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Reproductive genetic carrier screening (RGCS) is a preventive health strategy performed to identify healthy couples and individuals who are at increased chance of having a child affected by a serious, childhood onset autosomal recessive or X‐linked genetic condition.

When provided before conception or early in pregnancy, RGCS allows for increased chance couples to make informed reproductive choices for current or future pregnancies, and may reduce the chance of having an affected child or allow optimisation of health care requirements for an ongoing pregnancy.

This MJA Perspective shares more.

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Authors: Alice P Rogers, Lara Fitzgerald, Jan Liebelt and Christopher Barnett

Article Type: Perspective