PROCESS OF GENETIC SCREENING
Genetic Screening • A genetic screening test is done to gather information about a person's genes and chromosomes. • It is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. • The genetic screening test is performed with a blood sample and is usually done between weeks 15 and 18 of the pregnancy .
Why Genetic Screening Tests • Genetic screening tests gives an estimate, the risk of having a baby with the following defects: • Down Syndrome • Trisomy 18 • Open Neural Tube Defect
Down Syndrome • Down syndrome is a genetic condition that results when there is an extra copy of a specific chromosome, chromosome 21. • It will affect the physical features, intellect, and overall development of an individual. • It causes mental retardation, certain facial features and sometimes heart defects.
Trisomy 18 • It’s also known as Edwards syndrome • It’s a form of down syndrome where they'll have 47 chromosomes in each cell instead of 46. • Only 50% of babies who are carried to term will be born alive.
Open Neural Tube Defect • These are birth defects of the brain, spine, or spinal cord of the foetus. • Common neural tube defects are spina bifida and anencephaly. • In the above cases, the foetal spinal column doesn't close completely and most of the brain and skull do not develop.
After Abnormal Screening • Positive in the abnormal testing does not fully mean that the baby is affected and further testing is always suggested to make a diagnosis. • If there is any variation in the abnormal screening tests, then a more detailed ultrasound examination may be performed. • It will look at the baby's brain and spinal cord, as well as other parts of the body. • This ultrasound can identify an open neural tube defect or other malformation associated with an genetic screening test.
Conclusion • Amniocentesis is performed if there is a risk for having a child with neural tube defects. • The ideal time for many tests is before you get pregnant and don't forget to get the counselling from a genetic counsellor. • For genetic screening test services : http://www.fml-dubai.com/genetic-screening/
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