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POST-NATAL EXOME SCREENING

From diagnosing it later to finding it earlier.

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POST-NATAL EXOME SCREENING

From diagnosing it later to finding it earlier.

A healthy newborn may already carry a genetic condition before any symptoms appear.

Pregnancy may have been uneventful.

Routine newborn screening may be normal.
Even genomic newborn screening may be normal.
And no specific clinical symptoms may be present at birth or in the following weeks.

The question is not whether disease is visible today,

but whether something clinically relevant may emerge soon.

From diagnosing it later to finding it earlier.

DIAGNOSTIC
PEDIATRIC EXOME Symptoms are
already present

POST-NATAL
EXOME SCREENING The child
appears healthy

PREDICTIVE / PROACTIVE
GENOMICS Future health is
explored in the adult

Parents are not asking to know everything for the prediction of a child’s lifetime.

They want to know whether a genetic condition may already be present, and whether this could disrupt development during infancy, childhood or adolescence.

The prupose is to to look ahead where it may matter for the child’s development.

EXOME PLUS POST-NATAL is designed to detect pediatric disorders before their time,

particularly when early diagnosis may create opportunities for earlier intervention.

From speech therapy in developmental and speech disorders

to enzyme replacement therapy in selected metabolic diseases.

Parents’ objectives and the child’s clinical history, to start with: each case is considered individually during the genetic consultation.
Broader testing, to end with: whole exome or whole genome sequencing, solo or trio.

From diagnosing it later to finding it earlier.

Can a healthy newborn already have a genetic disease?

Explore the Clinical Situation →

Post-natal exome as a deeper newborn screening

Post-natal genomic screening uses whole exome sequencing (WES) or whole genome sequencing (WGS) to investigate genetic diseases and syndromes that may become clinically relevant during infancy, childhood or adolescence. Designed for apparently healthy newborns, the analysis can be performed as solo or trio sequencing and is clinically tailored to the child and family history, with particular attention to pediatric conditions for which earlier diagnosis may support surveillance, specialist care or early intervention.

Remote consultation

For physicians

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