Trisomy

This study looked at 141 men with Klinefelter syndrome (47,XXY) to see if younger men (ages 15–22) have a better chance of finding sperm through testicular biopsy compared to older men (ages 23–55). Participants provided two semen samples, and if no sperm were found, they underwe…

This study is testing whether a blood test can tell apart the DNA from a vanishing twin and the living twin in pregnancies where one twin stops developing. The goal is to improve non-invasive prenatal screening for chromosome conditions like trisomy 21, 18, and 13 in the survivin…

This study tested a new blood test to diagnose Down syndrome (trisomy 21) in pregnant women without the risks of invasive procedures like amniocentesis. Researchers collected blood samples from 150 pregnant women at high risk and analyzed fetal cells. The goal is to provide a saf…

This study tested a new blood test that looks at fetal DNA in the mother's blood to detect Down syndrome (trisomy 21) as early as the first trimester. Researchers enrolled 976 pregnant women at high risk and compared the blood test results to standard invasive methods. The goal w…

This completed study of over 7,000 pregnant women looked at whether the father's age influences the chance of Down syndrome (trisomy 21) in the baby. While it's well known that the mother's age matters, the father's role is less clear. Researchers used a blood test called the Opt…