Mother, Daughter and Child's Daughter

Women and Newborn Health Service

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King Edward Memorial Hospital

Genetic Services of Western Australia

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Health Professionals

Obstetrics and General Genetic Services (OGGS) - Referral Guidelines

As a general rule, patients who would benefit from a referral to OGGS would fit into one of the following categories:

  • An adult with a clinically relevant chromosomal abnormality or features suggestive of a genetic disorder
  • An adult who is a carrier of a recessive condition where the partner is also a carrier, particularly if the patient is considering pregnancy
    • cystic fibrosis
    • a significant haemoglobinopathy
  • A family history of a specific genetic disorder, particularly if the patient is considering pregnancy
  • Planned or confirmed pregnancy between close relatives (consanguinity)
  • Diagnosis of a fetal anomaly and the patient requires counselling
  • Known diagnosis of Marfan Syndrome (please ensure the patient has had an examination of the heart and ascending aorta via echocardiogram and has been reviewed by an ophthalmologist)
  • Significant connective tissue or joint hypermobility syndrome which is usually characterised by one of more of the following features:
    • Excessive bruising
    • History of arterial/intestinal/uterine/globe fragility or rupture
    • Severe generalised joint hypermobility with recurrent subluxations
  • Diagnosis of specific cardiac condition where there may be an underlying genetic cause, e.g.:
    • Long QT syndrome
    • Brugada syndrome
    • Catecholaminergic polymorphoic ventricular tachycardia (CPVT)
  • Severe hearing loss that where there may be an underlying genetic cause. The hearing loss must be congenital, severe and bilateral. An appointment may also be offered if:
    • There is a significant family history
    • The hearing loss if thought to be a part of a syndrome
    • Imaging has shown associated structural anomalies.

Please note we do not routinely accept referrals for the following:

  • Increased risk on routine antenatal screening (please contact the Maternal Fetal Medicine Service on 6458 2705)
  • History of exposure to teratogens during pregnancy (please contact the Obstetric Medicines Information Service on 6458 2723)
  • History of multiple miscarriages (unless a genetic cause is detected on karyotyping, such as a translocation)
  • Paternity testing
  • MTHFR gene-related concerns

Should you have any queries regarding your patient and their suitability for referral to our service, please do not hesitate to contact the duty genetic counsellor to discuss. You can get in touch on 6458 1525.

We do not have a specific referral form for OGGS. Please make sure you include the following pertinent details:

  • Patient demographics - full name, DOB, address and telephone number
  • Reason for referral
  • Relevant personal and family history
  • Copies of relevant test results
  • Referrer's name and practice address and telephone number
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