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When both parents are known carriers of a genetic disorder.Having a previous child with certain birth defects.Having a previous child with a genetic or chromosomal abnormality.Other situations in which an amniocentesis may be performed due to increased risk include: When there is an abnormal finding on a prenatal screening test, the mother may be offered amniocentesis to help diagnose the cause. Prenatal screening generally involves ultrasound and/or blood tests that can detect signs of a potential problem with a baby’s health or development. However, It is most often performed based on the increased chance of a chromosomal abnormality either due to a mother’s age or an abnormal result from a prenatal screening test. It is recommended that amniocentesis be offered to all women interested in diagnostic testing, regardless of age or additional risk factors. When should I have an amniocentesis performed?ĭiagnostic amniocentesis is most frequently performed between the 15th and 18th week of pregnancy. While these are the most common tests performed after amniocentesis, other testing may be ordered to check for bacterial or viral infections or evaluate other aspects of an unborn baby’s health. When it is, it may be related to an open neural tube defect, such as spina bifida. It is not normally detected in amniotic fluid. AChE is an enzyme that is produced within the fetal spinal cord and brain. In many cases, amniocentesis also involves measuring alpha fetoprotein (AFP) and acetylcholinesterase (AChE) levels in the amniotic fluid.ĪFP is a protein that is normally made by the fetus, but abnormal levels can be related to certain birth defects. These prenatal genetic studies are the most common reason why amniocentesis is performed. Different kinds of laboratory analyses may be performed depending on the specific purpose of the test.Īmniocentesis can be used to detect whether a fetus has chromosomal changes associated with conditions such as Down Syndrome. What does the test measure?Īn amniocentesis test analyzes a small sample of amniotic fluid. In this case, fluid is not removed for testing, and the technical name for this version of the procedure is amnioreduction. The second function of amniocentesis is to remove excess amniotic fluid as a therapeutic procedure. Fetal infection with a virus or bacteria.Genetic disorders such as cystic fibrosis.Chromosomal abnormalities such as Down Syndrome.Possible birth defects involving the brain or spinal cord.There are two main uses of amniocentesis: diagnostic testing of fetal health and removing excess amniotic fluid.ĭiagnosis is a way of detecting if a fetus has certain types of developmental abnormalities or health problems.