Reproductive Carrier Screening and Its Increasing Importance in Fertility Management

Abstract

Advances in genetics have had a huge impact on reproductive choices. Reproductive carrier screening has transitioned from testing for a small number of conditions, often ethnically specific, to pan ethnic large panels. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission), funded by the Medical Research Future Fund, studied the acceptability and feasibility of offering such a large panel to couples pre pregnancy or in the early stages of pregnancy. Screening of around 1300 genes was offered by healthcare professionals. Education and consent were largely through an online portal. Genomic testing was conducted on self-collected cheek swabs. The study demonstrated that such screening can be offered at scale and that people use the information to inform reproductive decisions. Another area where genetic advances has played a crucial role in obstetrics is the ability to undertake genomic sequencing to identify the cause for abnormal ultrasound findings. Whereas in the relatively recent past, the only test available to try to identify the cause of add normal ultrasound findings was a banded karyotype on CVS or amniocentesis, now a specific single gene diagnosis can be made in some instances to inform prognosis and better enable couples to make informed reproductive decisions.