It means the result of the screening test (newborn heel stick test) is positive, the confirmatory tests do not confirm the result and the baby hasn't related signs or symptoms. Actually, several conditions such as childbirth stress, infections during birth, mother use of antibiotics during pregnancy newborn use of antibiotics and etc., can cause a false positive result.

Lethargy, laxity and whining, restlessness, frequent vomiting in the child, not feeding well, poor sucking in the child, breathing disorder or difficulty breathing, seizures, delay in acquiring developmental skills in the child such as holding the neck, laughing, rolling, sitting and...

It may be necessary to repeat the test or perform more tests for three reasons: a) If the sampling of your baby was done within the first 24 hours after birth. b) If the blood sample is not suitable. (The conditions of sampling or sending the sample to the laboratory are not optimal) c) If there is an abnormal finding in the conducted test.

? Before trying to get pregnant, it is recommended to get specialized genetic counseling with your child's documents in hand. In this consultation, after drawing the genealogy and taking a detailed medical history, and checking the tests performed on the affected person, the analysis of the genealogy information is done, and based on that, the probability of the recurrence of this disease in your future children is explained. And the available solutions and tests are described with the description of the benefits and limitations and the success rate of the tests, etc. for having a child without metabolic disease similar to the affected child. In such cases, if the family wishes, it is suggested to first examine the affected person using the NGS technique. In the next step, if the disease-causing mutation is found and confirmed in the affected person, it is recommended to check and confirm the same mutation in the parents, and based on the results, diagnostic methods can be used before and during pregnancy, PGD and suggested PND. If your baby is diagnosed with metabolic disease, there is a possibility that your next child will also get this disease. In this case, it is necessary to consult a geneticist before the next pregnancy. Currently, there are accurate methods of prenatal diagnosis to identify and prevent the next child from being infected.

We cannot cure these diseases, but with early diagnosis and intervention, the dangerous complications of the disease can be controlled. The control of this group of diseases in the past was done by restricting the diets, and according to the type of disease, diets, drugs, synthetic enzymes, dialysis, etc. can be used. Of course, nowadays, various treatment methods such as gene therapy, enzyme therapy, bone marrow transplant, etc. have been introduced for a number of these diseases, and some of them have succeeded in obtaining the necessary approvals.

Primary cases refer to diseases that are included in the screening program from the beginning and their course is completely clear and treatable, and there is a sensitive and accurate test to confirm them. But some cases are accidentally found in the screening test that was not included in the program before, and those cases need to be investigated and followed up, which are known as secondary cases.

No, in some cases where the enzyme deficiency is mild, the test may be negative in infancy, and over time, symptoms may appear following stress such as infection-surgery or prolonged fasting. At any age, with the appearance of suspicious symptoms, metabolic tests should be repeated at the discretion of the attending physician. In cases where the baby is ill or hospitalized and not well fed, the test result may be falsely negative and the test should be repeated a few days after proper feeding.

No, this test is only a preliminary test for the possible diagnosis of the disease, and there is a possibility of a false positive error in it, and to confirm the disease, other additional tests must be requested depending on the case identified by the attending physician, and after that, the disease can be confirmed. The baby made a decision. In some special circumstances, depending on the discretion of the attending physician, it may be necessary to start treatment before the results of additional tests are ready to avoid serious complications.

After performing our screening test, the rest of the dried blood sample is stored on filter paper for use in future confirmatory tests. If the initial sample is small or the results are not satisfactory, it will be used. Also, this sample can be used in cases where the baby is lost and a definite diagnosis is needed for genetic tests.

No, in countries that are part of the national program, this test is conducted as a standard without obtaining permission from parents. In our country, only two congenital hypothyroid diseases and PKU are part of the national program that is routinely performed for all newborns, but other diseases that have not yet entered the national program are done after consulting the parents and if they wish, by signing a consent form. Takes.

Most babies are born healthy, only in a few cases they may have metabolic congenital diseases that are asymptomatic at birth, but if they become symptomatic, they will cause severe complications for the baby, so it needs quick intervention before this happens. These diseases can be identified and treated or prevented to a significant extent by screening tests before they become symptomatic. If the screening is done in the early days after birth, the chances of the affected child is treated on time will be higher.

It is better to feed the baby before and after sampling. The baby should be kept warm and the heel should be massaged before the sampling to ensure better blood flow.

1. Be sure to contact HopeGene Medical Institute's Neonatal Metabolic Disease Screening Department at the scheduled time (2-7 days old) to determine the time and perform the screening of your baby.
2. If you are contacted to perform more tests, act quickly because if your baby is suffering from these diseases, quick action is very important and decisive to control it.
3. Before leaving the institution, make sure that your exact address and phone number are correctly registered and provided to the relevant medical staff. In case of a change of location, immediately inform HopeGene Medical Institute of the address and phone number of the new location.

This test is performed by taking a few drops of blood from the heel of the foot with a fine lancet and does not cause any harm to the baby except for the slight pain caused by the needle tip.

Metabolic diseases are a group of disorders in which the metabolism of one or more types of food (protein, sugar, fat) is problematic, and thus: The child cannot use these substances for growth and development. Consumption of milk as a baby food that contains these compounds on the one hand and the inability of the affected baby's body to use these foods, on the other hand, causes the accumulation of these compounds in his body, which can be very dangerous for him and a toxic state for him. Have.

As you know, the prevalence of these diseases among people is very low. It may be thought that these diseases should not be screened according to the standards due to their low prevalence. This is while we, using the Multiplex, MS/MS technique, will be able to evaluate more than 37 diseases by performing only one test. For this reason, the prevalence of these diseases increases from 1 in 1000 to 1 in 1500. Therefore, according to the World Health Organization, screening for these diseases is very appropriate and affordable.

After the birth of the baby, contact the Neonatal Metabolic Diseases Screening Department of HopeGene Medical Institute, and attend the institution at the appointed time. While you are holding your baby, one of the nurse colleagues or the laboratory technician will collect a few drops of a blood sample from the heel of your baby's foot, and then this blood sample will be referred to the newborn screening laboratory. These tests are very simple and risk-free, and the results are obtained in a short time.