Amniochrome Test

The Amniochrome test measures subtle and cryptic microdeletion and duplication in a foetus suspected of genetic conditions for specific chromosomes (13, 18, 21, X, and Y).

• To detect genetic conditions in the foetus • To assess the risk of genetic abnormalities, • To provide information about possible treatment options • To enable informed decision-making for both parents and healthcare professionals

• The Amniochrome test is recommended when there are indications of potential genetic conditions in the foetus. • It is suitable for pregnant women who have abnormal ultrasound findings, a family history of genetic disorders, advanced maternal age, or positive screening tests for chromosomal abnormalities.

Abnormal results from the Amniochrome test might indicate the presence of genetic conditions or chromosomal abnormalities in the foetus.

During the test, a small amount of amniotic fluid is collected using a thin needle under ultrasound guidance. Maternal blood may also be collected to study maternal cell contamination. The samples are then sent to the laboratory for analysis using techniques like chromosomal array CGH, karyotyping, and FISH.

• A detailed clinical history, including the anomaly scan report, must be submitted. • A duly signed consent form as per PCPNDT guidelines is mandatory. • Follow any instructions provided by your healthcare professional regarding pre-test fasting, medications, or other specific preparations. • Inform your doctor if you have any specific requirements.

• Non-invasive prenatal testing (NIPT): A blood test used to screen for common chromosomal abnormalities. • Genetic counselling: Consultation with a genetic counsellor to discuss the test results, potential risks, and available options.

Prenatal chromosomal microarray or Prenatal karyotype

Genetic conditions in a foetus refer to disorders or abnormalities caused by changes or mutations in genes or chromosomes. These conditions can affect various aspects of development, health, and well-being.