A PKU screening test is a blood test done on newborns 1-3 days after birth. pku stands for for phenylketonuria PKU is a rare condition in which the body cannot override the ratio of a protein called phenylalanine (PHE) PHE is found in all foods containing protein, including milk, beef, nuts, etc. It is also found in an artificial sweetener called Aspartame.
If you have PKU and eat foods with PHE, PHE will accumulate in your blood. If levels are very high, it can permanently damage the nervous system and brain. The damage can cause seizures, psychiatric problems, learning and developmental disabilities, and almost any kind of welfare issue.é PKU screening Test for PKU diagnosis by measuring the number of PHEs in a blood sample.
PKU is a genetic disorder. This means it is caused by a change in a gene (also called a mutation or mutation). A gene is a piece of DNA in a cell that you inherit from your guardian. Genes have information that keeps you in control of how you look and how your body works. genes involved in PKU help make substances that break down in your food. pKU can range from mild to severe, depending on whether the modified gene still makes something work. PKU is rare.
PKU is rare. If a baby wants to inherit PKU, both parents must be carriers of the modified gene. However, all newborns in the U.S. must be tested for PKU. The reasons for this are as follows
- The test is simple and poses little health risk. And the test helps prevent lifelong brain damage and other serious health problems.
- If PKU is detected in its early stages, a special diet with little or no protein and PHE can prevent health problems.
Other name: Neonatal PKU screening , PKU test
What is it used for?
The PKU test is used to see if a newborn baby has a high PKU value in the blood. This means that the baby has PKU. Further studies may be needed to confirm or rule out the diagnosis.
Why did my baby have it? PKU screening test?
Newborns in the U.S. are required to undergo PKU testing, which is part of a series of tests usually called the Neonatal PKU Test. screening Fiel d-beam older babies and toddlers coming from other countries may need to be tested. They may still be tested if they have signs of PKU, including
- Delayed development
- Intellectual difficulties
- Musty odor of breath, skin, or urine (urinary)
- Abnormally small head (microcephaly)
What happens inside PKU screening test?
The health care provider wipes the baby’s heel with alcohol. During this time, the health care provider presses the baby’s heel with a small needle to collect a few drops of blood. The heel is bandaged during this time.
To obtain clear test results, the baby must be fed protein from breast milk or formula before the blood sample is taken. Therefore, testing is usually done one to two days after birth. If your baby does not show up at the clinic or leaves the clinic early, it is important to consult with your baby’s health care provider to schedule a PKU test as soon as possible.
Do I need to do anything to prepare my baby for the test?
No special equipment is needed for the PKU test.
Are there any risks associated with the test?
The risk to the baby from the blood test is not sufficient. The infant may feel a slight acceleration when the heel is poked. A small scar may appear on the heel, but it will soon disappear.
What do the results mean?
If the result is normal, it means that your baby’s PHE level was normal. Therefore, it is unlikely that your baby has PKU. However, if the test was done within the first 24 hours of life, the baby may need to be tested again when he/she is 1 to 2 months old.
If both caregivers know they carry the PKU gene and the baby’s test results are normal, the baby should undergo genetic testing. This blood test will test for the presence of changes in the baby’s genes. Depending on the results, PKU will be diagnosed or possibly ruled out.
If your baby’s results are not normal, it means that there is an elevated level of PHE in your baby’s blood. Your baby probably has PKU. Your doctor may order additional tests to detect or rule out PKU. These tests may include more blood tests and urine tests.
Because PKU is a genetic disorder, you and your baby may want to have genetic testing done. Genetic testing shows the pattern of genetic makeup that causes the disease. This information helps physicians understand the severity of PKU and how to manage it.
Typically, PKU is treated with a special low-protein diet and continued throughout life. This usually means limiting or avoiding protein-rich products such as beef, fish, eggs, and beans; people with PKU often take special dietary supplements to keep their diet on track. In some cases, PKU can be treated with medication. A dietitian can help you plan a healthy diet to control PKU.
If your baby has an established FCU, you can safely provide PHE-free infant foods. Since breast milk contains PHE, if you wish to breastfeed your baby, you can consult your baby’s doctor or your baby can safely obtain breast milk.
Is there anything else I should know? PKU screening test?
If you are pregnant, your baby can have FCU even if you and the baby’s other caretakers do not have it. This is because there are two copies of every gene. To get FCU, both copies of the gene that causes FCU must be in the configuration.
If you and your baby’s other caregiver each have one modified phenylketonuria gene, your baby 2 can inherit the modified gene and be born with the disease.
A prenatal screening This test can indicate if your baby has PKU. The test uses a sample.
- of amniotic fluid surrounding the baby in the uterus. During a procedure called amniocentesis, a small amount of water is removed with a needle inserted into the abdomen.
- Some tissue from the placenta provides organs that grow in the uterus and provide nutrients and oxygen to the upcoming baby. This sample is taken using a needle inserted into the abdomen or a tube inserted through the vagina in a procedure called Chorionvillia Monstring.
Your physician or genetic consultant can help you decide if prenatal research at FCU is right for you.
With permission from MedlinePlus from the National Library of Medicine.
About Us
Family Medicine
In 2024 our team of doctors and nurses provide a comprehensive range of family planning services. Our doctors have expertise in antenatal care, preconception planning, and STD checks. Contraceptive advice including Mirena and Implanon insertion is available.
- Early detection of illness;
- Family planning;
- Promotion of healthy lifestyle;
- Skin cancer checks;
- Sports injuries;
- Weight reduction;
- Workers compensation and third party.
Children's Health
Baby Weighing Service. Babies can be booked with our Nurse for weighing, a doctors appointment is not required to use this service. Contact reception for a appointment to have your baby weighed.
Immunisations. At Tuggeranong Square children's immunisation is regarded an important part of your childs health care. Our doctors take immunising children very seriously. and to ensure all children are immunised Tuggeranong Square Medical Practice doctors BULK BILL for all childhood immunisations. Tuggeranong Square Medical Practice also ensures the Practice Nursing Staff are highly trained in childhood immunisations.
Women's Health
Our practice is dedicated to treating a wide spectrum of women’s health concerns. We offer pre-natal, antenatal and postnatal care, contraceptive options, pap screening, and preventative health care advice. We provide assistance, advice and support through all stages of life, recognising the many issues many women may face from adolescence through to the peri and post-menopausal period.
- Cervical Screening tests;
- Reproductive health. Including Mirena and Implanon insertion;
- Shared antenatal care.
Men's Health
We encourage men to present routinely to their GP to discuss all aspects of their health. We provide comprehensive advice and support for men to address the prevention and management of various health conditions. This may include assessments for cardiovascular risk, diabetes, cancer prevention, mental health assessments, STD screening, sports injuries and the importance of sleep as it relates to other areas of health.
- Preventative Healthcare. Including cardiovascular screening, mental health and cancer checks;
- Prostate examination.
