In 2020 a resurgence of congenital syphilis occurred in Western Australia (WA).  Previous to this, syphilis control programmes in WA focused on remote regional areas of Western Australia due to a long- standing syphilis outbreak among Aboriginal communities. The resurgence of congenital syphilis however occurred in metropolitan areas. The change in epidemiology exposed issues with lack of case ascertainment in pregnancy due to the limitations of risk- based screening and lack of optimal antenatal care. Microbiology services have been an essential component of the multidisciplinary response. This presentation will canvass an overview of the WA congenital syphilis outbreak and the outbreak response from the perspective of the microbiology service of the state reference laboratory. Epidemiology, clinical features, changes in screening recommendations and other public health interventions will be discussed. 

  

MacKenzie H, McEvoy S, Porter, M. Congenital syphilis on the rise: the importance of testing and recognition. Med J Aust. 2022 Jul 4;217(1):58.  doi: 10.5694/mja2.51602. Epub 2022 Jun 7.

Amber Burgess¹, Ellen Casey¹, Lorna Williams¹, David Francis¹, Vida Petrovic¹, Nicola Flowers¹, Mark Pertile^1,2, Sebastian Lunke¹ and Meg Wall¹

¹Victorian Clinical Genetics Services, Murdoch Children’s research Institute, Royal Children’s Hospital, Melbourne Victoria; ²Department of Paediatrics, Melbourne University, Melbourne, Victoria

Our understanding of constitutional chromosomal mosaicism continues to evolve as new sampling techniques and methods for testing are developed. Chromosomal testing of amniotic fluid and chorionic villus samples (CVS) has been the mainstay of prenatal diagnosis for decades (1970’s and 80’s respectively). The introduction of chromosomal microarray analysis (CMA), which is usually performed on uncultured cells, has been a game changer for testing of products of conception (POC) samples but has made the interpretation of results from uncultured amniotic fluid samples sometimes difficult. Genome-wide prenatal cell free DNA screening, along with direct DNA testing of POCs has further developed our understanding of early embryonic mosaicism. In the newborn period, testing of placental tissues from the pregnancy or blood or saliva from the baby are options for the investigation of confined placental and tissue limited constitutional mosaicism. In our laboratory we have performed extensive testing in pregnancies where there has been tissue limited mosaicism. The presentation will focus on when and where chromosomal mosaicism is detected to inform which tissue to test depending on the clinical indication.

The aim of the presentation is to consider the haematologist's role in the diagnosis and investigation of perinatal mortality. This presentation will focus on both common and rare haematological conditions using case examples to highlight areas of pathology/clinical interest.