Neonatal metabolic disease screening

Neonatal screening testing is necessary because many metabolic genetic diseases can be kept asymptomatic if detected and treated in time; conversely, neglecting them causes serious complications.

What is the essence of screening for metabolic and hereditary diseases of the newborn?

In most European countries screening for metabolic genetic diseases is free and mandatory. In Romania, such screening was introduced in 2009 and is currently performed only for 3 types of genetic diseases: – phenylketonuria, congenital hypothyroidism and, recently, also for cystic fibrosis, – in contrast to most European countries, where such screening neonatal covers approx. 20-30 diseases. Recognizing the importance of metabolic screening in Romania is the responsibility of parents. In most neonatology departments, it is possible to collect samples, at the request of the parent, for the extended metabolic screening of the newborn, for a fee. The procedure consists of collecting a few drops of blood on a special paper in the neonatology ward, then sending the sample to our research laboratory, where analyzes are performed for more than 47 metabolic genetic diseases.

Why is this testing important for my child?

Neonatal metabolic screening is a very important step to ensure that your baby is healthy and can be safely discharged from the hospital. These tests can provide information about serious diseases whose symptoms do not appear in the first days. Symptoms may appear weeks or months after birth. By recognizing these diseases early and treating them properly, we can ensure a healthy life for children.

How is the testing performed?

We take a few drops of blood from the baby’s heel on a filter paper. Blood sampling is safe and does not endanger the baby. The blood sample is transported to the metabolic screening laboratory. We will carry out the necessary tests there in a few days. If we find an abnormal result, we report it to the institution that took the sample, the doctor and the child’s parents.

What diseases is my child tested for?

The sample is tested for a) diseases that manifest as a result of an energy deficit affecting cellular metabolism, b) cystic fibrosis, c) the disease that affects the production of thyroid hormones (congenital hypothyroidism). The first category includes aminoacidopathies, disturbances in the metabolism of fatty acids, abnormalities in the metabolism of organic acids), biotinidase deficiency.

What is the cause of my child’s genetic metabolic disease?

Most commonly, genetic metabolic diseases are inherited from parents. In this case, each of the parents of the sick child carries one normal and one abnormal gene; as a result, the parents usually show no symptoms (they are asymptomatic carriers). If the child inherits the same abnormal gene from both parents, it will become sick.

Why is retesting sometimes needed?

Blood sampling is ideally performed 48 – 72 hours after birth. This makes it possible to recognize the disease in a timely manner. However, in cases where the results are inconclusive (for various reasons: the baby did not consume enough milk, was born prematurely, had an infection, received infusions, etc.), your child will need to repeat the test in a few days or weeks later. A second blood test does not automatically mean that the baby is sick, but doing it is very important to establish a positive or negative diagnosis in inconclusive cases. Therefore, if you receive a call for a second blood test, it is very important not to delay. The second sample in inconclusive cases helps the geneticist to confirm whether the child is healthy or whether a metabolic disease is still suspected. Retesting is free.

What if the test results indicate a suspected metabolic disease?

If we suspect there is a problem with your child, we will notify both you (the parents) and the medical staff caring for them immediately. We will then carry out additional tests to confirm or rule out the existence of the disease, if necessary. If the disease is confirmed, the child is redirected to special care centers and clinics. Our laboratory will notify the parents within a maximum of 5 days after receiving the blood sample.

How can children with metabolic diseases be treated?

Currently, these diseases cannot be cured. However, with early treatment, we can reduce or prevent the onset of symptoms. Treatment is mainly based on a special diet, food supplements, drugs or a combination of these.

What happens to the blood sample after the test?

Blood samples are stored in the laboratory under safe conditions for several years. Processing of samples for the purpose of other tests (eg medical research) can only be done anonymously, without the use of personally identifiable data. If it is necessary to identify the person for the test, this can only be done with the prior written consent of the parent.