Study: Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening
The results of this study, conducted by scientists at the Murdoch Children’s Research Institute and the University of Melbourne, are now published.
You can see details here:
- Study results: Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics and download a full pdf version.
- It Could Be You. Be Tested – Genetic Clinics Australia
The study concluded that “evidence to inform guidelines that population FXS carrier screening can be implemented with minimal psychosocial harms following appropriate information and prescreening genetic counseling”.
Fragile X Alliance Inc. president, and medical director of Genetic Clinics Australia, Dr Jonathan Cohen, a co-author of the study, is quoted in an ABC article “Fragile X: Experts say all women should be offered screening for genetic condition”
He said that doing the test before a woman was pregnant gave them options.
“They can still go down that path if they wish — they can get pregnant, get tested and terminate, or not terminate, … Or they can go through IVF PGD — which is pre-implantation genetic diagnosis … That’s when an embryo is made, the embryo gets tested and only the unaffected embryo is implanted.”