Newborn Screening | Ask the Geneticist (SM)

Q&A about conditions that are tested for by newborn screening. Newborn screening (NBS) is a test done from a small blood sample on a newborn in the first 24-48 hours of life to test for inherited disorders of metabolism and hemoglobin. Examples include galactosemia and sickle cell anemia.

Other information about newborn screening

-National Newborn Screening & Genetics Resource Center

http://genes-r-us.uthscsa.edu/

-Disorder Fact Sheets

http://www.newbornscreening.info/Parents/facts.html

-MedlinePlus

http://www.nlm.nih.gov/medlineplus/newbornscreening.html

-American Academy of Pediatrics

http://www.aap.org/healthtopics/newbornscreening.cfm

-Centers for Disease Control and Prevention (CDC)

http://www.cdc.gov/newbornscreening/

Subtopics

Alpha Thalassemia (1) Becker Muscular Dystrophy (BMD) (1) Beta Thalassemia (1) Biotinidase Deficiency (1) Cystic Fibrosis (CF) (2) Galactosemia (3) General Questions on this topic (5) Krabbe disease (2) Miscellaneous/Unclear Diagnosis (1) Sickle Cell Disease (4) Tyrosinemia (1) VLCADD (1) No Sub-topic (0) Showing 23 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	Hi- My brother has Beckers Muscular Dystrophy and I myself am a carrier of the genetic condition. About 3 years ago I was diagnosed with Heart Failure and found out that my left venticle in my heart is weak. I have no symtoms of Muscular Dystrophy besides the heart condition. However my brother who has Beckers MD has the exact same heart condition. I was wondering if you are finding more carriers to have heart conditions and if you could give me any information you have on carriers of MD with heart conditions. Also, are you finding any informatin on male carriers having heart conditions as well? Please let me know, thanks so much. View Answer		2009-09-09


	New York State has a newborn screening program that screens for krabbe disease. It's the only state that does, although i think Illinois is planning to start. My son was born 10-13-08 he is 10 months old now and we just successfully completed his newborn screening. This was because the three other times we had the test performed there were problems, too soon after birth, halos, etc. Now they are saying that the krabbe test result is abnormal, 11.59. I think maybe it's due to his age. Do they have reference values for children 10 months old or are all the values for 24-48 hour old infants? Would this make a difference? View Answer		2009-08-14


	I am curious if the "newborn metabolic screening" comes back as normal, can they still test positive for things later in life? For instance, can the test of beta-thalessemia be normal, but then when retested for it several months later, can it come back as positive? Thank you... View Answer		2009-08-10


	My granddaughter had an inconclusive test for galactocemia at birth and was retested a few weeks later. That test also was inconclusive. What could be the reason that both tests were inconclusive? She is now 4 months old is very normal. What could be the problem? View Answer		2009-02-15


	My child was born on November 24, 2008.. She was a pretty healthy child. AS FAR AS WE KNEW.. She passed away on jan. 11 2009.. So my question for you is.. What is Galactosmia and are some of these thing that she would do symptoms of this disorder.. She would never cry to strat with. Then she started crying all the time day and night. She would never focas on anything.. She would throw up all the time. She would act like she was starving all the time so we had to give her more and more milk. She went from 5 pounds and 10 oz to 7 pounds and 4 oz in a matter of 3 weeks cause she ate so often and stayed so hungrey. A really big question that i would really like for you to answer is IF the gala. test comes back abnormal at the newborn screaning will it go normal after 3 to 4 weeks? And another question I have is when my husband and I found our baby after she had passedaway she had a brownish looking snotty stuff comming out of her.. What was that stuff? View Answer		2009-01-22


	I have a grandson that was determined to be VLCADD after a routine newborn infant screening. A few weeks later, a subsequent screening indicated a negative VLCADD result. Additional testing is being scheduled. My questions are: (1) Why would different results be found on the same test within weeks? (2) Should either test be given a higher priority? (3) If a third screen test for VLCADD indicated a negative response, would the two later tests indicate the likelyhood that the first test was in error? Thanking you in advance for your information. View Answer		2009-01-14


	I just recently had my baby at 33 wks and she is currently in the Nicu @ Gulf Coast Medical. I received a letter from the Florida Department of Health today saying that she has the sickle cell trait. My husband and i are a biracial couple, he is African american and i am caucasian. My husband carries the trait as well. We have another daughter and when it was time to test her, my doctor told me that both parents would have to carry the trait in order to pass it down, and that the trait is only found in african americans. Now of course getting this letter, i am confused. Is this true that both parents have to carry the trait in order for it to be passed? Maybe the results are incorrect? Or was i misinformed? I would appreciate any information you could give me. View Answer		2008-10-01


	my newborn's test results showed a presence of hemoglobin A and C. What is that? View Answer		2008-09-19


	My neice was asked to come back to the hospital 10 days old. They explained that they need to take her blood work because they wanted to test her for Krabbe Disease. They explained her level was a 5.9%, and should be above 12. Considering she is only 10 days old, we have not seen any "symptoms". With this count being low, does this mean she DOES have this disease? Why would they test it again? Could it be a mistake? Does this automatically mean she will die? I'm so confused! Please help me understand. View Answer		2008-08-21


