Karyotyping G Banding and FISH (Chr 13,18, 21, X and Y), Amniotic Fluid

This diagnostic test analyses the structure and number of chromosomes in amniotic fluid cells. It specifically measures the presence of abnormalities in chromosomes 13, 18, 21, X, and Y using cell culture and fluorescent in situ hybridization (FISH) techniques.

The Karyotyping G Banding and FISH (Chr 13,18, 21, X and Y), Amniotic Fluid test scans for abnormalities in specific chromosomes, and is commonly performed during pregnancy. These abnormalities can indicate genetic disorders such as Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome abnormalities. Hence, it is recommended to • Identify genetic disorders or abnormalities in the fetus. • Assess the risk of certain chromosomal conditions. • Determine the need for further diagnostic procedures or interventions. • Provide information for genetic counselling and family planning decisions.

Your doctor may recommend this test if • You have abnormal findings on an anomaly scan or other prenatal screening tests. • You are at increased risk for chromosomal abnormalities due to advanced maternal age or family history. • You have a previous child with a chromosomal abnormality. • There are indications of a known chromosomal disorder in either parent.

Abnormal results may suggest the presence of genetic disorders, such as Down syndrome or other chromosomal abnormalities. It is important to note that abnormal results do not definitively diagnose a specific condition. Further diagnostic tests and consultation with a genetic counsellor are necessary to confirm and understand the implications of the findings.

• After your doctor recommends the test, you will be scheduled for an amniocentesis, during which amniotic fluid is collected using a thin needle. • The collected fluid is then sent to the laboratory for analysis.

Before undergoing this test: • You will need to provide a detailed clinical history, including an anomaly scan report, to aid in the interpretation of results. • You must submit a duly signed consent form as per PCPNDT guidelines. • Your doctor may request that you temporarily discontinue certain medications that can interfere with test results. • It is essential to follow any additional instructions provided by your doctor regarding eating, drinking, and other activities before the procedure. Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Karyotyping G Banding and FISH (Chr 13,18, 21, X and Y), Amniotic Fluid test include: • Microarray Analysis: This test can identify smaller genetic changes that may not be detected by karyotyping alone. • Non-Invasive Prenatal Testing (NIPT): NIPT is a blood test that screens for common chromosomal abnormalities, such as Down syndrome, without invasive procedures. • Genetic Counselling: Genetic counselling provides individuals and families with information on genetic disorders, test results, and reproductive options.

Chromosomal Analysis of Amniotic Fluid, Prenatal Chromosomal Analysis

Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It leads to physical and intellectual developmental delays, characteristic facial features, and an increased risk of certain medical conditions.