Day 2 | Session 5 | Concurrent | Back to your roots: inherited disorders and obstetrics and gynaecology
Inherited disorders within the context of fertility
In this talk we will discuss genetic carrier screening, preimplantation genetic testing for single gene disorders, translocations and the controversial PGT-P, a tool to test for predicted traits or characteristics.
Are we now looking to deeply?
A person may have a XRAY for a possible broken rib, which is normal. An incidental lung nodule is found, the patient has a biopsy showing it is a 'benign nothing'. But has a complication from the biopsy, becomes bedridden and gets a PE.
Should the radiologist have commented on anything other than the rib? Are we doing something similar with genetic screening? Are we finding incidental things of minimal or limited significance.
Dr Simon McDowell
FRANZCOG CREI MBCHB MRMed PGDipOMG
Medical Director, Fertility Specialist and Laparoscopic Surgeon
Fertility Associates, Wellington
Simon's care focuses on preserving a woman’s fertility when gynaecological disorders such as endometriosis and fibroids are impacting. Patient communication is a strength of Simon’s, when fertility treatment can appear complex, he takes the time to ensure his patients understand what to expect, every step of the way. Simon has a special interest in the laparoscopic management of endometriosis, female infertility, heavy menstrual bleeding and pelvic pain.
Simon has trained extensively in New Zealand and Australia. He is duly subspecialized. He holds a Certificate in Reproductive Endocrinology & Infertility (CREI), the highest qualification for Fertility Specialists in Australia and New Zealand. He has also completed an AGES fellowship in advanced laparoscopic surgery, with a focus on surgical management of endometriosis and infertility.
Simon sees fertility patients at the Fertility Associates Wellington clinic and gynaecology patients at Wakefield Specialist centre. He also works at Wellington Public Hospital and is a Senior Lecturer at the University of Otago and is a member of the ECART committee. ECART is a ministerial committee that determines applications for assisted reproductive procedures.
Simon has 3 children. He plays field hockey, enjoys running and loves spending time with his family and friends on the Miramar peninsula.
Inherited disorders in Gynaecological Oncology: a New Zealand perspective
Inherited cancer predisposition syndromes are associated with an
increased risk of gynaecological malignancies. This presentation will focus on
Lynch syndrome, hereditary breast and ovarian cancer associated with BRCA1/2
pathogenic variants, and other clinically relevant genetic conditions.
Within
the New Zealand context, we will explore genetic risk assessment, tumour
testing, referral pathways, surveillance and risk-reducing strategies, while
highlighting equitable access to genetic services and the implications for
patients and their whānau.
Dr Silipa Naiqiso
Gynaecological Oncologist
Te Toka Tumai, Auckland
Dr Silipa Naiqiso is a Subspecialist Gynaecological Oncologist based at Te Toka Tumai (Auckland Hospital) in New Zealand.
Matters of the maternal heart: managing inherited cardiovascular pathologies in pregnancy
Inherited maternal cardiovascular disorders, including cardiomyopathies, long QT syndrome, and familial aortopathies, are high-risk obstetric conditions. The hemodynamic stress of pregnancy and the puerperium increases the risk of acute failure, arrhythmia, or aortic dissection. Safely navigating these complex maternal conditions demands proactive risk stratification and a tightly coordinated, multidisciplinary approach.
Dr Ruth Hughes
Obstetric Physician
Christchurch Women's Hospital
Dr Ruth Hughes is an Obstetric Physician at Christchurch Women’s Hospital and a Senior Clinical Lecturer at the University of Otago, Christchurch. A Fellow of the Royal Australasian College of Physicians, she completed an Obstetric Medicine Fellowship in Toronto.
Dr Hughes specialises in managing high-risk medical conditions in pregnancy and is passionate about optimising maternal safety and improving pregnancy outcomes by translating evidence-based research into clinical practice.
Her research contributed to the nationwide adoption of routine HbA1c booking screening for pre-existing hyperglycaemia. Recently, Dr Hughes collaborated to introduce angiogenic biomarker screening for placental insufficiency into routine practice in Canterbury.