Most common trisomies
Down Syndrome (Trisomy 21) - 99% test accuracy
Down syndrome is a genetic disorder caused by an extra full or partial cell division of a human's chromosome 21, resulting in intellectual disability, delayed development, a unique body and face, and abnormalities in various body systems. Down syndrome varies in severity among individuals.
Edward Syndrome (Trisomy 18) - 97.4%
Edward Syndrome is a genetic disorder caused by an extra full or partial cell division of a human's chromosome 18 that begins to affect babies when they’re in the womb, and continues to impact their health throughout their life. It’s a rare but serious condition that can cause varied birth defects.
Patau Syndrome (Trisomy 13) - 87.5%
Patau Syndrome is a genetic disorder caused by an extra full or partial cell division of a human's chromosome 13. It is associated with severe intellectual disability and physical abnormalities in many parts of the body most often life threatening.
Rare trisomies
Mosaic Trisomy 8 and 9
A mosaic condition is where an extra copy of chromosome 8, or 9, is present in some cells while other cells remain normal. They can lead to a range of developmental issues and organs defect. Mosaic 9 is typically nonviable.
Trisomy 16
Trisomy 16 is most often detected in miscarriages and rarely results in a live birth.
Sex chromosome abnormalities
Turner Syndrome (XO)
Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Triple X Syndrome (XXX)
Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes. Many girls and women with triple X syndrome don't experience symptoms or have only mild symptoms. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities. Seizures and kidney problems occur in a small number of girls and women with triple X syndrome.
Klinefelter syndrome (XXY)
Klinefelter syndrome is a common condition that results when a person assigned male at birth has an extra copy of the X sex chromosome instead of the typical XY. This syndrome may affect testicular growth which can lead to making less of the hormone testosterone. The syndrome also may cause smaller muscle mass, less body and facial hair, and extra breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same symptoms.
Jacobs syndrome (XYY)
Jacobs syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Additional symptoms may include learning disabilities and behavioural problems such as impulsivity.