Clinical Opal #10 - Pre-conception care
Kelly, aged 28, presents for an appointment as she is planning a pregnancy with her husband. She has no significant medical history, is nulliparous, is a non-smoker, has normal body weight, maintains a healthy diet and exercise routine, and has a contraceptive implant in situ.
You discuss with Kelly various aspects of pre-conception care, including starting a supplement containing folate and iodine, avoiding alcohol, checking routine antenatal bloods, ensuring cervical and STI screening is up to date, and making plans for timing removal of her contraceptive implant.
Is there anything else you would discuss with Kelly?
Good pre-conception care should include discussion of reproductive carrier screening. Inherited genetic conditions affect up to 1 in 400 people, and a healthy couple can pass on genetic conditions to their children without realising they are carriers.
The most common autosomal recessive conditions are thalassaemia and cystic fibrosis, whilst Fragile X Syndrome is the most common X-linked recessive condition.
Both the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the Royal Australian College of General Practitioners (RACGP) recommend that information on genetic carrier screening be offered to all couples planning pregnancy or in early pregnancy. Options for carrier screening include screening for a limited selection of the most frequent conditions (e.g. cystic fibrosis, spinal muscular atrophy and fragile X syndrome) or screening with an expanded panel for up to hundreds of disorders. For individuals of Ashkenazi Jewish descent, additional carrier screening should be offered for specific conditions known to affect these individuals.
All pregnant women should be offered screening for thalassaemia carrier status with at least an FBC at initial presentation. All couples planning pregnancy should have a comprehensive genetic history taken, with referral to a specialist genetics service if there is a family history of an inherited disorder.
In May 2018, the Australian Government announced $500 million towards genomics research, starting with a $20 million study of reproductive genetic carrier screening, called Mackenzie’s Mission.
Mackenzie’s Mission offers expanded panel couples screening to up to 10,000 couples across Australia, allowing prospective parents to gain information about their likelihood of having a child with any of these genetic conditions.
The three-year research study aims to determine the evidence for making free reproductive genetic carrier screening available to all couples in Australia who wish to have it. Recruitment to Mackenzie’s Mission will conclude at the end of March 2022.
Outside of Mackenzie’s Mission, clinicians can refer for genetic carrier screening through private laboratories. There is currently no Medicare rebate available for this testing.
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Sally Sweeney is a general practitioner with expertise in sexual and reproductive medicine and over 16 years clinical experience. Sally works in private practice in Newcastle, and for Family Planning NSW. Sally is a Conjoint Senior Lecturer with the School of Medicine & Public Health, University of Newcastle, and has been a past clinical examiner for the Royal Australian College of General Practitioners. She has published peer reviewed papers in the field of sexual and reproductive health.
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