Question 1

is it necessary to have a confirmatory test if  found positive in g6pd newborn screening?

Accepted Answer

Usually not...: If a baby is found to have g6pd deficiency on newborn screening, it usually means that the infant actually has it. The test can be falsely negative in certain circumstances, but a positive test is usually accurate. That being said, different states use different tests. I would 1st talk with your pediatrician about this, then they may refer you to hematologist to get guidance on living with g6pd.

Question 2

pls help me my son had a born screen.  how can we notice that my son have g6pd deficiency in what value. thanks

Accepted Answer

G6PD testing...: If your doctors suspects g6pd deficiency based on symptoms and other tests (liver values) he/she can order  a direct test, the "beutler fluorescent spot test".

Question 3

can you please tell me about the 3 tests in newborn screening for galactosemia?

Accepted Answer

See below: There are three types of galactosemia-classic one and two variants. GALT, galactose-1-p uridyl transferase deficiency results in classic form whereas galactokinase deficiency (GLK) and galactose-4-epimerase deficiency leads to variants.

Question 4

what screening tests do newborns get?

Accepted Answer

Many screens.: In most states, newborns are screened for elevated blood pressure, congenital cyanotic heart disease (with oxygen level), jaundice and hearing loss in the hospital.  At 48 hours of age (in indiana), a newborn screen is done with heelstick and tests for sickle cell and other anemias, thyroid disease, metabolic disorders, including pku and cystic fibrosis.  Some (not all) infants have a blood type.

Question 5

what is a hearing screening for newborns?

Accepted Answer

Screen for problems: Many states require infant hearing screening tests before your newborn leaves the hospital.  These are done to detect any difficulties your baby may have with hearing early on so that proper therapies can be initiated as soon as possible.  However many babies do not pass this initial screening and are not deaf.  They simply need to repeat the test once discharged and many will then pass.

Question 6

how often will newborn screening need retested?

Accepted Answer

Varies: In my state a screening is obtained prior to hospital discharge and again at a week or more. This will pick up the majority of issues including those that can be distorted by lack of early feeding activity(pku). Later testing is usually limited to specific tests for any suspected problem.

Question 7

how often could newborn screening need retested?

Accepted Answer

Newborn screen: Usually it is done twice. Day 1 & 14.

Question 8

would a pulse ox screening done on a newborn within 24 hrs. detect an asd?

Accepted Answer

Not necessarily: The ASD may  or may not produce the type of changes in blood oxygen content needed to be picked up on this type of screen. The size of the defect is variable.Detection of specific heart sounds might bring the proper studies to confirm this defect.

Question 9

is pku newborn screening is required in all 50 u.s. states as well as canada?

Accepted Answer

USA: All states in the US require PKU newborn screening blood testing. Canada has been performing the test since 1960.

Question 10

can any docs elaborate about the 3 tests in newborn screening for galactosemia?

Accepted Answer

3 tests?: Can you be more specific?  Newborn screening varies from state to state.  In my state, only 1 test is done to screen for galactosemia.  If it comes back positive, then additional tests are done to confirm diagnosis.

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Doctor answers about:

G6pd screening in newborn

A member asked:

Is it necessary to have a confirmatory test if found positive in g6pd newborn screening?

A member asked:

Pls help me my son had a born screen. how can we notice that my son have g6pd deficiency in what value. thanks

A member asked:

Can you please tell me about the 3 tests in newborn screening for galactosemia?

A member asked:

What screening tests do newborns get?

A member asked:

What is a hearing screening for newborns?

A member asked:

How often will newborn screening need retested?

A member asked:

How often could newborn screening need retested?

A member asked:

Would a pulse ox screening done on a newborn within 24 hrs. detect an asd?

A member asked:

Is pku newborn screening is required in all 50 u.s. states as well as canada?

A member asked:

Can any docs elaborate about the 3 tests in newborn screening for galactosemia?

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