In a move that’s been anticipated for years, a prenatal blood test to detect Down syndrome became available Monday in 20 major cities, the company behind the screening tool said.
The test, developed by California-based Sequenom, accurately identified Trisomy 21 — the most common form of Down syndrome — in 98.6 percent of cases, according to a study published Monday in the journal Genetics in Medicine. The research indicates that there is a false-positive rate of 0.2 percent.
Officials with Sequenom say the new blood test is intended for the estimated 750,000 pregnant women each year who are at high risk for having a baby with Down syndrome. The test can be performed as early as 10 weeks into a pregnancy.
The ability to detect Down syndrome in the womb by analyzing the mother’s blood is considered a breakthrough. Previously available testing methods such as amniocentesis are far more invasive and present a risk of miscarriage.
However, the availability of a noninvasive test has also been met with concern by many of those affected by Down syndrome. They are worried that easier screening could lead to fewer children with the chromosomal disorder and ultimately prompt reduced supports and services for the population.
Nonetheless, advocates at the National Down Syndrome Society were careful not to criticize the development Monday.
“Our concern at NDSS is always for accurate information, from any test, for the pregnant woman and her family,” the organization said in a statement to Disability Scoop.
In anticipation of prenatal blood tests, Down syndrome advocates have worked for some time to promote awareness of what life is like with the developmental disability.
A series of surveys released last month found that the overwhelming majority of people with Down syndrome are happy with their lives. Moreover, family members said that having a person with the disability around gave them a more positive outlook.