7009. Karyotyping (amniotic fluid, GTG-method, prenatal diagnosis)

Amniotic fluid karyotyping is a prenatal diagnostic method for detecting fetal chromosomal abnormalities. The test is performed after amniocentesis, starting at 16 weeks of pregnancy, to detect dangerous genetic abnormalities, including trisomies, deletions, and translocations.

This is a cytogenetic test that involves analyzing the karyotype of cells obtained from amniotic fluid.

It is performed using the Giemsa Trypsin G-banding (GTG) method, which allows for the assessment of:

• the number of chromosomes (normal or trisomies/monosomies);
• chromosomal structure (deletions, duplications, inversions, translocations);
• the presence of genetic abnormalities that cannot be detected using noninvasive tests.

The test is used as part of invasive prenatal diagnostics to confirm or exclude congenital and hereditary pathologies in the fetus. The reliability and accuracy of the method exceeds 99%.

• Pregnant women with a positive or inconclusive non-invasive screening result (PRISCA, ASTRAIA, NIPT).
• If there are ultrasound signs of fetal abnormalities.
• Women aged 35 years and older – increased risk of chromosomal changes.
• If they have a history of hereditary diseases or have had previous pregnancies.
• If a child from a previous pregnancy has been diagnosed with a genetic disorder.
• If couples with a family history are planning a pregnancy.

• Amniotic fluid