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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:

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.”