Question 1

what is the definition or description of: newborn screen?

Accepted Answer

A blood test: This is most likely referring to a heal stick blood test that is performed at 24-48 hours after first feeding to test for different inherited diseases some of which have a very simple treatment to avoid complications. 
Each stat has it's own list of diseases it screens for. Almost all include hypothyroid, sickle cell, galactosemia and more. Often referred to as the pku test since phenylketonuria.

Question 2

how long before sickle cell disease can be tested for after the newborn screen?

Accepted Answer

Its in the screen: At least in my state sickle cell is tested in the newborn screening program. The presense of trait is more common than sickle cell disease both are detected.My results are generally back by the time i see kids back at 2 wks. Trait does not change to disease and sickle cell disease does not revert to trait.

Question 3

is breastfeeding a duarte galactosemic (d/g) safe? borderline 1st newborn screen, normal 2nd screen after 9 days of being breastfed exclusively.

Accepted Answer

Probably fine: It is a rare disorder. Seems that those kids that have it present with mild jaundice. Controversy as to whether to keep them on a galactose free formula. Check for enzyme levels at 1 year. Speak to your local geneticist about recurrence risk and counseling.

Question 4

can you get a sample of blood for a newborn screen from a baby's arm instead of their foot?

Accepted Answer

Yes: You can, but small quantities of blood are more easily and less apinfully obtained from the foot.

Question 5

can someone tell me about tests in newborn for galactosemia?

Accepted Answer

Simple: Ask for a blood galactose. I don't know why you ask but if there is any suspicion the disease is exacebated by milk. Its effect is to  cause cataracts, one of the few causes of this in infancy.

Question 6

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 7

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.

Question 8

are genetic screens of newborns mandatory?

Accepted Answer

Yes-with opt out: Newborn screening includes hearing and tests for up to 60 metabolic disorders plus cystic fibrosis (expanded newborn screen). It is legally mandated for pediatricians to perform and interpret this testing but parents can opt out.

Question 9

what is the current drug screen preformed on newborns?

Accepted Answer

Meconium/urine: Urine drug screens are rapid tests that can detect very recent maternal drug use.  Meconium is tested to determine use within the last 4-5 months of pregnancy.

Question 10

how newborns are screened for hearing loss?

Accepted Answer

OAE or ABR: Newborn screenings for hearing loss are mandated by law in most states. An otoacoustic emission test or audio brainstem evoked potential test is done for this. If the screening is abnormal... A referral to an ENT is recommended.

Get Virtual Care

For Businesses

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

What is the result of newborn screen in galactosemia

A member asked:

What is the definition or description of: newborn screen?

A member asked:

How long before sickle cell disease can be tested for after the newborn screen?

A member asked:

Is breastfeeding a duarte galactosemic (d/g) safe? borderline 1st newborn screen, normal 2nd screen after 9 days of being breastfed exclusively.

A member asked:

Can you get a sample of blood for a newborn screen from a baby's arm instead of their foot?

A member asked:

Can someone tell me about tests in newborn for galactosemia?

A member asked:

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

A member asked:

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

A member asked:

Are genetic screens of newborns mandatory?

A member asked:

What is the current drug screen preformed on newborns?

A member asked:

How newborns are screened for hearing loss?

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

For Businesses

Company

Health Content

Join Us

Download HealthTap

Questions?