Michael J Sinosich
DHM Pathology, Australia

Title: Case studies of prenatal screening
Time: 11:30 - 12:30 (Special Session)


Michael J Sinosich has completed his PhD on Trophoblast Physiology and PAPP-A. His research interests include non-invasive assessment of fetomaternal wellbeing. He is the Director of Prenatal Testing (DHM Pathology) and serves as Consultant at Pictor Ltd, a developer and manufacturer of multiplexed microELISA assay platform. He has published/presented numerous papers in reputed journals and holds several patents.

Research Interest


Prenatal screening is the process by which we identify a population of pregnancies considered at increased risk for a disorder, such as, trisomy 21. Whilst some screens may be clinically more efficient at detecting targeted abnormalities, it should not be forgotten that, prior to initiation of clinical management, ALL abnormal screens should be followed with diagnostic investigations. In this presentation are detailed four case studies which highlight the need for vigilance and caution.

1.  Case 1: False Positive cfDNA                                 2. Case 2: False Negative cfDNA

              CFTS Risk: Tri 21 = 1/69366                                             CFTS Risk: Tri 21 = 1/5

              cfDNA = Tri 13 (High Risk)                                                cfDNA = Low risk

               Invasive Testing: 46XX                                                Invasive Testing: 47XX + 21

3.  Case 3: Fetal Development                                      4. Case 4: False Negative cfDNA

               CFTS Risk: Tri 21 = 1 / 28                                                CFTS Risk: Tri 21 = 14170

               cfDNA = Low risk                                                             cfDNA = Low risk

                   Invasive: 46XX                                                                Invasive: 69XXX

        Diagnosis: Skeletal dysplasia + FGR

The above 4 cases highlight the nature of screening, ie., identifying an at risk population requiring definitive investigation. The above cases also demonstrate that to maximise screening efficacy, we need to incorporate complementary screening modalities. Hence, early pregnancy screening programs should include feto-placental biochemistry, extracellular DNA and ultrasonography.