FISH for Aneuploidy - 5 Markers Chr 13, 18, 21, X, Y (Prenatal)

FISH for Aneuploidy - 5 Markers Chr 13, 18, 21, X, Y (Prenatal)

FISH for Aneuploidy - 5 markers Chr 13, 18, 21, X, Y is an essential prenatal diagnostic test that examines the number of specific chromosomes in a fetus. This test is of immense value as it provides insight into chromosomal disorders that may affect the developing baby. FISH, or Fluorescence In Situ Hybridization, uses fluorescent probes that attach to the chromosomes in a sample. This enables the chromosomes to be visualized and counted under a microscope. Through this, the presence of an abnormal number of chromosomes, which can be indicative of certain genetic disorders, can be detected.

Specifically, this test evaluates chromosomes 13, 18, 21, X, and Y. Abnormalities in chromosome 13 can be associated with Patau syndrome, while abnormalities in chromosome 18 are associated with Edwards syndrome. Chromosome 21 is linked with Down syndrome. The X and Y chromosomes are crucial for determining the sex of the child, and anomalies in these chromosomes can lead to a range of sex-linked disorders such as Turner syndrome and Klinefelter syndrome.

  • Test NameFISH for Aneuploidy - 5 Markers Chr 13, 18, 21, X, Y (Prenatal)
  • Sample TypeAmniotic fluid or chorionic villus sample (CVS)
  • Preparations RequiredNo specific preparations are required for the test itself, but it is important to adhere to the doctor’s guidelines concerning the procedures for sample collection through amniocentesis or CVS.
  • Report Time5 days

What is the purpose of the FISH for Aneuploidy test with 5 markers?

This test is used to detect chromosomal abnormalities in the fetus by examining the number of chromosomes 13, 18, 21, X, and Y. It aids in early diagnosis of conditions like Down syndrome, Patau syndrome, Edwards syndrome, and sex-linked disorders.

How is this test performed?

The test requires a sample of amniotic fluid or chorionic villus, which is obtained through amniocentesis or CVS. Fluorescent probes are then used in the lab to bind to the chromosomes in the sample, making them visible under a microscope.

Home Sample Collection Process
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Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
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Frequently Asked Questions

This test is usually performed during the second trimester of pregnancy but can be done earlier through chorionic villus sampling.

An abnormal result may indicate an atypical number of chromosomes, which can be associated with chromosomal disorders such as Down syndrome, Patau syndrome, Edwards syndrome, or sex-linked disorders.

The test itself does not pose risks, but the procedures for obtaining the sample (amniocentesis or CVS) carry a slight risk of infection or miscarriage.

It is important to consult your doctor for a thorough understanding of the results. Discuss the available options and steps for managing the pregnancy.

While FISH is highly accurate, it is often used alongside other genetic tests for a comprehensive assessment.

No, lifestyle or medication does not affect the number of chromosomes in fetal cells.

Yes, genetic counseling is strongly advised to help understand the implications of the results and explore the available options.

Yes, by analyzing the X and Y chromosomes, the test can determine the sex of the baby.

No, this test is usually recommended for high-risk pregnancies where there is a higher chance of chromosomal abnormalities.

FISH is a diagnostic test, meaning it can provide definite information about the number of chromosomes, unlike screening tests which only indicate the likelihood of a chromosomal abnormality.

No, this test specifically targets chromosomes 13, 18, 21, X, and Y. It does not provide information on structural abnormalities or other chromosomes.

Yes, alternatives include karyotyping, microarray analysis, and non-invasive prenatal testing (NIPT).

FISH can only analyze specific chromosomes and does not detect other genetic disorders or structural abnormalities. Additionally, it requires invasive procedures for sample collection.

FISH for Aneuploidy with 5 markers Chr 13, 18, 21, X, Y is an invaluable tool for early detection of chromosomal abnormalities in the fetus. This information is critical in helping expecting parents and their medical team make informed decisions about the pregnancy and the care that may be needed. It is essential to discuss prenatal testing options with your doctor to ensure the best possible care for both the mother and the baby.

FISH for Aneuploidy - 5 markers Chr 13, 18, 21, X, Y (Prenatal)
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