The test will report on the presence of four rare aneuploidies involving an abnormal number of X or Y chromosomes, including female syndromes 45,X (Turner Syndrome) and 47,XXX (Triple X Syndrome), and male syndromes 47,XXY (Klinefelter Syndrome), and 47,XYY.  Results of the blinded clinical validation study set have been submitted for publication in a peer-reviewed journal.

"Sex chromosome abnormalities may be recognized at birth, as part of the spectrum of less severe chromosome abnormalities," says Allan Bombard, MD, Sequenom's chief medical officer. "They can also be found in adults, many being incidentally discovered in the course of evaluating patients for infertility or endocrine problems. Identifying these conditions through the MaterniT21 PLUS test will allow the health care provider and patient to discuss the medical issues associated with these conditions as well as to develop both short- and long-term care plans," 

The MaterniT21 PLUS test analyzes the relative amount of 21, 18, 13, as well as X and Y chromosomal material in cell-free DNA.  The test is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks' gestation.  Estimates suggest there are about 750,000 pregnancies at high risk for fetal aneuploidy each year in the United States.

[Source: Sequenom]