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Table 1 Glossary of terms

From: Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

Glossary of terms  
Pre-conception carrier screening Allows determining whether a couple is at risk of conceiving a child with a genetic disorder
Pre-implantation diagnosis Is the genetic profiling of embryos prior to implantation in case of In Vitro Fertilization (IVF) procedures
Prenatal screening Takes place at the early stages of pregnancy and aims to detect whether a foetus is affected by a list of conditions
Newborn screening Takes place shortly after birth and aims to detect if an infant is affected by a list of conditions
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