Medical Device Daily

Lenetix (Mineola, New York) has developed a non-invasive test for Down syndrome and other chromosomal abnormalities that would provide women with a more accurate assessment of their developing fetuses without the invasive amniocentesis evaluations.

The company has launched a screening study intended to include up to 800 women in an effort to prove that the test would offer fewer false positives and reduce the number of unnecessary invasive tests as well as fetal losses that can result.

"We're focusing on all chromosomal abnormalities at Lenetix, but the most common form of retardation is Down and it's the reason amniocentesis began to be offered and why serum markers were developed as a way of letting women know their pregnancy is at risk," CEO Leonard Kellner told Medical Device Daily.

Amniocentesis is typically performed at 15 to 20 weeks of pregnancy. A thin needle is guided into the uterus to extract a sample of amniotic fluid.

Chromosomes from the fluid are then studied for potential defects.

The American College of Obstetricians and Gynecologists (Washington) reports that there is a slight chance - less than 1% - of miscarriage from the procedure.

Down syndrome is a set of mental and physical symptoms resulting from an extra copy of Chromosome 21. Mental retardation symptoms can range from mild to severe. The National Institutes of Health notes that a woman's chance of having a baby with Down syndrome increases as she ages, from one in 1,250 for a woman who gets pregnant at age 25, to about one in 100 for a woman who gets pregnant at age 40.

The value of the Lenetix test is that it can be performed earlier, during the first trimester, and Kellner said it is more accurate than current screening and diagnostics available to women.

Lenetix has launched an Institutional Review Board-approved screening study of the Lenetix PloidYX maternal blood test which makes use of methylation differences between the fetal and maternal DNA found in maternal blood in order to achieve selective amplification of the fetal component. Following amplification, a microarray analysis makes it possible to determine the relative copy number of all the chromosomes. An increase/decrease in the relative copy number of chromosomes is indicative of trisomy or monosomy respectively.

"Our approach is inexpensive and it's basically ready now," Kellner said. "It just has to be scaled up. We can now move forward with our clinical trial."

Assuming study results are positive, Kellner anticipates commercial launch in 2010.

Currently, risk assessment for Down syndrome is evaluated with ultrasound and biochemical exams. If a woman is considered to be at risk, she is then referred to genetic counseling and for amniocentesis or chorionic villus sampling.

Lenetix PloidYX would be sold at $700 to $800 and, initially, would be evaluated at the Lenetix lab. But Kellner said that evaluation could later be performed at reference labs.

The current study will include higher-risk women with an ultrasound finding suggestive of a pregnancy at risk for chromosomal abnormalities.

Lenetix is solely owned by Kellner, who said funding through to commercialization is not an issue for the company.

"We happen to be quite blessed," he said. "I've funded this operation and we've had a core business that sustains our day-to-day operation. We wouldn't turn down funding, but right now we're in pretty good shape."

"Pregnant women and their physicians are clamoring for an improved, non-invasive prenatal test for Down syndrome because they fear the risks of amniocentesis," said Steve Brown, MD, Lenetix medical director. "Our test offers the promise of a comprehensive assessment of fetal aneuploidy in the first trimester using a maternal blood sample. It's a higher-quality test that will protect the mother and fetus."