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Nuchal translucency is a specialized ultrasound measurement taken during the first trimester of pregnancy, typically between 11 and 14 weeks. It assesses the amount of fluid that is present at the back of the baby's neck. An increased measurement can indicate a higher risk of chromosomal abnormalities such as Down syndrome and also is associated with congenital cardiac defects.

This non-invasive screening tool provides useful information early in pregnancy, allowing for further diagnostic testing or more in-depth monitoring if needed. It specifically focuses on potential genetic issues that may affect the developing fetus, making it an essential part of prenatal care.

Amniocentesis, while also a diagnostic test for chromosomal abnormalities, is invasive and typically conducted later in pregnancy. Cord blood analysis is primarily used for conditions affecting blood-related issues rather than predicting genetic disorders. Genetic marker testing can identify specific disorders but does not provide the same early risk assessment for a broader range of abnormalities as nuchal translucency does.