July 7, 2022

Single cell could yield foetal diagnosis

An Australian scientist working for a US pathology giant is developing single-cell fingerprinting in a new laboratory in Brisbane. The work of Associate Professor Jock Findlay gives a glimpse of the range of capabilities opening up for the IVF industry.

Professor Findlay’s team is developing clinical diagnostic techniques which can yield cheap and accurate results in a single day from a single cell. Foetal cells taken from a Pap smear will allow doctors to determine the sex of an unborn child and whether it has single-gene defects or Down syndrome or other major chromosomal abnormalities. This will enable all women to be tested — not just those at risk of bearing a child with a defective genotype. It will then be possible to eliminate even more of the defective children.

Another test will help to make pre-implantation diagnosis more efficient by testing the single cell extracted from the embryo. This will also “fingerprint” an embryo to match it to the patient. “There have been quite a few mistakes, where the wrong embryos have been put into the wrong mother,” explains Professor Findlay.