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Trisomy 21, also known as Down syndrome, is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is one of the most common chromosomal abnormalities, affecting approximately 1 in 700 live births. Prenatal screening plays a crucial role in early detection, and increased nuchal translucency (NT) is one of the key ultrasound markers associated with Down syndrome.
Nuchal translucency refers to the fluid-filled space at the back of a fetus’s neck, which can be measured via ultrasound between 11 and 14 weeks of gestation. An increased NT measurement is often associated with chromosomal abnormalities, congenital heart defects, and genetic syndromes, including Trisomy 21.

Alongside increased NT, other ultrasound findings that may suggest Trisomy 21 include:
If NT is increased, further diagnostic tests are recommended:

An increased NT measurement is a significant marker for Trisomy 21, but it is not definitive on its own. Combining NT screening with biochemical tests and confirmatory genetic testing provides a comprehensive approach to prenatal diagnosis. Early detection allows for informed decision-making and specialized medical support for affected families.
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