Description
Why It’s Done
This test is done for rapid detection of common chromosomal abnormalities when:
• There is an increased risk of genetic disorders based on screening tests or family history.
• A quick diagnosis is needed due to abnormal ultrasound findings.
• The patient desires early information while awaiting full karyotyping results (which take longer).
• Confirming suspected trisomies like Down syndrome, Edwards syndrome, or Patau syndrome.
• Determining fetal sex for sex-linked genetic disorders.
Preparation for the Test
• The test requires amniocentesis to collect amniotic fluid.
• No fasting is typically required.
• A detailed ultrasound is performed before the procedure to guide safe fluid collection.
• Informed consent is necessary due to the invasive nature and associated risks.
• Inform your healthcare provider about:
o Current medications
o Allergies
o Any health conditions
• Follow your healthcare provider’s instructions regarding activity restrictions before and after the procedure.
