Cell-free DNA screening has quickly become established in Australia as an accurate - albeit costly - prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers. This article aims to answer common clinical questions in this rapidly evolving field and complements the recently updated Royal Australian and New Zealand College of Obstetricians and Gynaecologists Statement on Prenatal Screening for Fetal Chromosome and Genetic Conditions.

Preeclampsia is a major cause of maternal and fetal morbidity and mortality. Early recognition of the disease may be challenging. Complications may precede the onset of clinical symptoms and medical intervention is often delayed. Moreover, in the absence of specific clinical signs, many patients will present symptoms mimicking the disease without ever being diagnosed with preeclampsia. This situation may, however, lead to medical interventions and cause unnecessary stress for the patient. For many years, research tried to evaluate the significance of serum biomarkers as early indicators of preeclampsia. Among many, the sFlt-1/PlGF ratio, given its performance, aroused the greatest interest. This article reviews current knowledge on the subject, focusing on a Swiss perspective.

Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and complexity of the heart structures, prenatal diagnosis is most often made in the second trimester of pregnancy. Early diagnosis however offers significant advantages regarding the timing of further investigations, prenatal counseling, and access to management options. In the last decade, advances in antenatal imaging have improved the detection of cardiac malformations with increasing emphasis on earlier pregnancy screening and diagnosis. We aim to summarize current “state of the art” imaging of the fetal heart in the first trimester.