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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Genetic Testing › Newborn Screening › Who should have newborn screening done?
Who should have newborn screening done?
Newborn screening is recommended for every baby, without exception, and this is worth explaining clearly to parents. It is a common misunderstanding that only babies with a family history of a genetic condition need to be screened. In reality, the vast majority of babies found to have one of these conditions have no family history of it at all. The condition can occur even when both parents are healthy and have no known genetic disorders in the family.
That said, newborn screening becomes even more important in certain situations, and parents in these situations should discuss an expanded screening panel with their doctor:
*When there is a known genetic or metabolic condition in the family
*When one or both parents are known carriers of a genetic condition
*When the parents are blood relatives (a consanguineous marriage), which increases the chance of certain inherited conditions
*When a previous child in the family was diagnosed with a treatable genetic or metabolic condition
*When the pregnancy or delivery involved complications that raise the baby’s risk
In these situations, a clinical geneticist may recommend testing for a wider range of conditions than what is included in the standard newborn screening panel offered at most hospitals.