effects are

often already permanent. If these conditions are left untreated, they may cause health complications or inhibit mental

development. In the most serious cases, they can cause death.

The Philippine Newborn Screening Project says that 33,000 children out of the two million Filipino babies born yearly

are at risk from these disorders.

Fortunately, children diagnosed with any of these disorders can continue to live normal and healthy lives as long as

they are treated in time and they consistently follow up with a specialist.

How is Newborn Screening administered?

Your baby will be pricked at the heel. Three drops of blood will be taken for testing.

A negative screen means that results are normal. A positive screen will require the baby to undergo further testing by

a pediatrician. Parents are oriented about their child’s condition through the National Institutes of Health (at the

Philippine General Hospital). Parents will be notified through mail and through their attending doctors about positive

results, and will be required to undergo the orientation and further testing at the NIH.

Is NBS compulsory?

The Department of Health and other health organizations strongly recommend that all babies undergo Newborn

Screening. Most tertiary centers are accredited Newborn Screening testing centers. If a baby is delivered at home or

in a primary health care setting or lying in, the baby can be brought to the nursery of any accredited center after the

48th hour of life for testing (on out - patient basis).

Sometimes, parents decline for various reasons, such as religious concerns. In these cases, they are asked to



acknowledge in writing that they understand the benefits of NBS and that they know they may be placing their

newborn at risk for undiagnosed congenital conditions by declining the test. This dissent form is included in the baby's

medical record and is recorded in the National Newborn Screening Database.

Newborn screening tests

Every state and U.S. territory routinely screens newborns for certain genetic, metabolic, hormonal and

functional disorders. Most of these birth defects have no immediate visible effects on a baby. However,

unless detected and treated early, these disorders can cause physical problems, mental retardation and, in

some cases, death.

"Screening" means testing to see if a baby is more likely than other babies to have a disorder. Newborn

screening tests don’t tell if a baby definitely has a disorder. That kind of test is called a "diagnostic" test. If a

baby’s screening tests show abnormal results, it does not mean the baby definitely has a disorder. It means

that diagnostic testing is needed.

Fortunately, most babies get a clean bill of health when tested. However, about 5,000 babies each year are

found to have these serious conditions and more than 12,000 to have hearing impairment. In cases like

these, early diagnosis and proper treatment can make the difference between healthy development and

lifelong disability.

How many disorders is a baby likely to be screened for?Nearly all babies born in the United States live in states that require screening for 21 or more disorders.

Each state or region operates its own newborn screening program. State programs vary in the number and

types of conditions for which they test, with some states testing for 21 conditions and others for 50 or more.

The March of Dimes would like to see all babies in all states screened for at least 29 specific disorders, for

which effective treatment is available. This March of Dimes recommendation is based on endorsement of a

report by the American College of Medical Genetics urging screening for the 29 disorders. Currently, 30

states screen for all 29 disorders.

Parents can find out which tests are routinely done in their state by asking their health care provider or state

health department. They also can visit the National Newborn Screening and Genetics Resource Center Web

site atwww.genes-r-us.uthscsa.edu/nbsdisorders.pdf . This site lists commercial and nonprofit laboratories

that provide comprehensive newborn screening for parents considering having their baby tested for more

disorders than those screened for by their state.

What are some of the disorders for which babies are screened?Phenylketonuria (PKU). The test for PKU was the nation’s first newborn screening test. Developed with

the help of the March of Dimes, it has been routinely administered since the 1960s. PKU affects about 1

baby in 25,000. Babies with the disorder cannot process part of a protein called phenylalanine, which is

found in nearly all foods. Without treatment, phenylalanine builds up in the bloodstream and causes brain

damage and mental retardation.

When PKU is detected early, mental retardation can be prevented by feeding the baby a special formula that

is low in phenylalanine. This low-phenylalanine diet generally needs to be followed throughout the baby’s

entire life. Women of childbearing age with PKU need to stay on the low-phenylalanine diet before and

during pregnancy. Women with high levels of phenylalanine in their blood are at high risk of having a baby

with mental retardation and heart defects.

http://www.genes-r-us.uthscsa.edu/nbsdisorders.pdf






Congenital hypothyroidism (CH). CH is one of the most common disorders identified by newborn

screening. It affects at least 1 baby in 5,000. CH is a thyroid hormone deficiency that slows growth and

brain development. If it is detected in time, a baby can be treated with oral doses of thyroid hormone to

permit normal development.

