• By Dana Sparks

Science Saturday: Three genetic tests to improve prenatal screening

September 16, 2017

a group of pregnant women in a birthing class
New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s blood stream. Another test for couples planning a family uses a single blood sample to assess whether future children might be at risk for developing a genetic disease.

“It’s an exciting time in perinatal testing,” explains Myra Wick, M.D., Ph.D. “DNA sequencing and molecular technology has improved and become more cost effective. These tests are important for family planning prior to pregnancy as well as planning for the care of a child who is found to have a genetic disorder during pregnancy. ”

Three state-of-the-art perinatal genetic tests are highlighted below. Researchers from the Center for Individualized Medicine have helped implement several of these tests, which use a personalized medicine approach in perinatal screening.

1. Cell free DNA testing

Mayo Medical Laboratories recently launched a blood test to screen for the most common chromosome disorders diagnosed in pregnancy, such as Down syndrome. It’s known as a cell-free DNA test. It screens the mother’s blood that contains DNA from the baby, looking for genetic disorders in the fetus. The new test generally has a higher detection rate and fewer false positives than traditional screening tests.

“Prior to this new test, mothers had the option of traditional first trimester screening, which is a blood test and ultrasound, or second trimester screening, which is a blood test. In general, the cell free DNA blood test can be used in place of the traditional first and second trimester screening,” explains Dr. Wick. It is important to remember that the cell free DNA testing is a screening test, and abnormal results should be followed up with additional testing. Read the rest of the article on Advancing the Science.

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