Medical Society Approval for Non-Invasive Prenatal Testing

Prenatal testing based on fetal DNA floating in a mother’s bloodstream got a nod from a professional medical society this week, which could benefit companies selling the diagnostic tools.

The American College of Obstetricians and Gynecologists recommended that non-invasive tests for abnormal numbers of chromosomes, called aneuploidies, be part of prenatal testing for at-risk pregnancies, which includes cases where the mother is over 35 or has a history of aneuploidy problems.

The committee’s opinion is “a reflection of the pent up interest and demand that’s out there,” says Jonathan Sheena, chief technology officer of Natera, a prenatal DNA diagnostics company in San Carlos, California. Other methods for detecting chromosomal aneuploidies, such as chorionic villus sampling or amniocentesis, carry a risk of miscarriage.  “We are very encouraged that ACOG is recognizing the demand and the promise of non-invasive prenatal testing and how it is going to improve care for pregnant mothers,” says Sheena.

While DNA diagnostics and other genomic tools are expected to move into many areas of medicine in coming years, they seems to be making inroads into reproductive medicine particularly quickly.  Medical researchers can examine fetal DNA from just a sample of a pregnant woman’s blood (see “New Tests Could Divine a Baby’s Genome Before Birth”) and some groups are even looking to predict baby genomes based on parental DNA (see “Genetic Screening Can Uncover Risky Matches at the Sperm Bank”). Even sequencing-machine manufacturers are jumping in (see “DNA Sequencing Leader Buys into Prenatal Testing”).

Natera is developing a non-invasive prenatal test for detecting aneuploidies of five chromosomes. Most other tests look for aneuploidies of just three chromosomes, the most famous being an extra chromosome 21, which causes Down Syndrome. But Natera’s sequencing-based test also looks for abnormal amounts of the X and Y chromosomes and results presented at this months’ American society for Human Genetics conference suggest the company’s test is highly accurate and sensitive across all five chromosomes.

The ACOG’s decision could be good news for Natera and other firms in the non-invasive prenatal testing space. As reported by GenomeWeb:

“[T]he recommendation should carry weight with payors, many of which we believe are considering national coverage decisions that could be swayed by these types of society recommendations or opinions,” William Blair analyst Brian Weinstein wrote in a note this morning.