To the Editor: The authors of a recent Guttmacher–Lancet Commission article1 point out that Australia is a signatory to the United Nations Sustainable Development Goals, which nominate sexual and reproductive health as rights. The key focus of the article on the Guttmacher–Lancet Commission is around human immunodeficiency virus and sexually transmitted infections, unintended pregnancy, contraception, abortion, and sexual violence.1 These are all important reproductive health rights to address. While the Guttmacher–Lancet Commission also includes maternal and newborn health, there is no mention of reproductive carrier screening. Reproductive carrier screening involves testing prospective parents — before pregnancy, ideally, or in the early stage of pregnancy — for carrier status for autosomal recessive and X‐linked recessive disorders, and giving reproductive choices to people at increased risk of having an affected child. These choices include pre‐implantation genetic diagnosis, prenatal diagnosis by chorionic villus sampling or amniocentesis, donor gametes or embryos, adoption, having no children, or ignoring the risks. Most couples with or at risk of having an affected child have no family history, which is typical for recessively inherited diseases. Reproductive carrier screening is available in Australia, although only through a fee‐for‐service mechanism, but most couples are unaware of its availability. Currently, screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy is available,2 and in the future we may be able to screen for a vastly expanded number of diseases. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has recently released a position statement to recommend that all women, either before pregnancy or in the first trimester, should be offered carrier screening for inherited conditions.3 Reproductive carrier screening should be a routine part of pregnancy care and should be considered a health care right.
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