Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment.

INTRODUCTION: Endometriosis is a common gynaecological disease associated with pelvic pain and subfertility. There are no non-invasive diagnostic tests, medical management requires suppression of oestrogens and surgical removal is associated with risk. Endometriosis is a complex genetic disease with variants in at least 27 genetic regions associated with susceptibility. Previous research has implicated a variety of biological mechanisms in multiple cell types. Endometrial and endometriotic epithelial cells acquire somatic mutations at frequency higher than expected in normal tissue. Stromal cells have altered adhesive capacity and immune cells show altered cytotoxicity. Understanding the functional consequences of these genetic variants on each cell type requires the collection of patient symptoms, clinical and genetic data and disease-relevant tissue in an integrated program. METHODS AND ANALYSIS: The aims of this study are to collect tissue associated with endometriosis, chart the genetic architecture related to endometriosis in this tissue, isolate and propagate patient-specific cellular models, understand the functional consequence of these genetic variants and how they interact with environmental factors in pathogenesis and treatment response.We will collect patient information from online questionnaires prior to surgery and at 6 and 12 months postsurgery. Treating physicians will document detailed surgical data. During surgery, we will collect blood, peritoneal fluid, endometrium and endometriotic tissue. Tissue will be used to isolate and propagate in vitro models of individual cells. Genome wide genotyping and gene expression data will be generated. Somatic mutations will be identified via whole genome sequencing. ETHICS AND DISSEMINATION: The study has been approved and will be monitored by the Metro North Human Research Ethics committee (HREC) and research activities at the University of Queensland (UQ) will be overseen by the UQ HREC with annual reports submitted. Research results will be published in peer-reviewed journals and presented at conferences were appropriate. This study involves human participants and was approved by RBWH Human Research Ethics Committee; HREC/2019/QRBW/56763.The University of Queensland; 2017002744. Participants gave informed consent to participate in the study before taking part.

Late termination of pregnancy at a major Queensland tertiary hospital, 2010-2020.

OBJECTIVE: To review rates of and indications for late pregnancy feticide at a major Queensland tertiary perinatal centre over the past decade. DESIGN: Retrospective cohort study. SETTING, PARTICIPANTS: The Centre for Advanced Prenatal Care at the Royal Brisbane and Women's Hospital, a tertiary perinatal centre; feticides of singleton pregnancies of at least 22 weeks' gestation, 1 January 2010 - 31 December 2020. MAIN OUTCOME MEASURES: Indications for feticide; median gestational age at feticide; referral source; time between referral, maternal-fetal medicine review, and feticide. RESULTS: During 2010-2020, 305 feticides were undertaken at 22 weeks' gestation or later. The annual number of feticides increased from 20 in 2010 to 54 in 2020. The median gestational age at feticide was consistent across the decade (24+6 weeks; range, 17+0 to 37+1 weeks). The most frequent fetal indications for feticide were neurological abnormalities (110 of 305, 36%), aneuploidy or genetic syndromes (67, 22%), and cardiac malformations (59, 19%). Most women were seen for review within seven days of referral for feticide (154 of 197 for whom this information was available, 78%; median, five days; range, 0-34 days), and 136 of 197 feticides (69%) were undertaken within seven days of the initial maternal-fetal medicine review. CONCLUSIONS: Most late pregnancy feticides were performed because of fetal indications, primarily structural malformations or genetic abnormalities. Despite advances in prenatal imaging and diagnosis, late termination of pregnancy remains a necessary option in some pregnancies with maternal or fetal indications, and equitable access to late termination of pregnancy services is a vital component of reproductive health care.