Galactosemia. This disorder, which affects about 1 baby in 50,000, can cause blindness, mental retardation

and even death in infancy. A baby with galactosemia is unable to convert galactose (a sugar in milk) into

glucose (a sugar the body uses as an energy source). The treatment for galactosemia is to eliminate milk

and all other dairy products from the baby’s diet; this dietary restriction is lifelong.

Sickle cell disease. This inherited blood disorder affects at least 1 in 5,000 of all babies in the United

States. This includes 1 in 1,100 Hispanic babies born in the eastern United States and about 1 in 400

African-American babies nationwide. The disorder can cause anemia, pain, damage to vital organs and,

sometimes, death in childhood. Young children with sickle cell anemia are especially prone to dangerous

bacterial infections, such as pneumonia and meningitis. Vigilant medical care and early treatment with

penicillin, beginning in infancy, can dramatically reduce serious complications and death.

Congenital adrenal hyperplasia (CAH). CAH is a group of disorders in which there is a deficiency of

certain hormones, sometimes affecting genital development. It occurs in about 1 in 25,000 babies. In severe

cases, CAH can cause life-threatening salt loss from the body. Affected individuals receive lifelong treatment

with the missing hormones.

Biotinidase deficiency. This disorder, which affects about 1 baby in 75,000, can cause seizures, mental

retardation, movement problems, hearing loss and, sometimes, coma and death. These symptoms result

from an inherited lack of an enzyme that recycles the vitamin biotin. When detected in time, problems can

be prevented with biotin supplementation.

Hearing impairment. Moderate-to-severe hearing impairment affects about 1 to 3 in 1,000 newborns.

Without testing, most babies with hearing impairment are not diagnosed until 2 or 3 years of age. By this

time, they often have delayed speech and language development. Early identification of hearing impairment

in the newborn allows the baby to be fitted with hearing aids before 6 months of age, helping prevent

serious speech and language problems.

What other disorders can newborn screening detect?Advances in technology, such as tandem mass spectrometry, make it possible to screen for about 55

disorders. In addition to the 29 treatable disorders, the March of Dimes recommends that states report

screening results of 25 “secondary target” conditions. Treatment for these additional disorders generally is

not yet available.

The 29 treatable disorders are grouped into five categories:

1. Organic acid metabolism disorders: Each disease in this group of inherited disorders results from the

loss of activity of an enzyme involved in the breakdown of amino acids, the building blocks of proteins, and

other substances (lipids, sugars, steroids). When any of these chemicals is not properly broken down, toxic

acids build up in the body. Without treatment, these disorders can result in coma and death during the first

month of life. These disorders are:

IVA (isovaleric acidemia)

GA I (glutaric acidemia)

HMG (3-hydroxy 3-methylglutaric aciduria)

MCD (multiple carboxylase deficiency)

MUT (methylmalonic acidemia, mutase deficiency)

3MCC (3-methylcrotonyl-CoA carboxylase deficiency)

Cbl A,B (methylmalonic acidemia)

PROP (propionic acidemia)



BKT (beta-ketothiolase deficiency)

2. Fatty acid oxidation disorders: This group of disorders is characterized by inherited defects of

enzymes needed to convert fat into energy. When the body runs out of glucose (sugar), it normally breaks

down fat to support production of alternate fuels (ketones) in the liver. Because individuals with these

disorders have a block in this pathway, their cells suffer an energy crisis when they run out of glucose. This

most often occurs when an individual is ill or skips meals. Without treatment, the brain and many organscan be affected, sometimes progressing to coma and death. These disorders are:

MCAD (medium-chain acyl-CoA dehydrogenase deficiency)

VLCAD (very long-chain acyl-CoA dehydrogenase deficiency)

LCHAD (long-chain L-3-OH acyl-CoA dehydrogenase deficiency)

TFP (trifunctional protein deficiency)

CUD (carnitine uptake defect)

3. Amino acid metabolism disorders: This is a diverse group of disorders with varying degrees of

severity. Some individuals lack enzymes that are needed to break down amino acids. Others have

deficiencies in enzymes that help the body rid itself of nitrogen in amino acid molecules. Toxic levels of

amino acids or ammonia can build up in the body, causing a variety of signs and symptoms, and even

death. These disorders are:

PKU (phenylketonuria)

MSUD (maple syrup urine disease)

HCY (homocystinuria due to cystathionine beta-synthase [CBS] deficiency)

CIT (citrullinemia)

ASA (argininosuccinic acidemia)

TYR I (tyrosinemia type I)

