Newborn Screening


Expanded Newborn Screening (ENS) for all newborns

August 2016 saw the passing of Bill 167, envisaging that all newborns in Italy undergo free-of-charge Expanded Newborn Screening (ENS) few hours after birth. The test enables to early identify about 40 genetic metabolic disorders, difficult to diagnose yet easy to detect through ENS. Treatments and cures for such diseases already exist, and their early use during the first days after birth, before the symptoms are visible, can significantly increase a child's quality of life or even prevent death. At present, about 800 inherited metabolic disorders affecting metabolic biochemistry are known: about 40 of which can be early detected just a few days after birth.

Expanded Newborn Screening is now a right for any child, irrespective of his/her birthplace

Before Bill 167, a regional screening was performed on nearly all newborns in Italy to identify only three diseases: phenylketonuria (PKU), congenital hypothyroidism (CH) and cystic fibrosis (CF). There were few birth centres where children could undergo expanded screening: in 2015 only one child out of two underwent ENS for multiple metabolic disorders and the amount of disorders screened for changed according to the area. An unacceptable disparity with severe consequences for ill babies: the difference between life and death, between a good quality of life and disability.
 All Italian Regions have adapted, or are adapting to the regulation, hence coupling the regional screening panel with Expanded Newborn Screening (ENS). The hope is that within the first months of 2018 will see full coverage across the Italian territory and that all Birth Centres can screen about 40 disorders envisaged by the regulation (MD. 13-10-2016), hence enlisted in the official panel required by law.

Why Expanded Newborn Screening?

Early identification of about 40 inherited metabolic disorders enlisted in the official panel means offering hope to survive and a better quality of life to an ill baby.
This happens because such disorders are otherwise very difficult to detect since their onset includes a vast array of symptoms and/or they degenerate very quickly, in some cases even within a few hours. Early intervention through drugs and tailored diets can limit irreversible damages to the brain and organs which may lead to cognitive and physical disabilities that are often severe or even to the baby's death. Estimates indicate that 1 newborn out of 1,500 is affected by a disorder detectable through screening.

How it works

Between 48 and 72 hours after birth, or before the baby is homed from the Birth Centre, a small blood sample is taken from the baby's heel and then blotted and dried on filtered paper (Dried blood spot). The sample previously used to screen phenylketonuria, congenital hypothyroidism and cystic fibrosis (compulsory regional screening), is now used to screen 40 disorders. No further samples are then needed. The Birth Centre ships the sample to its regional or interregional reference Screening Centre with delivery within 24/48 hours. The Screening Centre shall analyse the sample on the arrival day or on the following day.

Parental information and Informed Consent

Before the test is performed, a Medical Doctor/Operator of the Birth Centre gives the family a privacy policy to be read and signed, illustrating why and how the test will be performed, the disorders screened for, preservation methods of the blood spot and treatment of data. The test is free and compulsory, hence Parental informed consent is not required. Yet, informed consent is necessary if the Region the baby was born in has included further new disorders in the test, which are not yet enlisted in the panel of 40 disorders required by law. There are no contraindications: the test is not invasive and cannot harm the baby in any possible way.

A negative test bears no response. But what happens if the test is positive?

The screening centre does not communicate negative results, only positive risk profiles are contacted through the Birth Centre. Caution: positive results do not always mean there is a disorder. Test results can be positive due to the extreme sensitivity of the device used for the analysis or due to the way the test was performed. Premature birth of even just a few days, low birth weight, drug support and parenteral nutrition can all lead do positive test results. For premature newborns, babies with lower gestational weight, undergoing parenteral nutrition or homed before 48 hours of life, however, the blood sample has to be taken before homing, but it shall be repeated within the first month of life, according to scientific protocols and evidence. Do not be afraid then, serenely rely on your Birth Centre that will provide you with all the necessary information to continue your baby's health follow-up. If the test is positive, the protocol foresees that the baby is referred for follow-up care with varying time and mode according to the type of ‘suspected’ disorder. If the disorder requires immediate therapy, the parents shall be asked to bring the baby to the reference Clinical Centre to undergo a timely first treatment and to confirm the suspect diagnosis (patient management). If the disorder is not immediately degenerative, the baby can be referred for a second screening that may lead to a negative or positive result. If positivity is confirmed, the baby shall be monitored through one or two blood samples and in case of positive result the parents shall be asked to bring their baby to the reference Clinical Centre for treatment and diagnosis confirmation (patient management). To confirm the molecular genetic diagnosis of a hereditary metabolic disorder, the Clinical Centre collects the Parental informed consent (See informed consent sample). The confirmation of diagnosis for the disorder can take many weeks. Meanwhile, the baby shall receive all possible treatments for the disorder, including preemptive treatments. (See Diagnosis, certification, exemption, click here)

What hereditary metabolic disorders are targeted by “Expanded Newborn Screening”?

