Down syndrome is a genetic disorder that causes intellectual and physical developmental delays. It occurs due to an extra copy—full or partial—of chromosome 21. The condition known as Down syndrome is named for John Langdon Down, a British doctor who was the first to describe the syndrome in 1866. Down syndrome is the most common genetic disorder in America; it occurs in approximately one out of every 691 babies. While scientists are uncertain why Down syndrome occurs, research has shown that a woman’s likelihood of giving birth to a child with Down syndrome increases with her age. Approximately 1% of all cases of Down syndrome are hereditary. There is no evidence indicating that environmental factors or parental activities prior to or during pregnancy contribute to the likelihood of Down syndrome.
There are two types of prenatal testing available to determine whether a baby has Down syndrome before it is born. Screening tests, which are less invasive and carry a slight risk of a false-positive diagnosis, determine the likelihood that a child has Down Syndrome; diagnostic tests, which are more invasive and carry a slight risk of miscarriage, provide a nearly 100% accurate diagnosis. In the event that Down syndrome is not diagnosed prior to birth, it is usually diagnosed at birth due to physical symptoms and confirmed by a chromosomal analysis of the child’s blood sample.
Physical characteristics of Down syndrome vary, but tend to include stunted growth, upward-slanted eyes, flattened facial profile, unusually small chin size, a protruding tongue, poor muscle tone, a large gap between the first and second toe. The neurological effects of Down syndrome also vary, but generally include mild to moderate intellectual disability with decreased speech skills and delayed fine motor skills. Individuals with Down syndrome present an increased incidence of congenital heart disease, thyroid disorders, gastrointestinal disorders, low fertility rates, and impaired vision and hearing.
For decades, parents have been able to pursue Medical malpractice/ Medical negligence litigation for "wrongful birth." Such claims help provide parents with resources that can allow them to provide better care for children born with Down syndrome, care which, without such aid is exorbitantly expensive.