Publication:

Acceptance of non-invasive prenatal testing by cell free foetal DNA for foetal aneuploidy in a developing country: experience at a tertiary care centre in India

Background Non-invasive prenatal testing is a new technique which is deepening its root all over the world. Its tremendous potential lies in its ability of using cell free fetal DNA from the plasma of pregnant women. However, to what extent the technology has reached to a common person is also to be given a thought. hence the study was planned to assess the acceptability of non-invasive prenatal testing in Indian settings, to study about the awareness and baseline knowledge about Down’s syndrome, to study the correlation between various indications of prenatal testing for aneuploidy and results of noninvasive prenatal testing.

Methods Noninvasive cell free fetal NA testing for aneuploidy was an informed patient choice after pre-test counseling. Patients with a positive test result were offered invasive prenatal diagnosis for confirmation of test results.

Results The diagnostic potential of cell free DNA for fetal aneuploidy matched equally with invasive tests avoiding slight but yet considerable risk of invasive tests. However, we found that, 90 % of patients in a tertiary centre hospital in India were not aware of trisomy 21 and various options available for prenatal screening for aneuploidy.

Conclusions Newer genomic technology involving cell free maternal DNA is a new storm in prenatal diagnosis. Its application in clinical practice is the need of the hour, however, the lack of awareness, high cost and unavailability of the test in the country appears to be a major limiting factor for its poor acceptability.