Non-Invasive Diagnostic Test for Prediction of Pregnancy Complications
Overview: Researchers at the University of Adelaide have identified a suite of genetic markers associated with increased risk of pregnancy complications. On average 25% of first time pregnancies in Australia are affected by one or more of four major complications: preeclampsia, preterm birth, intrauterine growth restriction and gestational diabetes.
Pregnancy complications can be associated with lifelong health risks for mothers and babies. There are currently no effective methods for screening available for these complications, and prediction of complications in first time mothers currently is impossible. World wide demand for this non-invasive screening test (NIPT) is expected to be very high, in particular when we consider the almost universal use of the NIPT down syndrome test in Australia alone.
The University of Adelaide is part of the international SCOPE (SCreening fOr Pregnancy Endpoints) program, which has recruited 5628 patients globally, taking samples from mother, baby and father to build a pregnancy Biobank to screen candidate markers of pregnancy disease. Clinical, lifestyle and family history data was also recorded for each patient. Researchers at the Robinson Research Institute at the University of Adelaide have identified a suite of genetic markers associated with complications of pregnancy including preeclampsia, preterm birth, intrauterine growth restriction and gestational diabetes. A targeted approach was undertaken to identify genomic markers that associate with poor placentation and therefore could be predictive of the continuum of pregnancy complications such as miscarriage, preterm birth and preeclampsia.
Using this approach, a number of polymorphisms have been identified in the mother and father that, together with family history, clinical and lifestyle factors, are associated with an increased risk for pregnancy complications. Screening algorithms have been developed for all four major pregnancy complications using data from Australian (Adelaide) and New Zealand (Auckland) SCOPE cohorts (3200 pregnant women in total). These two cohorts were significantly different from each other in terms of socio economic and lifestyle factors, resulting in robust algorithms when using these factors. The algorithms will now be validated on the additional ~2500 UK samples from the SCOPE study, and data collected from a new cohort of pregnant women across Australia. Collaborations are also being established with partners in the US for validation in international markets.
The final product is envisioned as a blood test for women at 12-15 weeks of pregnancy, for identification of SNP’s in combination with clinical and lifestyle factors to be entered into an on-line database. Results for each complication will then be provided in terms of low, moderate and high risk for each patient.
Commercial Applications:An algorithm has been developed to be used as a screening tool for clinical management of first time mothers based on results obtained from 3200 pregnant women in Adelaide (Australia) and Auckland (New Zealand).
The algorithms combine subtle variations in DNA sequences in genes involved in placental development with clinical, socioeconomic, lifestyle and family history data. A number of the markers identified are present in the father and mother, also raising the possibility that a prenatal genetic test is possible.
The test may also be expanded to provide pre-conception advice to women regarding their risks and associated management of lifestyle factors, which could be altered in order to potentially minimise risk.
Intellectual property protection: In March 2015 ARI filed a provisional patent application "Algorithms that predict risks for pregnancy complications" to protect this technology.
Partnering Opportunities: Currently, we are seeking partners for the continued development of this technology and/or prospective licensees.