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Doctor insights on: Newborn Screening

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Dr. Alfredo Garcia
39 doctors shared insights

Newborn Screening (Overview)

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.


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How often will newborn screening need retested?

How often will newborn screening need retested?

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. ...Read more

Dr. Alfredo Garcia
39 doctors shared insights

Newborn Screening (Overview)

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.


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How often could newborn screening need retested?

How often could newborn screening need retested?

Which screening ??: Metabolic screening is usually done after 24 hours and again after a week. Further study is not indicated unless a clinical indication arised.Hearing screening is generally done at any point prior to hospital discharge and repeated until the kid passes or a decision is made for a more specific test. Hearing is also screened at any future point if a parent has concerns that the kid is not hearing. ...Read more

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Can you tell me how to find nys newborn screening records?

Two ways.: Contact the newborn's pediatrician. Or contact Newborn Screening Program New York State Department of Health Wadsworth Center Empire State Plaza PO Box 509 Albany, NY 12201-0509 Phone: 518-473-7552 nbsinfo@health.state.ny.us http://www.wadsworth.org/newborn/ ...Read more

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

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

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. ...Read more

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Is pku newborn screening is required in all 50 u.S. States as well as canada?

Is pku newborn screening is required in all 50 u.S. States as well as canada?

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

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

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

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. ...Read more

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

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. ...Read more

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Is ga-1 metabolic disorder part of newborn screening in pennsylvania?

Yes: Glutaric acidemia type 1 is part of the pa newborn screening. Please discuss those results with your pediatrician if you have concerns. ...Read more

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What can you mean if the result of g6pd in newborn screening is deficient?

What can you mean if the result of g6pd in newborn screening is deficient?

More information nee: Infant my have increased bilirubin (jaundice) or may also have infection and anemia. Infant may also be normal. Check with baby's physician! ...Read more

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What does it mean if the result of g6pd in newborn screening is deficient?

Ped cell lifespan: Red cells are made without nuclei & carry a limited set of enzymes to convert sugar to energy & maintain the cell wall for their 100 day lifespan.G6pd is an important enzyme for rbc energy production & if low, various meds or illnesses can trigger cell breakdown & drop the blood cell count. Knowing this ahead of time allows you to avoid certain meds &/or recognize the problem early. ...Read more

Dr. L. Collins
1 doctor shared a insight

Screening (Definition)

Examples are: colonoscopy for colon polyp or cancer; mammograms for breast lesions or cancer; psa a blood test that could indicate enlargement of cancerous prostate tissue; blood sugar or hemoglobin a!c for diabetes. Many think that scanning the whole body will pick up a cancer--in all likelihood, it will not. There also is no good blood test, yet, ...Read more


Dr. Brad Goldenberg
1 doctor shared a insight

Neonatal (Definition)

The term neonatal is generally used to describe events that occur with an infant within the first 30 days after birth.Some practitioners are looser with the definition & extend the ...Read more