Sikiöseulonnassa

Sikiöseulonnassa, known in English as fetal screening or prenatal screening, refers to a range of medical tests performed during pregnancy to assess the risk of a fetus having certain genetic or chromosomal abnormalities. These tests do not diagnose the condition but rather identify individuals with a higher probability, prompting further diagnostic testing if necessary.

Commonly screened conditions include Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Screening can also assess the risk for open neural tube defects such as spina bifida. The methods employed vary and can include maternal blood tests, ultrasound examinations, and sometimes a combination of both.

The timing of these screenings is crucial. First-trimester screening, typically performed between 11 and 14 weeks of gestation, often involves a blood test measuring specific pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (hCG), along with an ultrasound to measure nuchal translucency. Second-trimester screening, also known as the "quad screen," is a blood test usually done between 15 and 20 weeks, measuring four different hormone levels. Integrated or sequential screening combines results from both trimesters for a more accurate risk assessment.

The results of sikiöseulonnassa are presented as a risk assessment, not a definitive diagnosis. A "high-risk" result indicates an increased chance of the fetus having an abnormality, and further diagnostic procedures like chorionic villus sampling (CVS) or amniocentesis may be offered to provide a conclusive diagnosis. Conversely, a "low-risk" result suggests a very small chance of the abnormality being present. These screenings are voluntary, and expectant parents are encouraged to discuss the benefits, limitations, and implications of the tests with their healthcare provider.