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Reproductive genetic carrier screening - is more better?
Originally published December 2019
What's so important about carrier screening?
It is estimated that 1-2% of couples have an increased chance of having a child with an autosomal recessive or X-linked genetic condition (1). In most cases, people have no knowledge of their genetic risk prior to having a family (2) and only become aware of their carrier status once an affected child is born (3).
Despite recommendations, research suggests most healthcare providers are not routinely offering carrier screening to their patients preconception or in early pregnancy (2,9).
Towards expanded carrier screening - is more better?
Answer: It depends on the conditions screened, how screening is offered and the carrier frequency of those conditions.
In the expanded carrier screening context, access to expert laboratory and genetic counselling services becomes essential for appropriate interpretation and management of results.
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