Medically reviewed by Nicholas R. Metrus, MD Key Takeaways Mosaic Down syndrome has some cells with three copies of chromosome 21, and some with two instead of all three.Only about 1% to 2% of people ...

Emma McLean is a 6-year-old girl who loves Taylor Swift, reading books, playing the drums and hanging with her little sister. While Emma has Down syndrome — specifically a rare type called Mosaic Down ...

If you’re pregnant, your doctor might have mentioned an NT scan or first-trimester screening. An NT scan is a simple test that shows your baby’s risk for some genetic conditions. What Is an NT Scan ...

Fetal alcohol syndrome (FAS) and Down syndrome are both conditions that are present at birth. While they both affect facial appearance, development, and physical health, they have different causes.

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in ...