To evaluate the clinical accuracy of the IONA® test for aneuploidy screening. In this multi-centre, blinded study samples from pregnant women at increased risk of trisomy 21 underwent cell-free DNA analysis utilizing the IONA® test. For... more
To evaluate the clinical accuracy of the IONA® test for aneuploidy screening. In this multi-centre, blinded study samples from pregnant women at increased risk of trisomy 21 underwent cell-free DNA analysis utilizing the IONA® test. For each sample the IONA Software generated a likelihood ratio and a maternal age adjusted probability risk score for trisomies 21, 18 and 13. All results from the IONA® test were compared against accepted diagnostic karyotyping. Of the 442 samples, results from 437 were available for analysis and assessment of clinical accuracy. The IONA® test had a detection rate of 100% for trisomies 21 (43 cases, 95% CI 87.98 to 100%), 18 (10 cases, 95% CI 58.72 to 100%) and 13 (5 cases, 95% CI 35.88 to 100%) with cut-offs applied on a likelihood ratio (Cut off >1 considered high risk of trisomy) and a probability risk score incorporating adjustment for maternal age (Cut off ≥1/150 considered high risk of trisomy). The false positive rate (FPR) was 0% for trisomie...
Research Interests:
Perinatal palliative medicine is an emerging subspecialty within paediatric palliative medicine, neonatal medicine, fetal medicine and obstetrics. It comprises patient-focused, non-judgemental shared decision-making and aims to provide... more
Perinatal palliative medicine is an emerging subspecialty within paediatric palliative medicine, neonatal medicine, fetal medicine and obstetrics. It comprises patient-focused, non-judgemental shared decision-making and aims to provide holistic multidisciplinary support for families. In this paper we define and describe one model for providing perinatal palliative care, drawing on the personal and professional experience of the authors.
