Increased nuchal fold thickness is a feature of ?
## **Core Concept**
Increased nuchal fold thickness is a significant marker in fetal ultrasound assessments, often associated with aneuploidy and other fetal anomalies. The nuchal fold is the area at the back of the fetal neck, and its thickness can be measured during a pregnancy ultrasound. This measurement is crucial for assessing the risk of certain genetic conditions.
## **Why the Correct Answer is Right**
The correct answer, **Down syndrome (Trisomy 21)**, is associated with an increased nuchal fold thickness. This condition is a genetic disorder caused by the presence of an extra chromosome 21. One of the ultrasound markers for Down syndrome is an increased nuchal translucency or nuchal fold thickness. The increased thickness is thought to be related to altered lymphatic drainage or cardiac anomalies often seen in Down syndrome.
## **Why Each Wrong Option is Incorrect**
- **Option A:** While certain infections can cause fetal anomalies, they are not directly linked to increased nuchal fold thickness as a specific diagnostic marker.
- **Option B:** Edwards syndrome (Trisomy 18) is another chromosomal abnormality, but it is more commonly associated with growth restriction, clenched fists, and rocker-bottom feet rather than specifically with increased nuchal fold thickness.
- **Option C:** Patau syndrome (Trisomy 13) involves severe intellectual disability and physical abnormalities, but like Edwards syndrome, it is not specifically identified by increased nuchal fold thickness.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that an increased nuchal fold thickness warrants further investigation, including amniocentesis for genetic analysis, as it significantly increases the risk for Down syndrome and other aneuploidies. The American College of Obstetricians and Gynecologists (ACOG) and other professional organizations provide guidelines for the interpretation of nuchal fold thickness measurements.
## **Correct Answer:** D. Down syndrome.