Two Committees Recommend Cell-free Fetal DNA Testing for Patients at Risk of Aneuploidy

Sequenom Inc. (NASDAQ:SQNM) announced that two committees jointly recommended that cell-free fetal DNA testing be offered to patients who have an increased risk of aneuploidy. The news is of interest to Sequenom as it offers the MaterniT21 PLUS test, which is intended for pregnant women who have a high risk of fetal aneuploidy.

As quoted in the press release:

The ACOG Committee on Genetics and the SMFM Publications Committee now recommend that women at increased risk of aneuploidy be offered cell-free fetal DNA as an option that can be used as a primary screening test based on the following indications:

• Maternal age 35 years or older at delivery.
• Fetal sonographic findings indicating an increased risk of aneuploidy.
• History of a prior pregnancy with a trisomy.
• Positive test result for aneuploidy, including first trimester, sequential, or integrated screen, or a quadruple screen.
• Parental balanced robertsonian translocation with increased risk for fetal trisomy 13 or 21.

The Committee Opinion also recommended that “cell-free fetal DNA testing should not be offered to low-risk women or women with multiple gestations because it has not been sufficiently evaluated in these groups.” Further, the Committee Opinion stated that “pre-test counseling should be an informed patient choice after pre-test counseling and should not be part of routine prenatal laboratory assessment.  A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.”

Click here to read the full Sequenom Inc. (NASDAQ:SQNM) press release.