Patient's question:
Trisomy 21 syndrome (Down syndrome) is 1/370, age + AFP is 1:880, open neural tube defect is negative, Trisomy 18 is 1/41600. Is it considered high risk? The doctor recommended an amniocentesis. Please ask if there is any risk if an amniocentesis is done at 21 weeks or 22 weeks? What week is the best? If my husband's several older brothers' children do not have it, does that mean we won't have it either? Does Down syndrome be inherited across generations? Trisomy 21 syndromeDoctor's answer:
Amniocentesis is mainly performed to collect some amniotic fluid for cell culture to check if the fetus has chromosomal abnormalities or developmental issues. This is usually done around the 20th week, between 18 and 23 weeks, as this is when there is more amniotic fluid, making the procedure easier and the cells easier to culture. It is more common in older or first-time pregnant women, who are more likely to have chromosomal mutations, or those who have previously been pregnant and given birth to a child with Down syndrome. Wishing you good health.