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Doctor insights on: Pku Testing In Newborns

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Are there some prenatal tests for phenylketonuria (pku), or just the newborn screening test?

Are there some prenatal tests for phenylketonuria (pku), or just the newborn screening test?

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

Dr. Thomas Fiala
73 doctors shared insights

Pku (Definition)

It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants. This disorder is tested for in all newborns and a special formula ...Read more


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Are genetic screens of newborns mandatory?

Are genetic screens of newborns mandatory?

No: Newborn screens are performed with every birth. Not mandated by law but they are highly recommended as they identify inborn errors that can be treated before they cause permanent damage to your infant. ...Read more

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Blood test to detect spinal bifida in unborn babies?

Blood test to detect spinal  bifida in unborn babies?

Screening/ Diagnosis: Screening tests take general populations (pregnant ) and selects sub groups that have a higher risk of a problem. The AFP test looks for a material that can show up in the blood & suggest a higher risk of a spina bifida. If the test shows a higher risk, a selective test, like high resolution ultrasound can be done to look for the spina bifida. ...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 they test all babies born in hospitals at birth?

Can they test all babies born in hospitals at birth?

Yes!: The newborn screening is universal for all babies to test for various disorders that may be present at birth. Most of the problems screened for can be very serious if not addressed early in life. ...Read more

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How accurate is an ultrasound in diagnosing hidden spina bifida in a newborn baby?

How accurate is an ultrasound in diagnosing hidden spina bifida in a newborn baby?

Pretty accurate: Depending on the baby's position and the ultrasound technician's technique, there is a good chance to pick up a myelomeningocele. Clinical suspicion will usually start with an elevated Alpha feto protein run by your ob/gyn. ...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

Dr. Jay Park Dr. Park
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What causes newborns to be born with parasites in their brain?

Dr. Jay Park Dr. Park
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What causes newborns to be born with parasites in their brain?

Toxoplasmosis: Fetal infection follows when pregnant mother experiences primary infection during her pregnancy. The risk of fetal infection increases steeply with advancing gestational age at the time of maternal infection. Pregnant women should not dispose cat's litter box. ...Read more

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Are hemangiomas in newborn due to cvs?

They can be.: I respectfully disagree with dr. Evans. There are 8-10 published papers on the increase of hemangiomas after chorionic villous sampling (cvs). No one knows why this association occurs, but it is probably the same reason as the higher incidence of hemangiomas in premature infants. This is felt to be due to fetal "stress". ...Read more

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Nursing daignosis of spina bifida in neonate as pryority?

Nursing daignosis of spina bifida in neonate as pryority?

Do your homework: The site is not designed to be a shortcut to answer your homework. You need to read through your nursing texts, assimilate the information and come up with a list reflecting the jargon of your texts.Anything off the site will not fit your instructors requirements & they will know you took a shortcut. ...Read more

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Which chromosome is affected in msud (maple syrup urine disease)?

Which chromosome is affected in msud (maple syrup urine disease)?

Chromosome 19: Msud results from a defect in chromosome 19 in one if the 6 subunit genes in the bckhda complex. ...Read more

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Is sickle cell testing mandatory in any races?

Is sickle cell testing mandatory in any races?

No: In the U.S., sickle-cell testing is not mandatory by any state. In 2010, there was controversial discussion by the ncaa of requiring all african-american athletes at division i schools to undergo sickle-cell testing but this never went forward. ...Read more

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In north america when are obs doing blood vs genetic amnio tests on babies?

In north america when are obs doing blood vs genetic amnio tests on babies?

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 more

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Must both parents have a point mutation in their CF genes in order to create a child with cf?

Must both parents have a point mutation in their CF genes in order to create a child with cf?

Yes, but: It does not have to be the same mutation. The most common point mutation accounts for about 80% of all CF,with both asymptomatic parents carrying an identical recessive defect. However there are hundreds of variations in the point mutation that could pair up, resulting in a slight difference in the presentation and course of some patients. ...Read more

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Congenital heart diseases in parents -> what risk in fetuses?

Congenital heart diseases in parents -> what risk in fetuses?

One~4%both~6-8: Chd is polygenic= influenced by multiple genes and not directly passed on. The type of the parents chd is not necessarily one seen in the offspring. ...Read more

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Can phenylketonuria (pku) be a chromosomal mutation?

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info. http://www.mayoclinic.com/health/phenylketonuria/ds00514. ...Read more

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Is immunicap testing reliable for allergy in kids with severe eczema?

Is immunicap testing reliable for allergy in kids with severe eczema?

Possibly: The testing can identify a kid with a high ige level and suggest a variety of food or other items that if avoided may improve the eczema. It's accuracy varies & it can only be considered a tool in the efforts to help kids.Skin testing is another tool with value but may be cumbersome or difficult in a kid with eczema. All this should be part of open discussion with your doc. ...Read more

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What chromosome is affected in msud (maple syrup urine disease)?

What chromosome  is affected in msud (maple syrup urine disease)?

1, 6, and 19: Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly. This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information. ...Read more

Dr. Ana Adelstein
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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