Doctor insights on:
G6pd Screening In Newborn
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
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
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
My pediatrician ruled out that my Lo has a breastfeed jaundiced, but her newborn screening shows that she's g6pd deficient as well, . Should we treat h?
G6PD: No treatment in general but need to know what food and medication she may need to avoid to keep her safe ...Read more
Pls help me my son had a born screen. How can we notice that my son have g6pd deficiency in what value. Thanks
Maybe/Maybe Not: A child's pulse-ox screen will only be low if there is "blue" blood making it out to the body. In the first few hours of life, the resistance in the lungs is still high and may cause blue blood to flow across the asd. This is relatively unlikely though, and so most times the pulse ox screen would not detect an asd. ...Read more
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
Blood and hearing: Around 24 hours old babies should have blood drawn for a newborn screen and bilirubin. The newborn screen is a test that looks for genetic and metabolic diseases (the number of diseases tested varies by state). The results usually come back in 3 weeks. The bilirubin will come back in a few hours and is a measure of jaundice in the baby. Newborns also get a hearing test before hospital discharge. ...Read more
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. ...Read more
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
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
With recommendations from the virginia genetics advisory committee, it has been mandated (virginia code 32.1-65) that every child born within the commonwealth must be tested for the following 28 disorders.
http://dgs. Virginia. Gov/divisionofconsolidatedlaboratoryservices/services/analyticalservices/newbornscreeningservices/tabid/511/default. Aspx. ...Read more
Depends: What do you mean? To date, all states have screening programs for recognized metabolic and other disorders where treatment will benefit the child.Many can have a healthy productive life if these are caught early, and devastating outcome marked by seizures or loss of potential function if not. There are many controversial genetic tests that are appropriately limited to personal decision by individual. ...Read more
Define unnecessary: I worked at a Child Development Center where we say children who had metabolic problems like unrecognized PKU, hypothroidism, and even rarer conditions. None of their parents were happy to hear the kid would be brain injured for the rest of their life from a condition that could have been prevented by early screening. Just because you think your kid could never have the problem doesn't make it true ...Read more
Heel stick...: The blood obtained for state newborn screen (heel stick all babies have) is tested for sickle cell in all 50 states. Depending on the laboratory used, detection of sickle cell is determined by either thin-layer isoelectric focusing (ief) or high performance liquid chromatography (hplc). Each test can detect the biophysical change in the beta hemoglobin molecule caused by the sickle cell mutation. ...Read more
Early treatment: Early detection of scid will permit early treatment to avoid life threatening complications. A baby with scid is born with transient immunity from mom from the placenta. However, this material disappears leaving baby at risk for invasion infections. Scid babies will not develope antibodies to germs and fight them off. Early detection allows for treatment to avoid catastrophic illness. ...Read more
Prenatal Dx of PKU: Phenylketonuria, pku is the result of the deficiency of the enzyme phenylalanine hydoxylase which converts phenylalanine to tyrosine. There is a prenatal test available to detect this enzyme deficiency. However there are rare forms of pku that result from cofactor deficiency or other enzymes that are involved in the conversion of phenylalanie to tyrosine. Pku is not a fatal genetic defect. ...Read more
My wife & son passed california newborn screening for CF, does that mean odds are low for typical cystic fibrosis or mild form?
Newborn screening: For Cystic Fibrosis is done by Immunoreactive Trypsinogen, IRT. If the IRT level is ^, DNA tests for CF gene mutations are done on blood on the Guthrie card. CF Foundation-accredited Care Centers in CA look for an "intermediate" sweat chloride result in young infants who do not gain wt. & have bad gas, abdominal pain & loose or hard stools &/or wheezing/coughing for > 2 wks. To diagnose CRMS. ...Read more
Would a 2 y.O a with a severe metabolic disorder show symptoms usually by that age? He had newborn screening normal and genetic testic that normal.
Besides a hearing problem, what would be a reason for a 7mo not to coo or babble? She passed the newborn screening & turns to noises but is not vocal.
Don't ignore hearing: The newborn hearing exam is one point in time & provides us with needed initial information on hearing issues that are present from birth. However, there are some conditions that can lead to gradual loss after a few months, even if things were fine at the start. I'd get the hearing re-tested as part of a good evaluation with your dr. Baby should be doing reciprocal oos & ahhs & more as you play. ...Read more
Son didn't have pediatrician until after we left hospital. If there was something wrong with newborn screening tests, would the hospital have called me?
Newborn screen: Most states/hospitals have a mechanism for following up on a newborn screen if there is an abnormality. There should be a number on your paperwork to call if you are concerned. Most screens take about 2 weeks. You could also call the hospital where you delivered and find out what their procedure is and speak to the person in charge to find out your baby's results. ...Read more
Is it possible for my baby to have a meconium plug without any underlying health issues? All his newborn screening tests came back normal. Plus, he stools on his own.
Word definitions: To be more specific, all infants have a little plug that passes with the initial meconium. Occasionally the plug and some meconium passes before birth as a sign of stress.Meconium ileus is a condition where the meconium is so thick and sticky that it blocks all stool passage and can be a sign of cf. My state state screens for CF as part of its newborn screening program but not all do. ...Read more
Are there any medicolegal cases, when medical staff has shown negligence in diagnosing 4 month infant testicular torsion resulting in loss of testicle. Initial Newborn screening showed both testis normal shape and size. And now after 4 month they diagnose
Testicular torsion: Usually is an acute urologic emergency. It is unlikely to be present for 4 months ...Read more
My child tested neg. For alpha thalassemia during her newborn screening but pos. Mths after a blood transfusion? Was the donor's blood still present?
Repeat it: There's always the possibility of lab error. If this is important, please do retest. ...Read more
18/month son keeps getting cold, sinus infection, ear infection. Wife had negative prenatal screening and son had negative newborn screening. CF?
Doubt it: Young children frequently get colds, called upper respiratory infections (URI's), which often lead to ear infections. 3-4 ear infections per ear in the first few years may be considered average, with some children even more prone than others due to different exposures to germs like being in a daycare settings etc. While he should get better by age 3-4 yrs, make sure to get his hearing checked. ...Read more
Depends: A screening test is a relatively simple & inexpensive test designed to narrow down the number of patients brought in for the more expensive specific tests. For every 10, 000 screened, 100 may show positive & secondary tests will show 2--3 with a real problem. The screen eliminated 99% that didn't need a specific test. The state notifies me of + screens & we get the tests. If a real pbm, rx is atarted. ...Read more