The new findings published in the Journal Science Translational Medicine suggest that pap smears could one day help doctors diagnose and treat babies with genetic diseases. The study also revealed that prenatal screening for genetic disorders could be carried out as early as five weeks into a pregnancy with a simple Pap smear.
Currently, methods for screening fetuses for genetic disorders are more invasive, and cannot be used until a woman is nine to 12 weeks pregnant, the researchers said. A pap smear involves scrapping a small sample of cells from a woman’s cervix.
Writing in their study, the researchers add that genetic disorders that are caused by a certain gene, such as the blood disorders thalassemia and sickle cell anemia, are not common, but still are a major health burden.
But being able to detect genetic disorders as early as possible is important because doctors can then begin treating some of these disorders a baby is finally delivered.
Congenital adrenal hyperplasia is an example of genetic disorder, which affects the functioning of adrenal glands and in some cases, might be life-threatening. But, the experts say that it could be treated while the fetus is still in the womb however, more research is needed to determine whether those treated in utero might have better outcomes than those who begin treatment after birth.
In the new study, the researchers tested the Pap smear method of prenatal testing in a group of 20 healthy women who were between five and 19 weeks pregnant. During the procedure, the researchers extracted cells from the placenta inside the mother’s reproductive tract. Placental cells contain DNA material from the fetus.
The researchers tested the cells and were able to identify and analyze detailed genomic profiles of the fetuses in the study. The study did not indicate whether any of the fetuses in the study turned out to have a genetic disorder.
The researchers did not report any adverse effects from the procedure.
One of the advantages of a Pap smear for prenatal testing is that it is less invasive than methods that are currently available, the researchers said.
Those other methods involve direct sampling of the placenta or of the fluid that surrounds a developing fetus and that contains fetal tissues, the researchers said. Some of these procedures come with a small risk of fetal loss.