Prenatal screening tests offered by several major esoteric laboratories may be prompting some women to terminate their pregnancies based on incomplete information, according to an article published earlier this week by the New England Center for Investigative Reporting. The article focused on several esoteric labs that offer prenatal screening assays, including the MaterniT21 blood test offered by California-based Sequenom, Natera’s Panorama assay, Illumina’s verifi, and Ariosa’s Harmony assay. Such tests can screen for relatively rare genetic abnormalities such as Edwards syndrome, which is associated with significant birth defects. The labs market the tests as a much safer and less invasive alternative to amniocentesis-based tests. However, as the article noted, there is a significant difference in the accuracy of screening assays such as the MaterniT21 that can indicate elevated risks of giving birth to an abnormal child and tests that can accurately diagnose whether a fetus has such a condition. For example, an Edwards syndrome screening may be accurate only 64 percent of the time, and other tests less than 85 percent of the time, according to a survey recently published by Quest Diagnostics. The New England Center article claimed some labs may be overselling their tests while not properly educating […]
Prenatal screening tests offered by several major esoteric laboratories may be prompting some women to terminate their pregnancies based on incomplete information, according to an article published earlier this week by the New England Center for Investigative Reporting.
The article focused on several esoteric labs that offer prenatal screening assays, including the MaterniT21 blood test offered by California-based Sequenom, Natera’s Panorama assay, Illumina’s verifi, and Ariosa’s Harmony assay. Such tests can screen for relatively rare genetic abnormalities such as Edwards syndrome, which is associated with significant birth defects. The labs market the tests as a much safer and less invasive alternative to amniocentesis-based tests.
However, as the article noted, there is a significant difference in the accuracy of screening assays such as the MaterniT21 that can indicate elevated risks of giving birth to an abnormal child and tests that can accurately diagnose whether a fetus has such a condition. For example, an Edwards syndrome screening may be accurate only 64 percent of the time, and other tests less than 85 percent of the time, according to a survey recently published by Quest Diagnostics.
The New England Center article claimed some labs may be overselling their tests while not properly educating patients on the potential for false positives—which rise when screening for particularly rare syndromes. As many as 800,000 screening tests have been conducted in the United States since 2011, and that many mothers are waiting later to have children means demand for such tests is on the rise.
As a result, more expectant mothers may be terminating pregnancies of healthy children. The New England Center cited at least three aborted pregnancies reported by Stanford University as the result of high-risk screening results in which the fetus was perfectly normal. It also cited cases of mothers who received negative results on screening tests who wound up giving birth to children with serious health issues.
The article also cited research commissioned by Natera that 22 mothers out of 356 who received an initially positive screening result terminated their pregnancies without conducting further testing. Natera’s assay successfully predicts a genetic abnormality 84 percent of the time.
Takeaway: Esoteric labs offering prenatal testing may be overselling their assays and increasing the risk of the termination of healthy fetuses.