4. Hemoglobinopathies: These inherited diseases of red blood cells result in varying degrees of anemia

(shortage of red blood cells) and other health problems. The severity of these disorders varies greatly from

one person to the next. These disorders are:

Hb S/S (sickle cell anemia) Hb S/A (hemoglobin S/beta-thalassemia)

Hb S/C (hemoglobin S/C disease)

5. Others: This mixed group of disorders includes some diseases that are inherited and others that are not.

The disorders vary greatly in severity, from mild to l ife-threatening. These disorders are:

CH (congenital hypothyroidism)

BIO (biotinidase deficiency)

CAH (congenital adrenal hyperplasia due to 21-hydroxylase deficiency)

GALT (classical galactosemia)

HEAR (hearing loss)

CF (cystic fibrosis)

How are screening tests done?A blood test can detect all of these disorders, except for hearing impairment. A health care provider pricks

the baby’s heel to obtain a few drops of blood for laboratory analysis. One blood sample can be used to

screen for 55 or more disorders. Usually, the baby’s blood specimen is sent to a state laboratory for testing,

and results are sent to the health care provider responsible for the infant’s care. If the tests show abnormal

results, diagnostic testing is needed.



Babies are screened for hearing impairment with one of two tests that measure how the baby responds to

sounds. These tests are done in the hospital newborn nursery, using either a tiny soft earphone or

microphone that is placed in the baby’s ear. If either of these tests shows abnormal results, the baby needs

more extensive hearing testing to see if he does have hearing loss.

How soon after birth should screening tests be done?

Every newborn should be screened before hospital release, usually at 24 to 48 hours of life. Some of thetests may not give accurate results if they are done too soon after birth. However, because of early hospital

discharge, some babies are tested within the first 24 hours of life. Therefore, some states routinely screen

twice, in the newborn nursery and again about 2 weeks later. Most babies also have a hearing test before

they are discharged from the hospital. Babies born outside the hospital should have newborn screening tests

before the seventh day of life.

What does an abnormal test result mean?Parents should not be overly alarmed by abnormal test results. The initial screening tests give only

preliminary information that must be immediately followed by more precise testing. These follow-up tests

usually show that the baby is healthy and does not have the disorder.

What should a parent do if his child is diagnosed with one of the conditions?The child may need follow-up treatment at a pediatric center that specializes in children with these

conditions. It is essential for the child’s healthy development that parents follow the health care provider’s

treatment recommendations. As the child grows, he may need careful, continued evaluations and

monitoring.

If one child in a family has a disorder, will other children have it, too?Almost all the disorders detected by newborn screening are inherited. The exceptions are congenital

hypothyroidism and, in some cases, hearing impairment.

When one child in a family is affected by one of the inherited disorders, the chance of the same birth defect

occurring in a sibling is 1 in 4. The chances remain the same with each pregnancy. Parents can discuss their

risk of having another affected child with their health care provider or a genetic counselor. These disorders

are inherited when both parents have the same abnormal gene and pass it on to their baby. A parent who

has the abnormal gene, but not the disease, is called a carrier. The health of a carrier is rarely affected.

Hearing loss can be inherited. However, there are other causes of hearing loss that are not inherited, such

as infections that are passed to the baby during pregnancy or birth. Hearing loss caused by something like

an infection is not likely to recur in another pregnancy.

Congenital hypothyroidism usually is not inherited from parents. The siblings of those who have this disorder

are seldom affected.

Does the March of Dimes fund research and other programs on newborn screening?

The March of Dimes has long supported research, professional and consumer education, and advocacy

related to newborn screening. In the 1960s, a March of Dimes grantee developed the first PKU screening

test. Other grantees developed screening tests for biotinidase deficiency and congenital adrenal hyperplasia

and contributed to the development of testing for hypothyroidism. The March of Dimes also funds research

aimed at improving the treatment of children with a number of the screened disorders. For many years, theMarch of Dimes has worked to expand and improve newborn screening programs through its advocacy

efforts. For example, the March of Dimes was instrumental in the passage of the 2008 Newborn Screening

Saves Lives Act, which lays the groundwork to establish national guidelines on what conditions should be

tested and authorizes funding for states to strengthen their existing programs.

Have questions?



Common questions

Does the March of Dimes provide information about birth defects?

