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Amniocentesis#biology
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Amniocentesis is an invasive prenatal test in which your doctor takes a sample of the amniotic fluid. The sample (less than an ounce) is removed through a fine needle inserted into the uterus through your abdomen, under ultrasound guidance. A lab tests the sample, checking your baby’s chromosomes. Those tests can include the karyotype test, the FISH test, and microarray analysis.
Why Is an Amniocentesis Performed?
A complete anatomical ultrasound will be done prior to amniocentesis. but amniocentesis is most commonly performed to look for certain types of birth defects, such as Down syndrome, a chromosomal abnormality.
Because amniocentesis presents a small risk for both the mother and their baby, the prenatal test is generally offered to women who have a significant risk for genetic diseases, including those who:
Have an abnormal ultrasound or abnormal lab screens
Have a family history of certain birth defects
Have previously had a child or pregnancy with a birth defect
Had an abnormal genetic test result in the current pregnancy
Amniocentesis does not detect all birth defects, but it can be used to detect the following conditions if the parents have a significant genetic risk:
Amniocentesis can detect certain neural tube defects (diseases where the brain and spinal column don't develop properly), such as spina bifida and anencephaly.
Because ultrasound is performed at the time of amniocentesis, it may detect birth defects that are not detected by amniocentesis (such as cleft palate, cleft lip, club foot, or heart defects). There are some birth defects, however, that will not be detected by either amniocentesis or ultrasound.