Hypoplastic Nasal Bone
Hypoplastic nasal bone refers to the underdevelopment or reduced size of the fetal nasal bone, most commonly identified during prenatal ultrasound examinations in the first or second trimester. It is considered a significant soft marker for chromosomal abnormalities, particularly Down syndrome (Trisomy 21), and may also be associated with other aneuploidies such as Trisomy 18 and Trisomy 13. While the presence of a hypoplastic nasal bone increases genetic risk, it can also be observed in normal fetuses, with prevalence varying by ethnicity. Therefore, its clinical significance is best interpreted alongside maternal age, biochemical screening, and advanced diagnostic tests such as NIPT, chorionic villus sampling (CVS), or amniocentesis.
Hypoplastic nasal bone, prenatal ultrasound marker, fetal nasal bone, Down syndrome marker, Trisomy 21, aneuploidy screening, prenatal diagnosis, fetal anomalies, genetic screening
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