What is the significance of high hCG levels?

High levels of human chorionic gonadotropin (hCG) are most notably associated with trisomy 21 (Down syndrome). In pregnancy, hCG is produced by the placenta shortly after implantation, and its levels can provide important insights into fetal health and development.

In the context of screening for fetal anomalies, elevated hCG levels can be a marker for an increased risk of Down syndrome. This condition is characterized by the presence of an extra copy of chromosome 21, leading to the distinct phenotypic and developmental features associated with it. Therefore, when hCG levels are abnormally high, it raises the suspicion for trisomy 21, prompting further diagnostic testing such as non-invasive prenatal testing (NIPT) or amniocentesis.

While high hCG can also be present in normal pregnancies and certain maternal health conditions, its role as an indicator for trisomy 21 is specifically significant in the context of genetic counseling and prenatal screening. This awareness is crucial for healthcare providers in evaluating and managing pregnancies.