Pregnant pause: Big shift in advice for GPs to give mums-to-be

Cell-free DNA screening is now an acceptable first-line test

GPs are being urged to offer infor­mation on carrier screening for common genetic conditions to all women planning pregnancy, as part of a revamp of guidance by the college of obstetricians.

genetic screening

The advice is among new recommendations on chromosomal and genetic testing from the college, which also affirms that cell-free DNA (cfDNA) screening is an acceptable first-line test instead of combined first trimester screening.

Even women with a low probability of common monogenic conditions should be offered information on carrier screening when