Recent marker for Downs syndrome is
## **Core Concept**
The question pertains to the prenatal screening and diagnosis of Down syndrome, a genetic disorder caused by an extra copy of chromosome 21. Recent markers and tests have been developed to improve the accuracy of Down syndrome detection during pregnancy.
## **Why the Correct Answer is Right**
The correct answer, **cell-free DNA (cfDNA) screening**, is considered a recent and advanced marker for Down syndrome. This screening test analyzes the DNA present in the maternal bloodstream, which includes small fragments of DNA from the placenta and, in some cases, from the fetus. This test can detect the presence of extra chromosomal material from chromosome 21 with high sensitivity and specificity, making it a powerful tool for screening.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is blank and does not provide any information.
- **Option B:** This option is also blank and does not provide any relevant information.
- **Option C:** Similarly, this option does not contain any information.
- **Option D:** This option is blank as well.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that **cell-free DNA screening** is a non-invasive test that can be performed as early as 10 weeks of gestation. It has a high sensitivity and specificity for detecting Down syndrome, making it a preferred initial screening test for many pregnant individuals. However, it's essential to note that a positive result from cfDNA screening requires confirmation through more invasive diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS).
## **Correct Answer: B. cell-free DNA.**