Last Updated 09 Jan 2023

The Amniocentesis and the Abnormalities for the Down Syndrome

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muscular dystrophy. As well as testing for any rare metabolic conditions, an amniocentesis can also be used as an accurate measure of fetal lung growth. The procedure is normally performed on women who are between fourteen and sixteen weeks pregnant. Amniocentesis was developed by Fritz Friedrich Fuchs and Polv Riis, and was first performed in 1956 as a way to determine the sex of a fetus. However, citing concerns over discrimination of the sex of a fetus and termination of an unwanted sex, some governments banned the procedure entirely. An amniocentesis is normally performed for any number of reasons, including an abnormal anatomical ultrasound finding, a family history of certain birth defects, or if the mother has previously given birth to a child with a genetic birth defect. Due to the risks of the procedure, the mother must elect to have it performed. Some of those risks include needle injury and a 0.6% chance of miscarriage, or one out of every fifteen hundred. The needle injuries have now since stopped with the advent of modern ultrasound equipment; however, due to the risk of miscarriage no matter how small, the decision to have an amniocentesis should not be taken lightly. In an effort to reduce the risks to both the mothers and the fetus, there are now a wide variety of non-invasive tests that can completely avoid the need to an amniocentesis. During pregnancy, a women may go through several tests that allow her to completely avoid an amniocentesis, such as a NT(Nuchal Test).

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In this procedure an ultrasound technician takes pictures to measure various points of the fetus and see the translucency of the nuchal fluid located at the back of the fetus's neck. By measuring this and various other points of the body such as the CRM (Cranial Ridge Measurement) and checking the heart to ensure that there is no tricuspid regurgitation, one can safely say that there is no reason to perform an amniocentesis. Another test that has been developed fairly recently is the “Harmony” test. This is a blood test that can be performed as early as nine weeks. In this test a small sample of the mother's blood is taken, cultured and studied, allowing the chromosomes to be studied in a relatively short period of time and with a high degree of accuracy. The detection rate for the test is touted at 100% detected, and only a .o6% instance of false positive finding. This is an attractive solution due to the rapid rate at which results can be received and the quick action that can be taken is desired. A termination of an affected fetus can only be performed before the twelfth week of pregnancy. Another added benefit of the Harmony test in particular is that it has the ability to detect fetal sex of a single pregnancy or twin pregnancy. It can also detect turner syndrome, which is a disorder that affects a female fetus where there is only one X chromosome present rather than two. The main benefits of these two tests is that there is no danger to either the mother or the fetus during either of these procedures. Another benefit is the detection ratios, as stated earlier the detection rate in the harmony test was 100% and a false positive finding in 1 out of every 1500 tests given. While there are not any actual guarantees, these tests completely put any potential parent at ease. They can help parents make well informed decisions when they are expecting a child.

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