Ministerial Decree 13-10-2016 lists the pathologies included in the Expanded Newborn Screening panel, namely:

GRUPPOMALATTIASIGLA
AA
Fenilchetonuria

PKU

AA
Iperfenilalaninemia benigna

H-PHE

AA
Deficit biosintesi cofattore biopterina

BIOPT (BS)

AA
Deficit rigenerazione cofattore biopterina

BIOPT (REG)

AA
Tirosinemia tipo I

TYR I

AA
Tirosinemia tipo II

TYR II

AA
Malattia delle urine allo sciroppo d’acero

MSUD

AA
Omocistinuria (deficit di CBS)

HCY

OA
Acidemia glutarica tipo I

GA I

OA
Acidemia Isovalerica

IVA

OA
Deficit del Beta-chetotiolasi

BKT

OA
Aciduria 3-Idrossi 3-metil glutarica

HMG

OA
Acidemia Propionica

PA

OA
Acidemia Metilmalonica (Mut)

MUT

OA
Acidemia Metilmalonica (CblA)

Cbl A

OA
Acidemia Metilmalonica (CblB)

Cbl B

OA
Acidemia Metilmalonica con Omocistinuria (CblC)

Cbl C

OA
Acidemia Metilmalonica con Omocistinuria (CblD)

Cbl D

OA
Deficit del 2-Metil butirril-CoA deidrogenasi

2MBG

OA
Aciduria Malonica

MAL

OA
Deficit Multiplo delle carbossilasi

MCD

UCD
Citrullinemia tipo I

CIT

UCD
Citrullinemia tipo II (deficit di Citrina)

CIT II

UCD
Acidemia Argininosuccinica

ASA

FAO
Deficit del trasporto della carnitina

CUD

FAO
Deficit di Carnitina palmitoil-transferasi (L)

CPT Ia

FAO
Deficit Carnitina/acil-carnitina translocasi

CACT

FAO
Deficit di Carnitina palmitoil-transferasi II

CPT II

FAO
Deficit dell’acil CoA deidrogenasi a catena molto lunga

VLCAD

FAO
Deficit della proteina trifunzionale

TFP

FAO
Deficit dell’idrossiacil CoA deidrogenasi a catena lunga

LCHAD

FAO
Deficit dell’acil CoA deidrogenasi a catena media

MCAD

FAO
Deficit del 3-OH acil-CoA deidrogenasi a catena media/corta

M/SCHAD

FAO
Acidemia glutarica tipo II

GA2

Disturbi Metabolismo trasporto carboidrati
Galattosemia

GAL

Disturbi del Metabolismo trasporto aminoacidi
Difetto di biotinidasi

BTD

AA
Tirosinemia tipo III

TYR III

AA
Deficit di glicina N-metiltransferasi

GNMT

AA
Deficit di Metionina adenosiltransferasi

MAT

AA
Deficit di S-adenosilomocisteina idrolasi

SAHH

OA
Acidurie 3-metil glutaconiche

3MGCA

OA
Deficit del 3-Metil crotonil-CoA carbossialsi

3MCC

OA
Aciduria 2-Metil 3-idrossi butirrico

2M3HBA

OA
Deficit del Isobutirril-CoA deidrogenasi

IBG

FAO
Deficit dell’acil CoA deidrogenasi a catena corta

SCAD


Other disorders included in the screening

Some disorders have already been enlisted in many regional screening programmes and prevention has proven effective in case of: Congenital adrenal hyperplasia, some Lysosomal storage diseases, Severe combined immunodeficiency (SCID), GAMT deficiency, some Hemoglobinopathies. More shall soon be added, such as: X-linked adrenoleukodystrophy, Argininosuccinic aciduria, Ornithine transcarbamylase (OCT) deficiency, other Immunodeficiencies/trek. For such disorders, not yet included in the compulsory panel, the screening shall require the Parental informed consent. (See informed consent sample).

Some disorders included in the screening panel can have an extremely early onset

Parents should be aware that some disorders included in the official screening panel can also have a very early onset, within 3-5 days after the baby is born or a little later, according to the severity of the disorder (the same disorder may also have different degrees of severity). The disorder can, though quite rarely, have an onset before the test results are known (types of hyperammonemia and organic aciduria).

FROM AISMME ONLUS TO THE FAMILIES:

  • Before the baby is born, collect information on the screening tests your baby will undergo
  • In case of negative results you shall not be called
  • If you are called for further checks it does not mean your baby is ill: further tests will eventually confirm the diagnosis
  • If you are called for further checks and the following tests are negative, please remember that your unease is useful for all those babies whose diagnosis is confirmed: a preemptive medicine program of this kind cannot be thought of as a single-case intervention, but as an intervention on a newborn community as a whole. Not only this: the natural history of these diseases will change, because for the first time they will be observed before the onset of symptoms. The higher the amount of newborns getting screened, the higher the likelihood of perfecting diagnostic procedures for new rare metabolic disorders and to study their mechanisms. All information gathered shall contribute to enhance diagnosis and treatment, also thanks to your family.

For further information please contact: Questo indirizzo email è protetto dagli spambots. È necessario abilitare JavaScript per vederlo. or dial the toll-free number 800.910.206
Further information available on the Facebook/AISMME


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