Blood test for newborn

Newborn Screening Tests (for Parents)

What Is Newborn Screening?

Newborn screening is a public health service done in each U.S. state. Every newborn is tested for a group of health disorders that aren't otherwise found at birth.

With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems. Newborn screening lets doctors diagnose babies quickly and start treatment as soon as possible.

Which Screening Tests Are Offered?

Screening varies by state. Tests offered can change as technology advances and treatments improve. Although there are national recommendations for newborn screening, it is up to each state to decide which tests to include.

Newborn screening includes tests for:

Metabolic problems. Metabolism is the process that converts food into energy the body can use to move, think, and grow. Enzymes are special proteins that help with

metabolismby speeding up the chemical reactions in cells. Most metabolic problems happen when certain enzymes are missing or not working as they should. Metabolic disorders in newborn screening include:

phenylketonuria (PKU)
methylmalonic acidemia
maple syrup urine disease (MSUD)
tyrosinemia
citrullinema
medium chain acyl CoA dehydrogenase (MCAD) deficiency

Hormone problems. Hormones are chemical messengers made by glands. Hormone problems happen when glands make too much or not enough hormones. Hormone problems in newborn screening include:

congenital hypothyroidism
congenital adrenal hyperplasia

Hemoglobin problems: Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Some of the hemoglobin problems included in newborn screening are:

sickle cell disease
hemoglobin SC disease
beta thalassemia

Other problems. Other rare but serious medical problems included in newborn screening are:

galactosemia
biotidinase deficiency
cystic fibrosis
severe combined immunodeficiency (SCID)
Pompe disease (glycogen storage disease type II)
mucopolysaccharidosis type 1
X-linked adrenoleukodystropy
spinal muscle atrophy (SMA)

Most states also screen for hearing loss and critical congenital heart disease, which are not done by testing the blood.

Talk to your doctor if you think your baby may need other newborn screening tests not offered through your state program.

How Is Newborn Screening Done?

A small blood sample taken by pricking the baby's heel is tested. This happens before the baby leaves the hospital, usually at 1 or 2 days of age. Talk to your doctor about newborn screening if your baby was not born in a hospital.

The blood sample should be taken after the first 24 hours of life. Some babies are tested within the first 24 hours, though, because sometimes moms and newborns are discharged within 1 day. If this happens, experts recommend taking a repeat sample after the baby is more than 24 hours old. Some states routinely do two tests on all infants.

When Are the Results Ready?

Results of newborn screening for hearing loss and heart disease are available as soon as the test is done.

Blood test results usually are ready by the time a baby is 5–7 days old. Often, parents won't hear about results if screening tests were normal. They are contacted if a test was positive for a condition. A positive newborn screening test does not mean a child definitely has the medical condition. Doctors order more tests to confirm or rule out the diagnosis. Parents can talk to their child's doctor about the newborn screening results.

If a diagnosis is confirmed, doctors might refer the child to a specialist for more testing and treatment. When treatment is needed, it's important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines, and close monitoring.

Visit Baby's First Test for more information on newborn screening and to find out which conditions your state checks for.

Phenylketonuria (PKU) (for Parents) - Nemours KidsHealth

What Is Phenylketonuria (PKU)?

Phenylketonuria (fen-ul-kee-tuh-NUR-ee-uh), or PKU, is a metabolic disorder that some babies are born with. It's caused by a defect in the enzyme that breaks down the amino acid phenylalanine.

Newborn babies in the United States have their blood tested for PKU as part of newborn screening. This lets doctors start treatment, usually a special diet, right away to help prevent problems.

What Are the Signs & Symptoms of PKU?

The body uses amino acids to build proteins. Phenylalanine (fen-ul-AL-uh-neen) is needed for normal growth in infants and children and for normal protein production. But if too much builds up in the body, the brain is affected. Phenylketonuria that's not treated can lead to developmental delays and permanent intellectual disability.

Phenylalanine also affects melanin, the pigment responsible for hair color and skin color. So kids with PKU often have fair skin, light hair, and blue eyes.

A child with PKU may also have:

seizures
growth problems
behavioral problems
skin rashes
a musty odor to the breath, skin, or urine (pee) from too much phenylalanine in the body

What Causes PKU?

Phenylalanine is one of the eight amino acids that we get only from food sources. Usually, the body breaks down phenylalanine with an enzyme called phenylalanine hydroxylase (PAH) to make proteins.

People with PKU are born with an inherited defect in the gene that controls the production of PAH. So their bodies can't break down phenylalanine properly.

How Is PKU Diagnosed?

All newborn babies in the United States have their blood tested for signs of PKU as part of newborn screening.

How Is Phenylketonuria Treated?

Treatment for PKU involves following a strict diet that is low in phenylalanine. Babies with PKU need to be on a special formula as soon as possible.

Children and adults with PKU should eat a low-protein diet. They should avoid high-protein foods, like milk, dairy, meats, eggs, nuts, soy, and beans. A person with PKU also should avoid the artificial sweetener aspartame, which contains phenylalanine. Special formulas may be needed at any age for the person to get the right amount of calories and essential nutrients.

The special diet should start as soon as PKU is diagnosed and continue for the rest of the person's life. New medicines are being developed to lower PKU in the blood, but medical nutrition therapy is the main treatment for PKU.

What Else Should I Know?

PKU is treatable when found early. Doctors will closely watch kids who have it. People with PKU must strictly follow the right diet for the rest of their lives. This can prevent the problems caused by too much phenylalanine.

