NIPT Extended

Caused by an extra chromosome on the 21st chromosome pair. It is the most common genetic cause of intellectual disability and can also cause medical difficulties. People with Down’s syndrome may have some degree of intellectual disability. Some children with Down’s syndrome have congenital heart defects or problems with other organs that may require surgery or medical treatment. Some have other medical conditions such as hearing or vision impairment and, in later life, dementia.

This is caused by an extra chromosome 18 in some or all of the body’s cells. Most children with Edward’s syndrome have several serious defects in the brain, heart and other organs. Poor growth during pregnancy is common and many pregnancies end in miscarriage or stillbirth. Of the children born alive, most die before the age of one. Children who survive have severe intellectual disabilities and growth and development difficulties.

In most cases, this is caused by the presence of an extra chromosome 13 in some or all of the body’s cells. Most children with trisomy 13 have severe intellectual disability, several severe birth defects, abnormalities in the brain and other organs. Many pregnancies end in miscarriage or stillbirth. Of the babies who are born alive, most die before the age of one month.

Means that one of the female sex chromosomes is partially or completely missing. It is the most common sex chromosome abnormality in women, affecting only girls, and 1 in 2,000 baby girls are born with Turner syndrome. It can cause a range of medical and developmental problems, including short height, failure of the ovaries to develop, hearing loss and heart defects.

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra X chromosome. Affects about 1 in 500-800 males/boys born, making it one of the most common chromosomal abnormalities. Klinefelter’s syndrome is often not diagnosed until adulthood and in the majority of cases remains undiagnosed. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

Is a genetic condition that occurs when a girl is born with an extra, third, X chromosome and it affects about 1 in 1,000 females. Some girls and women with triple X syndrome may experience only mild symptoms or none at all. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities. Being taller than average height is the most typical physical feature. Early motor development is slightly delayed in girls born with the syndrome, they have intelligence in the normal range, but possibly slightly lower when compared with siblings.

Is a genetic condition that results when a boy is born with an extra Y chromosome in most or all their cells and affects about 1 in 1000 males/boys born. Most of them do not receive a diagnosis. Boys with XYY syndrome may be taller than average height, may have delayed development of their social, language, and learning skills.