EXTENDED NEWBORN METABOLIC SCREENING

Dear future mommy,


Soon you will experience a miraculous event, the most moving of your life: the birth of your baby. Whether it is your first time or you have other children, you know very well that your baby’s health depends entirely on you: you are the one who makes decisions for their well-being now, as well as in the future. Like any mother, you want a wonderful world for your child, and the first and most important step on the path to this world is ensuring their health.

In developed countries, ENS is a routine and mandatory analysis performed for every newborn.

WHAT IS EXTENDED NEWBORN METABOLIC SCREENING?

The first gift you can offer your baby!

Extended Newborn Screening is a test that allows for the identification of children with metabolic, endocrinological, or hematological conditions before clinical signs appear, thus preventing complications or minimizing their negative effects. The test requires a few drops of blood on a special filter paper, collected shortly after the child’s birth.

The appearance of clinical signs coincides with severe and possibly irreversible health damage. Untreated early, these conditions lead to growth retardation, damage to various organs, mental retardation, and, sometimes, death.

WHAT IS METABOLIC SCREENING
It is well known that the food consumed is transformed in the body into simpler elements – proteins, fats, and carbohydrates – which are then used for the synthesis of the body’s components and for producing the energy necessary for its activities. The transformation processes undergone by food are known as metabolism.


Initial metabolic events are triggered the moment food reaches the stomach and digestion begins. Different types of enzymes help break down digested food into simple substances. These are absorbed by the body’s cells, where their transformation into new substances and energy needed for other body processes continues.


Metabolic disruption as a result of an inherited or acquired condition causes abnormal biochemical reactions in the body and leads to the appearance of metabolic diseases, also known as innate errors of metabolism. In the first period of life, there can be a symptom-free interval, which can be followed by signs of acute intoxication (vomiting, liver failure, seizures, coma) or chronic intoxication (cardiomyopathy).

WHEN IS THE SCREENING PERFORMED?

This test should be performed on all apparently healthy newborns: any clinically healthy person can be a carrier of a causative mutation for a metabolic disease without showing symptoms.

In the event that both parents are carriers and each of them transmits the mutation to their child, the child will be affected. Consequently, it is recommended that all parents consider performing this test for their newborn baby.

Cytogenomic Medical Laboratory collaborates with several hospitals and clinics across the country. However, if the birth takes place in a hospital that is not among our collaborators and you wish for your baby to benefit from the Extended Metabolic Screening for over 51 conditions, you can pick up the collection kit from our headquarters and request the maternity staff to collect the sample.

In the event that both parents are carriers and each of them transmits the mutation to their child, the child will be affected. Consequently, it is recommended that all parents consider performing this test for their newborn baby.

HOW IS NEWBORN SCREENING PERFORMED?

This analysis is performed from blood spots on filter paper, collected directly in the maternity ward by specialized personnel, within the first 48 – 72 hours after the initiation of feeding.

This analysis is performed from blood spots on filter paper, collected directly in the maternity ward by specialized personnel, within the first 48 – 72 hours after the initiation of feeding.

Particularly important, for the accuracy of the results, correctly collected samples are required.

The high-performance liquid chromatography and mass spectrometry system (LC-MS/MS) at Cytogenomic Medical Laboratory is the newest and most efficient equipment, allowing for the simultaneous detection of over 51 such conditions. Cytogenomic Medical Laboratory uses reference values for the analyzed metabolic parameters characteristic of the Romanian population, with the mass spectrometry study beginning nearly a year before the official introduction of this test.
In the event that the Extended Newborn Screening results do not fall within normal limits, it does not necessarily mean that a metabolic disorder exists; sometimes additional investigations are necessary to confirm the diagnosis. Generally, there are two reasons why repeating the test may be necessary: (1) the sample was collected improperly, or (2) the test results do not fall within normal limits – in this situation, the results report will include indications regarding the timing and conditions for collecting a new sample.

Cytogenomic Medical Laboratory benefits from the support of a team of physicians specialized in metabolic dysfunctions who will collaborate both with primary care physicians and with parents for the complete clinical evaluation of the child and the establishment of subsequent diagnostic tests. Being a genetic laboratory that offers high-standard services, Cytogenomic has experience in supporting and continuing the investigation of cases with high metabolic risk.