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
Newborn had positive Coombs test - i'm O positive and he's B positive. He didn't develop jaundice. How common is a positive Coombs test in newborns?
Common.: About 1 out of 3 pregnancies where the mother and child are ABO incompatible will be Coombs positive, but actual hemolytic disease of the newborn is rare. Only IgG type anti-A or anti-B cross the placenta, which most people don't express. Second the A and or B antigen is not heavily expressed on fetal cells. Also other cells besides RBCs express A and or B and "soak up" the antibodies. ...Read more
Screening vs confirm: Blood screening is a relatively non invasive way to get information on significant problems but by definition it is screening. Screening is an effort to narrow down the list of people that need a specific confirmatory test.By example, for every 1000 screened, 10 may be positive, and offered the amnio to find 1 true positive. An amnio is more invasive & risky but gives more definitive results. ...Read moreSee 1 more doctor answer
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 othe 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
Was my infant screened for dechenne muscular dystrophy? Born in NY - does PKU test for this. Does Viacord screen test for DMD/PKU? What is the difference between the two?
No: Neither test screens for Duchenne muscular dystrophy. Below are links to the disorders covered by Viacord: http://www.viacord.com/Images/HCNB_Panel_LSDs_121311_tcm117-151644.pdf and NYS covers:http://www.wadsworth.org/programs/newborn/screening/screened-disorders. At this point, Duchenne Connect gives information about testing.: https://www.duchenneconnect.org/understanding-genetic-testing.html ...Read moreSee 1 more doctor answer
Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?
Likely will not: If it was positive in childhood it will likely recede. IgG antibodies are slowly to develop and stay positive. IgM antibodies tend to indicate a more recent infection. All the best. ...Read more
3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?
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
Depends on where: Newborn blood screening programs vary from state to state. In California, screening all newborns began around 2007. However, there probably were earlier pilot programs to test different screening methods to see which method would work the best. That means some babies were probably getting screened before 2007. Of course, babies born at home without medical care might miss getting screened. ...Read more
Would a standard genetic test detect 22q11.2 deletion syndrome? My son had genetic testing done at 2 yo.
Standard genetic ?: There are thousands of genetic related tests I am aware of and each has its uses for specific cases. A simple chromosome study would not pick up this deletion.A high resolution study would likely find it in most specialty labs.Some also do a specific study using a genetic probe.This is a question best answered by the folks who did the study in question. ...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 moreSee 1 more doctor answer
Breast or Formula: Breast milk is best, but commercial formulas are fine for babies with glucose-6-phosphate dehydrogenase deficiency. Sulfa drugs, acetaminophen, and anti-malarial medications should be avoided, and as the child ages, fava beans must not be eaten and other legumes should be introduced with caution. Vitamin c, 60-100 mg/day, can help preserve glutathione in this condition. ...Read moreSee 1 more doctor answer
Lyme antibody positive and western blot negative. Where can I find a complete list of other id's associated with a positive igm/igm antibody screen?!
Probably have Lyme!: I don't know where to find such a list as I am not sure the causes of a false positive are known, but, esp. If the western blot did not include the 34 ; 39 bands i would not rely upon it; please do the igenex western blot, which is much more sensitive ; specific for lyme. Even if that is negative 20-30% with lyme can have a negative WB test. Other tests may be indicated. See http://bit.Ly/1aaqjgc. ...Read more