New DNA Test Developed to Identify 580 Fatal Childhood Diseases Before Conception

An ABC News article reports that a new DNA test has been created to test parents and identify if they are carriers of any of 580 of the most serious inherited childhood diseases. It may be shocking to some to learn that the average person carries at least two to three gene mutations that can cause various diseases in their children. When both parents have the same mutation, the chance that their child will be affected is one in four.

According to the article, The Beyond Batton Disease Foundation notes that “rare” diseases are responsible for 20 percent of all pediatric mortalities in the United States.

Though the new test does not address this disease, the genetic marker for Tay-Sachs disease can be detected through prenatal screening; and Tay-sachs screening has been available for decades. When an obstetrician fails to offer parents testing for Tay-Sachs, or, when laboratories make mistakes in interpreting or transmitting information relative to the test results, it may deny a couple their chance to learn if their child will suffer from this often fatal, neurological disease. Babies who are born with Tay-Sachs are missing an important enzyme, causing them to have developmental disorders and trouble swallowing. As a consequence, many children suffering from Tay-Sachs may have to use a feeding tube. Tay-Sachs is more prevalent in those of Eastern European descent, as well as French Canadians, Cajuns, and Irish Americans.

The article highlights many parents’ stories, one of which relates to a woman who received Tay-Sachs screening results which were inconclusive. Later, when she was almost six months pregnant, screening results came back positive and she terminated the pregnancy. In another story, a man lost his 3-year-old son to Tay-Sachs, stating that he did not even know that he and his spouse should get screened for the disease.

At Blume Forte, our New Jersey wrongful birth attorneys understand the many challenges parents of a child with Tay-Sachs or other genetically transferred disease face. If you feel you may not have received proper prenatal testing, call our firm for a no-cost evaluation of your potential claim. Our law firm has the experience to investigate and pursue potential medical negligence claims related to a wide range of birth injuries from genetic and metabolic causes. Contact us by calling 973-635-5400 for more information.

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