Karyotyping (Amniotic Fluid/CVS) with FISH - Single Probe - Price, Normal Range | Sprint Diagnostics Hyderabad
Patient Preparing : The pregnant person should follow the doctor's instructions regarding any dietary or activity restrictions before the procedure.
Karyotyping with FISH using Amniotic Fluid or Chorionic Villus Sampling (CVS) is a diagnostic procedure that involves analyzing the chromosomes in the cells obtained from the amniotic fluid or the placenta. The amniotic fluid is the liquid surrounding the fetus, while chorionic villi are small finger-like projections of the placenta. Chromosomes carry genetic information and normally, each person has 46 chromosomes. However, certain genetic conditions are associated with an abnormal number or structure of chromosomes.
The test combines traditional karyotyping with Fluorescence In Situ Hybridization (FISH), which employs fluorescent probes that bind to specific parts of the chromosome. This enables the detection of specific genetic abnormalities that may not be visible through conventional karyotyping.
This procedure is mainly performed during pregnancy to screen for genetic disorders in the fetus. It is often recommended in cases of family history of genetic disorders, advanced maternal age, or if other screening tests have indicated a possible risk for chromosomal abnormalities.
|Karyotyping (Amniotic Fluid/CVS) with FISH - Single Probe
|Amniotic fluid/Chorionic Villus Sample (CVS)
|The pregnant person should follow the doctor's instructions regarding any dietary or activity restrictions before the procedure.
|21 days for Karyotyping & FISH-5 days
What is the importance of getting Karyotyping with FISH done?
Karyotyping with FISH using Amniotic Fluid/CVS is essential for early detection of chromosomal abnormalities in the fetus. Early diagnosis allows for informed decisions regarding the pregnancy and preparations for the management of any identified genetic disorders.
Is fasting required for this test?
Fasting is not typically required, but it's important to follow the doctor's instructions regarding any dietary or activity restrictions before the procedure.
Home Sample Collection
Is there any specific preparation needed for the test?
There isn't any specific preparation, but itâ€™s crucial to follow any instructions given by the doctor. Pregnant individuals should ensure they are well-hydrated and have discussed any medications they are taking with the doctor.
When should I get this test?
This test is usually recommended during the first or second trimester of pregnancy if thereâ€™s a family history of genetic disorders, advanced maternal age, or if initial screening tests indicate a potential risk for chromosomal abnormalities.
What information does this test provide?
This test provides detailed information on the number and structure of chromosomes and allows for the detection of specific genetic abnormalities through the use of fluorescent probes. It is especially useful in identifying conditions like Down syndrome, Edwards syndrome, and Patau syndrome.
How often should this test be done?
This is a one-time test performed during pregnancy when there is a concern for chromosomal abnormalities in the fetus.
What are the normal values for this test?
Normal values would be 46 chromosomes with specific patterns. However, interpretation of results should be done by a doctor who specializes in genetics.
What precautions should be taken before and after the test?
Before the test, itâ€™s essential to follow the doctor's instructions regarding activity and diet. After the procedure, some rest and avoiding strenuous activity for a day or two is usually advised.
What factors affect the levels of chromosomes?
Chromosome abnormalities are typically due to genetic factors and canâ€™t be modified. However, the environment and maternal health can sometimes impact the pregnancy.
Which doctor should be consulted in case of abnormal value?
In case of abnormal results, it is advisable to consult a geneticist or a doctor specialized in genetics and genetic counseling.
How is the sample for the test collected?
For Amniotic Fluid, a needle is inserted through the abdomen into the uterus to collect fluid (amniocentesis). For CVS, a sample of tissue is taken from the placenta either through the cervix or the abdomen.
Is this test safe?
There are some risks associated with these procedures, such as infection, leakage of amniotic fluid, and miscarriage. The risks and benefits should be discussed thoroughly with the doctor.
Can this test detect all genetic disorders?
While this test can detect many chromosomal abnormalities, it cannot detect all genetic disorders. There are certain conditions and mutations that may require different testing methods.
What is the difference between using Amniotic Fluid and CVS for this test?
Amniotic fluid is usually collected later in pregnancy (15-20 weeks) while CVS is collected earlier (10-13 weeks). CVS might be chosen for earlier results, but the choice depends on various factors including medical history.
What happens if a chromosomal abnormality is detected?
If an abnormality is detected, genetic counseling will be provided to discuss the results, the implications for the child, and the options available.
Karyotyping with FISH using Amniotic Fluid or CVS is a powerful tool in prenatal diagnosis. It allows expectant parents and doctors to understand the genetic health of the developing fetus. It is crucial that those undergoing the procedure are fully informed of the risks and benefits. This test can be invaluable for the early detection and management of genetic disorders, and it is important to discuss the results with a doctor to understand the full implications and make informed decisions regarding the pregnancy and future healthcare needs.
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