Genetic testing is a medical procedure that is done in a pregnant woman to find out if there is any chance of genetic defect in the fetus. In some countries genetic testing is absolutely mandatory during pregnancy. Genetic testing allows the parents to know if their baby is affected with Downs Syndrome or any other genetic disorder. However, these tests are not available in some countries.
What tests are included in Genetic Testing: There are 3 main tests included in Genetic testing. The triple test is a simple blood test and no invasive procedure is involved in genetic testing that can harm the fetus. Three proteins are tested in the pregnant mother for genetic testing of the fetus. These 3 proteins include UE3, AFP and HCG. The mother’s ethnicity and age is also taken into consideration when the test is performed.
When to conduct genetic testing: For best results, genetic testing is ideal between 15th week to 17th week of pregnancy.
Disorders screened in genetic testing: Genetic testing is a screening process that can identify the chances of a pregnant woman having baby with genetic deformities. The genetic testing can also determine the chances of twin babies. Genetic diseases like Downs Syndrome, neural tube defects (Spina Bifida), Trisomy 18 and ventral wall defects can be detected through this testing.
Accuracy of genetic testing: Accuracy for Down Syndrome is 89-90% in a pregnant woman above the age of 36 years. The test has an accuracy of 60-70% for a pregnant mother with an age below 36 years. Genetic testing is accurate up to 85% for neural tube defects and 75% accuracy is measured for ventral wall defect.
CVS: This is another commonly performed genetic testing where sample cells are extracted out from the membrane around the embryo. This is an invasive procedure and has a high risk of miscarriage. However, the test is highly accurate, as much as 99-100%. The test can effectively diagnose around 200 genetic disorders in fetus.
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Amniocentesis test: This is an invasive genetic testing which is usually recommended when an abnormal Triple test result is found. Amniocentesis test is also done if the parents opt to do a chromosomal analysis of the baby. Since a needle is inserted in the mother's uterus to take out the fluid there is high risk of damage to the fetus.
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