A new study published today (2nd November 2016) in the journal Science Transitional Medicine has found that genetic disorders can be detected as early as 5 weeks into pregnancy using a pap smear test. The pap smear test is normally used as a screening tool for detecting cervical cancer, however researchers the the Lenox Hill Hospital in New York discovered that when they tested cells from pap smears, they were able to identify genetic profiles of the fetus. These genetic profiles could be analysed for potential genetic disorders.
The pap smear test is much less invasive than traditional genetic screening tests which involve taking samples of the placenta, or extracting placental fluids, both of which carry a very small risk of causing miscarriage. Another benefit of using pap smears is that the tests can be performed much earlier. Current tests cannot be carried out until the woman is 9 to 12 week pregnant.
These findings could one day enable doctors to identify and treat babies with genetic diseases much more effectively.