If your child has phenylketonuria, work with the health care team to help keep phenylalanine levels in an acceptable range. Your doctor will check the level of phenylalanine in your child's blood regularly.

Because PKU is a genetic condition, you may want to speak to a genetic counselor about testing other family members and how PKU runs in families. You also can find more information and support online at:

National PKU Alliance
The National Society for Phenylketonuria

How to prepare a child for blood sampling?

INVITRO
Library
Laboratory...
How to prepare...

Laboratory diagnostics

18962 20 September

IMPORTANT!

The information in this section should not be used for self-diagnosis or self-treatment. In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor.
For a correct assessment of the results of your analyzes in dynamics, it is preferable to do studies in the same laboratory, since different laboratories may use different research methods and units of measurement to perform the same analyzes.

Preparing for blood sampling in children from 1 day to 12 months:

Try to donate blood before the next feeding.
30 minutes before the procedure, it is advisable to give the child some water (up to 50 ml).
At the time of blood sampling, the child's hands must be warm.
Immediately before the procedure, position the child so that he is as comfortable as possible.
Make sure the child is calm. It should take a couple of minutes before the nurse starts drawing blood.

Preparing for blood sampling in children under 14:

Remain completely calm. Tell your child in an interesting and accessible way what will happen in the laboratory, why tests are needed. Warn that he may have discomfort, but they will pass quickly.
If necessary, stay close to the child in the treatment room.
Hold small children during the procedure.
It is advisable not to start drawing blood immediately after entering the treatment room. Give your child time to calm down and settle in.

IMPORTANT!

Recommendations

PSA (prostate specific antigen) test

6361 may 13
Human papillomavirus

10905 04 May
Alkaline phosphatase

2931 16 April

Laboratory diagnostics

How to properly prepare for a laboratory test

Dear patients! Please note that it is recommended to donate blood for laboratory tests in the morning on an empty stomach, after an 8-12 hour overnight fasting period. If the patient does not have the opportunity to come to the laboratory in the morning, blood should be donated after 6 hours of fasting, excluding fats in the morning meal.

Laboratory diagnostics

Books “INVITRO for people's health”

On the pages of the books you will find information about the peculiarities of preparing for research, about the nature of the influence of preanalytical factors on the result of the analysis.

Anemia

Poisoning

Intoxication

Lead is a toxic element

Lead and its compounds are widely used in everyday life, poisoning with lead compounds can be observed both at work and in everyday life.

Hyperprolactinemia

Infertility

Detection of macroprolactin in the blood

Detection of macroprolactin in the INVITRO laboratory. This test is performed as an additional study to the determination of prolactin when an elevated level of prolactin (> 700 mU / l) is detected, which will significantly increase the diagnostic value of the study results. This study will be performed for all patients with a prolactin result > 700 mU/L. Please note that the implementation of this study does not increase the cost of determining prolactin.

Pregnancy

ECO

Physiological changes in blood parameters during pregnancy

Changes in the coagulogram of a pregnant woman is a physiological process associated with the appearance of the uteroplacental circulation. This process is associated with the evolutionary, adaptive reactions of the body of a pregnant woman. The body of a woman prepares for the costs during gestation and possible blood loss during childbirth. During the physiological course of pregnancy, the activity of the procoagulant link increases. Already at the 3rd month of pregnancy, fibrinogen rises (this is the factor I (first) of the plasma coagulation system) and reaches maximum values on the eve of childbirth. Therefore, gynecologists reasonably recommend monitoring this indicator during pregnancy (1 time per trimester, if there are deviations of these indicators more often, 1 time per week).

Take a general blood test for a child in Moscow. In the Fantasy clinic and at home, prices on the site

We work with the best laboratories, we guarantee accurate results. We carry out all the tests that the child may need. Our doctors often use express tests - for quick diagnosis. We carry out any procedure as comfortable as possible for the child!

Make an appointment via WhatsApp

Video Reviews Doctors

The first children's clinic of evidence-based medicine in Moscow

No unnecessary examinations and drugs! We will prescribe only what has proven effective and will help your child.

Treatment according to world standards

We treat children with the same quality as in the best medical centers in the world.

Fantasy has the best team of doctors!

Pediatricians and subspecialists Fantasy - highly experienced doctors, members of professional societies. Doctors constantly improve their qualifications, undergo internships abroad.

The ultimate safety of treatment

We have made children's medicine safe! All our staff work according to the strictest international standards JCI

We have fun, like visiting best friends

Game room, cheerful animator, gifts after the reception. We try to make friends with the child and do everything to make the little patient feel comfortable with us.

You can make an appointment by calling or by filling out the form on the website

Other services

Test for coronavirus with a visit to the office or production (for legal entities)
Covid-19 antibody test at home
Antigen test, PCR test for coronavirus at home
All tests for coronavirus and antibodies to coronavirus!

Ultrasound diagnostics

Complex ultrasound of newborns
Ultrasound of the child's brain (neurosonography)
Thyroid ultrasound for children
Ultrasound of the lymph nodes in children
Breast ultrasound for children Girls and boys
Soft tissue ultrasound for children
Ultrasound of the abdominal organs for children
Ultrasound of the pelvic organs in girls with transabdominal access
Ultrasound of the kidneys for a child
Ultrasound of the scrotum
Ultrasound of the salivary glands in children
Examination of the paranasal sinuses, ultrasound of the soft tissues of the head and neck
Ultrasound of the joints for children
Ultrasound of the child's heart (echocardiography, ECHO KG)