SMA Gene – SMN Microdeletion - PNDT

This is usually a one-time test, performed during pregnancy when there is a known risk of SMA.

A normal result would typically show two copies of the SMN1 gene. However, results should always be interpreted by a genetic specialist.

There are no specific precautions for this test. However, considering its implications, genetic counseling is recommended before and after the test.

No. Genetic mutations or deletions are inherited and cannot be altered.

The test results are entirely based on the genetic makeup of the fetus, which is determined at conception and remains constant throughout life.

Abnormal results should be discussed with a geneticist or a specialist in maternal-fetal medicine. These professionals can provide appropriate guidance and management options.

The sample collection for this test involves invasive procedures like amniocentesis or chorionic villus sampling which carry risks such as miscarriage, infection, or bleeding. It's important to discuss these risks with your doctor.

No, other medical conditions do not impact the results of this genetic test.

No, medications do not influence the results of this genetic test.

A positive result means that the fetus has a deletion in the SMN1 gene, indicating a high risk of developing SMA.

No, genetic variations cannot be changed. However, understanding the results can help in planning for the future management of the child's health.

While there is no cure for SMA, early diagnosis allows for early initiation of supportive care and interventions, which can improve the child's quality of life.

Yes, if both parents are carriers of the SMN1 deletion, the unborn baby has a 25% chance of having SMA.

No specific preparation is needed. However, consider genetic counseling before and after the test to understand its implications.

A consistently positive result indicates a high risk of the baby developing SMA.

This test is highly accurate but should always be interpreted alongside clinical and familial data.

Your doctor may order other prenatal tests to assess the overall health of the fetus.

The SMA Gene – SMN Microdeletion - PNDT test can guide decision-making during pregnancy and help prepare for the future. It's important to have open discussions with your doctor and understand all implications before proceeding with the test.