More on this topic Agnes Higgins award, maternal-fetal nutrition

Scholarships, grants and awards promote and reward excellence

Program grants

Related topics Professional education

Info for your patients

Product catalog

Perinatal statistics

Local Chapters | March for Babies | Prematurity Campaign | Share your Story | Corporate Partners

NEWBORN SCREENING

SEC. 5. Obligation to Inform. - Any health practitioner who delivers, or assists in the delivery, of anewborn in the Philippines shall, prior to delivery, inform the parents or legal guardian of thenewborn of the availability, nature and benefits of newborn screening. Appropriate notification andeducation regarding this obligation shall be the responsibility of the Department of Health (DOH).

SEC. 6. Performance of Newborn Screening. - Newborn screening shall be performed aftertwenty-four (24) hours of life but not later than three (3) days from complete delivery of the newborn.A newborn that must be placed in intensive care in order to ensure survival may be exempted fromthe 3-day requirement but must be tested by seven (7) days of age. It shall be the joint responsibilityof the parent(s) and the practitioner or other person delivering the newborn to ensure that newbornscreening is performed. An appropriate informational brochure for parents to assist in fulfilling thisresponsibility shall be made available by the Department of Health and shall be distributed to all

http://www.marchofdimes.com/professionals/faq_resourcesbirthdefects.html


http://www.marchofdimes.com/professionals/grants_higginsaward.html


http://www.marchofdimes.com/professionals/grants.html


http://www.marchofdimes.com/professionals/grants_program.html


http://www.marchofdimes.com/professionals/education.html


http://www.marchofdimes.com/professionals/patients.html


http://www.marchofdimes.com/catalog


http://www.marchofdimes.com/peristats


http://www.marchofdimes.com/contactus/contactus.html


http://marchforbabies.org/



http://www.marchofdimes.com/mission/prematurity_wpd.html



http://shareyourstory.org/



http://www.marchofdimes.com/partnersandsponsors/partnersandsponsors.html



http://www.marchofdimes.com/giving/support_general.html

http://www.youtube.com/marchofdimes

http://twitter.com/marchofdimes

http://www.facebook.com/marchofdimes




































health institutions and made available to any health practitioner requesting it for appropriatedistribution.

SEC. 7. Refusal to be Tested. - a parent or legal guardian may refuse testing on the grounds ofreligious beliefs, but shall acknowledge in writing their understanding that refusal for testing placestheir newborn at risk for undiagnosed heritable conditions. A copy of this refusal documentation shall

be made part of the newborn's medical record and refusal shall be indicated in the national newbornscreening database.

SEC. 8. Continuing Education, Re-education and Training Health Personnel. - The DOH, withthe assistance of the NIH and other government agencies, professional societies and non-government organizations, shall: (i) conduct continuing information, education, re-education andtraining programs for health personnel on the rationale, benefits, procedures of newborn screening;and (ii) disseminate information materials on newborn screening at least annually to all healthpersonnel involved in material and pediatric care.

SEC. 9. Licensing and Accreditation. - The DOH and the Philippine Health Insurance Corporation(PHIC) shall require health institutions to provide newborn screening services as a condition for

licensure or accreditation.

Newborn Screening

What is Newborn Screening?

Newborn Screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder 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. One will never know that the baby has the disorder until the

onset of signs and symptoms and more often ill effects are already irreversible.

When is Newborn Screening done?

Newborn screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not

detected if the test is done earlier than 24 hours. The baby must be screened again after 2 weeks for more accurate

results.

How is Newborn Screening done?

Newborn screening is a simple procedure. Using the heel prick method, a few drops are taken from the baby's

heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn

Screening Laboratory. (NBS Lab).

Who will collect the sample for Newborn Screening?

A physician, a nurse, a midwife or medical technologist can do the newborn screening.

Where is Newborn Screening Available?



Newborn screening is available in practicing health institutions (hospitals, lying-ins, Rural Health Units and Health Centers).

If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.

When is the Newborn Screening results available?

Newborn screening results are available within three weeks after the NBS Lab receives and tests the samples sent by the

institutions. Results are released by NBS Lab to the institutions and are released to your attending birth attendants or

physicians. Parents may seek the results from the institutions where samples are collected.

A negative screen mean that the result of the test is normal and the baby is not suffering from any of the disorders being

screened.

In case of a positive screen, the NBS nurse coordinator will immediately inform the coordinator of the institution where the

sample was collected for recall of patients for confirmatory testing.

What should be done when a baby has a positive newborn screening result?

Babies with positive results should be referred at once to the nearest hospital or specialist for confirmatory test and further

management. Should there be no specialist in the area, the NBS secretariat office will assist its attending physician.

