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PILOT PROJECT OF
EXTENDED NEWBORN SCREENING

PARENTS’ GUIDE

Dear Parents,

Congratulations on your new family member. You certainly want your baby to grow up healthy. As you anticipate the arrival of your newborn, you will learn lots of information and you will prepare to offer your baby a healthy start. This webpage will introduce you to the METABOMS Extended Newborn Screening Project.

NEWBORN SCREENING

What is newborn screening?

Most babies are born healthy, however, there are rare diseases that show no signs or symptoms at birth. In absence of early diagnosis, they can lead to irreversible developmental deficiencies or even death. To prevent this, it is recommended that newborns undergo medical examinations, such as newborn screening, in their first days of life. By consenting to the newborn screening, you can provide a chance for early detection of potential rare genetic diseases.

The National Newborn Screening Program in Romania currently includes the following investigations:

  • Hearing screening
    is done by otoacoustic emissions, a test that is performed in the maternity ward.
  • Screening for retinopathy of prematurity
    is done through repeated examinations, performed by an ophthalmologist.
  • Screening using laboratory techniques for three metabolic and endocrine disorders: phenylketonuria, congenital hypothyroidism and cystic fibrosis

METABOLIC DISORERS

What are the inborn errors of metabolism?

  • they represent damage to the chemical processes carried out in the human body
  • they interfere with the way the body breaks down food, absorbs and metabolizes the nutrients that ensure normal development and functioning
  • these can be disorders of amino acids, organic acids, fatty acid oxidation disorders, urea cycle disorders, and others;
  • in many cases, metabolic disorders can be treated by simply changing the diet or lifestyle; otherwise, undiagnosed and untreated, they can even lead to death.

Core conditions:

  • Citrullinemia, Type I
  • Classic Phenylketonuria
  • Homocystinuria
  • Maple Syrup Urine Disease
  • Tyrosinemia, Type I


Secondary conditions:

  • Argininemia
  • Benign hyperphenylalaninemia
  • Biopterin defect in cofactor biosynthesis/regeneration
  • Citrullinemia, Type II
  • Hypermethioninemia
  • Tyrosinemia, Type II and III 

Core conditions:

  • 3-Hydroxy-3-Methyglutaric Aciduria
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency
  • ß-Ketothiolase Deficiency
  • Glutaric Acidemia Type I
  • Holocarboxylase Synthase Deficiency
  • Isovaleric Acidemia
  • Methylmalonic Acidemia
  • Propionic Acidemia


Secondary conditions:

  • 2-Methyl-3-hydroxybutyric aciduria
  • 2-Methylbutyrylglycinuria
  • 3-Methylglutaconic aciduria
  • Isobutyrylglycinuria
  • Malonic acidemia
  • Methylmalonic acidemia with homocystinuria

Core conditions:

  • Carnitine Uptake Defect/Carnitine Transport Defect
  • Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency
  • Medium-chain Acyl-CoA Dehydrogenase Deficiency
  • Trifunctional Protein Deficiency
  • Very Long-chain Acyl-CoA Dehydrogenase Deficiency


Secondary conditions:

  • 2,4 Dienoyl-CoA reductase deficiency
  • Carnitine acylcarnitine translocase deficiency
  • Carnitine palmitoyltransferase type I and II deficiency
  • Glutaric acidemia type II
  • Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
  • Medium-chain ketoacyl-CoA thiolase deficiency

METABOMS

What does METABOMS offer you?

  • an extensive set of tests for the extremely fast detection of more than 32 inborn metabolic disorders (list above);
  • the tests are done by using the same sample collected for the newborn screening included in the National Program;
  • in case of suspicious results for the analyzed metabolites, additional tests are required to confirm a diagnosis.

METABOMS screening is FREE for all babies born between July 2023 - April 2024.

The METABOMS pilot project aims to expand the number of congenital metabolic disorders detectable at birth that can significantly impact the child’s development if not promptly addressed.

How is the newborn screening performed,
including extended screening through the METABOMS pilot project?

1

A few drops of blood are collected from the newborn's heel within the first 48-72 hours of life (postnatal day 2-3) using a special collection paper

2

The sample is sent for analysis to the Regional Newborn Screening Laboratory

3

The Regional Laboratory performs the 3 tests included in the National Newborn Screening Program, while the METABOMS laboratory performs the tests for the extended screening.

4

If concerning results are obtained (outside normal limits for a particular metabolite) after two measurements of the initial sample, the parents will be informed and asked to provide another sample for further investigations. Therefore....

NO NEWS = GOOD NEWS

5

In the case in which the analysis of the second sample confirms previous findings (metabolites outside normal limits), the parents will be notified and directed to contact the neonatologist for further guidance.

6

For establishing the diagnosis of an inborn metabolic disorder highlighted following the newborn screening, the parents are required to contact the clinic recommended by the neonatologist.

7

All newborns will be included in the screening program based on parents’ consent. Data processing and the transmission of suspicious results are done in compliance with the legal regulations for the National Newborn Screening Program, METABOMS being a pilot project complementary to the national one.

Download the leaflet

METABOMS is funded by the “Challenges in public health at European level” Programme – EEA Financial Mechanism 2014 – 2021, with the financial support from Iceland, Liechtenstein and Norway through the EEA and Norway Grants and the Ministery of Health Romania, within the project entitled “Improving access to preventive health services by developing an analytical laboratory and a pilot neonatal screening program for vulnerable groups, including Roma” AP1.26/ Financial contract no. AR19183/27.10.2022. Project budget 958.298 Euro. Project Director Prof. dr. Anca Dana Buzoianu.