Amniocentesis is a procedure that can be done during the second trimester of pregnancy (usually between 15 and 22 weeks). Amniocentesis involves getting some of the fluid from around the baby so that the lab can test for chromosome and genetic conditions.
Because amniocentesis is an invasive procedure, there is a risk of less than 1 in 200 (or 0.5%) for complications that can lead to a miscarriage. That also means that more than 99.5% of women who have an amniocentesis will not have a procedure-related miscarriage.
There are many different types of testing that can be done on amniocentesis samples, including traditional chromosome analysis (karyotype), FISH, chromosomal microarray, and familial mutation testing. All of this testing is considered to be diagnostic testing for chromosome and genetic conditions, meaning it can typically provide a ‘yes’ or ‘no’ answer, as opposed to screening tests which only tell you the chances or odds.
Amniocentesis can screen for many things, but cannot screen for all medical conditions or birth defects.
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