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- Maternal and Genetic Carrier Screening
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- Pathology Collection Guide
Maternal and Genetic Carrier Screening
The following forms and guidelines are available to clinicians to provide information to patients and for the ordering of tests.
|Maternal Serum Screening Test Form||PUB-0452|
|Reproductive Carrier Screening Test Information||PUB-0804|
|Medicare Rebatable Carrier Screening Test Information||PUB-0805|
|Genetic Carrier Testing CF, FXS, SMA - Agreement to Pay||PUB-0806|
Omega-3 status test for prematurity risk
SA Pathology now provides testing omega-3 levels for women with singleton pregnancies, with the data informing the South Australian Health and Medical Research Institute (SAHMRI)’s world-leading study assessing the efficacy of omega-3 supplementation in reducing early preterm births.
Requesting providers may offer the omega-3 status test to all women with singleton pregnancies before 20 weeks’ gestation. SA Pathology and SAHMRI perform Omega-3 analysis at no cost to the patient or health service using serum collected as part of the established SAMSAS program.
For further information about omega-3 testing and results interpretation, please visit sahmri.org/omega3 or call the omega-3 status test hotline on 0438 273 155.
To order hardcopy maternal serum screening test request forms please call the SAMSAS Program on (08) 8161 7285.
Non-invasive Prenatal Testing (NIPT)
SA Pathology is now providing blood collection services for non-invasive prenatal testing (NIPT) for pregnant women across South Australia.
NIPT, or nest screening, is performed using whole genome sequencing of cfDNA to determine the chance of a chromosome condition in the pregnancy. It is performed any time after 10 weeks gestation using a blood sample taken from the pregnant woman and does not pose any risk to the fetus. Nest has a high sensitivity and specificity for common chromosome conditions such as Trisomy 21, 13 and 18, and has the potential to detect chromosome changes down to 7Mb in size.
Women seeking this testing can attend any of SA Pathology’s collection centres located across metropolitan and regional South Australia.
Request forms are available for download from the SA Pathology Test Catalogue or nestscreen.com.au. Clinicians are requested to write NEST on the request form. An NIPT – Agreement to Pay form must also accompany the sample.
For more information regarding Nest or Nest+, see nestscreen.com.au