	I received a letter in the mail today and it is telling me that my newborn baby had a test done and he showed presence of hemoglobin A and S. It says that this condition is called Sickle Cell Trait. I am not sure what this means he was born on June 5, 2008. Is this something that I should worry about? Does this mean that he has Sickle Cell Anemia? View Answer		2008-06-18


	My child had a newborn metabolic screen done on him. The test came back abnormal/borderline can you please tell me what do that mean? What the test is for? View Answer		2008-02-29


	Do you know when Georgia added testing for cystic fibrosis to its newborn screenings? View Answer		2008-01-14


	I recieved a letter today that said my newborn ( 2 weeks old) had A form of ALPHA THALASSEMIA.. IT said .. The test did show that your baby's blood contains a small amount of HEMOGLOBIN BARTS. This means your child has a form of alpha thalassemia, which may cause mild anemia. This anemia can be serious in asain s etc.. I am caucasian and the father is african... What is the difference in Hemoglobin barts and alpha thalassemis and how worried should i be it say that it can relate in death.. View Answer		2007-12-13


	My son is 2 months old and the doctors just called us about his pku test. They said that they found an "unknown" abnormality when he was tested. What could this mean for my son? They did not say he tested positive for pku, just that they found an "unknown" abnormality and that he might be anemic, but are unsure. View Answer		2007-09-12


	My daughter was diagnosed with BTD on her new born screening. We went to the University of Michigan until they could not do it anymore. She was on Biotin vitamin until she was 3. She was boarderline for the deficiency. I don't know if her BTD is still good. I've tried to get her records but they could not find them. She is very healthy, growing like a weed and very smart. How do I know if she is "healthy" in BTD? View Answer		2007-06-16


	I just had a baby and the results of his PKU revealed that his hemoglobin type is SAC. I know that the S stands for sickle cell and the C is the trait that I carry, but what does the SAC mean? I did some research on-line and found out that SA is the sickle cell trait and SC is a form of sickle cell disease, but I couldn't find anything on SAC. The doctor didn't give me much information, but he did say that the baby will have to be tested again at 1 years old. Any information that you can provide will be greatly appreciated. Thanks, View Answer		2006-12-01


	What is the Goergia Newborn Metabolic Screen? What does this battery of tests show/deternmine? View Answer		2006-11-08


	What are the newborn screening tests done here in NC and how do they compare with those in SERG...Thank you. View Answer		2006-10-23


	My daughter who is 8 days old has had 2 tests come back showing elevated Tyrosinemia levels. We have an appointment Monday morning with a Metabolic specialist for further testing. She is not displaying the symptoms (ie vomiting, diarrahea, cabbage like odor, etc. My wife and I are very concerned. Nothing I am reading sounds good. If she has this and if treated and managed properly can she live a normal life into old age? View Answer		2006-09-30


	I have a 4 week old that came back with a positive galt. We are still waiting on answers from the Children's hospital about what to do next. Is there a possibility of a false positive or does this mean he has the disease? Is it ever possible to still breast feed if I made my diet lactofree? Thanks! View Answer		2006-07-24


	I have a concern about my son and Citrullinemia. Recently the Arizona dept. of health wanted the doctor to retest him for the pku screening. I have looked up information about it on the internet and he does not seem to have any of the symptoms they described. I was wondering what they test for in the blood to determine if he has this or not. I am not sure what it was but the doctor said his level was 2.2. What is the normal level supposed to be that they test for this disorder?? View Answer		2006-07-11


	On CF newborn screening my daughter presented with an irt of 56. On 2 subsequent sweat tests of about 2 weeks of age she scored a 29 and 32. On prenatal screening my wife tested negative and on my daughters newborn screening she showed one mutation of w1282x. in the subsequent weeks she has exhibited good weight gain, she is actually in the 75% for her height and weight. She has tested negative on the fecal elastase test scoring about 380. They took her blood for genetic sequencing and the results came back that one mutation mentioned and a polymorphism. They explained something regarding t5 t7 and t9. Me and my wife were just tested and havent received the results. Knowing that i am the carrier of the mutation can I still carry the polymorphism. If not if my wife is what does this mean for my daughter. Classic, nonclassic or asymptomatic. Plrease explain. View Answer		2006-03-10


	My son went through 2 newborn screenings and both came back normal. As he became jaundiced and lost two pounds in the first two weeks of life, they finally diagnosed him with classic galactosemia. He was 10 weeks old before they finally diagnosed him. They did not test for galactosemia at first because it had been ruled out from the newborn screening. He is 9 yrs old now. In an article I read it stated that galactosemia can be detected in virtually 100% of children. Yet it missed my son 2 times. Is my son the only child the screening has ever missed? Or have they changed the screening in the last 9 years? Or does his mutation make a difference? I went to a conference for galactosemia in 1997 and spoke with some people there; they could not give me any answers at that time. I have not found anyone else that the newborn screening has missed; it just makes me wonder why? Everything I read leads me to believe the earlier you change the diet the better, but my son has also done better than most of the children I have met, even though he was 70 days old when they found it. Most doctors have been amazed he lived that long. He has had fine motor problems and goes to OT at school. He has been on average grade level to date. He has had cataract surgery, but is doing well now. His Gal-1-P level is always good. He follows his diet well. Will his IQ start to drop as he gets older? I would like any long term facts you can give me. View Answer		2005-09-14

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