Source: doh.gov.ph

Note: This was a community health nursing board question last June. The one that I italicized were the answers to the

questions asked. So I advice you guys especially those taking the December exam to be abreast with the new laws

affecting the practice of nursing profession in the Philippines.

In regards with the health statistics, try to be familiar still with the 1998 health statistics in your DOH book because this

came out last June 2006 board (I was really disappointed because what I knew was already the present health statistics;

but thanks God coz I still manage to get 3 out of the 5 questions asked).

What is Newborn Screening?

Newborn screening is the process of testing newborn babies for

treatable genetic,endocrinologic, metabolic and hematologic diseases.[1][2] Robert Guthrie is

given much of the credit for pioneering the earliest screening for phenylketonuria in the late

1960s usingblood samples on filter paper obtained by pricking a newborn baby's heel on

the second day of life to get a few drops of blood. [3] Congenital hypothyroidism was the

second disease widely added in the 1970s.[4]

The development of tandem massspectrometryscreening by Edwin Naylor and others in the early 1990s led to a large

expansion of potentially detectable congenital metabolic diseases that affect blood levels of

organic acids.[5] Additional tests have been added to many screening programs over the last

two decades. Newborn screening has been adopted by most countries around the world,

though the lists of screened diseases vary widely.

Newborn Screening Program In The Philippines

http://en.wikipedia.org/wiki/Genetic_disorder


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http://en.wikipedia.org/wiki/Inborn_error_of_metabolism



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http://en.wikipedia.org/wiki/Robert_Guthrie



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The following tests are mandated in the R.A. 9288 or Newborn Screening program of

2004.Newborn screening is available in practicing health institutions (hospitals, lying-ins,

Rural Health Units and Health Centers) with cooperation with DOH. If babies are delivered

at home, babies may be brought to the nearest institution offering newborn screening. A

negative screen mean that the result of the test is normal and the baby is not suffering from

any of the disorders being screened. In case of a positive screen, the NBS nursecoordinator will immediately inform the coordinator of the institution where the sample was

collected for recall of patients for confirmatory testing. Babies with positive results should be

referred at once to the nearest hospital or specialist for confirmatory test and further

management. Should there be no specialist in the area, the NBS secretariat office will assist

its attending physician. Disorders Screened:

Heel Prick Method for the newborn screening CH (Congenital hypothyroidism) - is a condition of thyroid hormone deficiencypresent at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroidfunction, while even more have mild or partial degrees. If untreated for several months afterbirth, severe congenital hypothyroidism can lead to growth failure and permanent mentalretardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth.

Because the treatment is simple, effective, and inexpensive, nearly all of the developedworld practices newborn screening to detect and treat congenital hypothyroidism in the firstweeks of life.

CAH (Congenital adrenal hyperplasia) - refers to any of several autosomal recessivediseases resulting from mutations of genes for enzymes mediating the biochemical steps ofproduction of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most ofthese conditions involve excessive or deficient production of sex steroids and can alterdevelopment of primary or secondary sex characteristics in some affected infants, children,or adults. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.

GAL (Galactosemia) - is a rare genetic metabolic disorder which affects anindividual's ability to properly metabolize the sugar galactose. Lactose in food (such as dairy

products) is broken down by the body into glucose and galactose. In individuals withgalactosemia, the enzymes needed for further metabolism of galactose are severelydiminished or missing entirely, leading to toxic levels of galactose to build up in the blood,resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, and braindamage. Without treatment, mortality in infants with galactosemia is about 75%.

PKU (Phenylketonuria) - is an autosomal recessive genetic disorder characterizedby a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessaryto metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is

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deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known asphenylketone), which is detected in the urine. PAH is found on chromosome number 12.Leftuntreated, this condition can cause problems with brain development, leading toprogressive mental retardation and seizures. However, PKU is one of the few geneticdiseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine canbe a very effective treatment. There is no cure. Damage done is irreversible so earlydetection is crucial.

G6PD Deficiency - is an X-linked recessive hereditary disease characterized byabnormally low levels of the glucose-6-phosphate dehydrogenase enzyme (abbreviatedG6PD or G6PDH). It is a metabolic enzyme involved in the pentose phosphate pathway,especially important in red blood cell metabolism.

Newborn screening results are available within three weeks after the NBS Labreceives and tests the samples sent by the institutions. Results are released by NBS Lab tothe institutions and are released to your attending birth attendants or physicians.Parentsmay seek the results from the institutions where samples are collected. ChristianNieto,EACSN

http://en.wikipedia.org/wiki/G6PD_Deficiency


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What is My Baby Being Screened For