hi experts, My SIL is 5month pregnant, in her 5th month, Dr. told that there's a 1%chance of baby having down syndrome. what is the further diagnosis for this. But my query is also they have to check this in 3rd month scan itself right

Question

Accepted Answer

yes during third month there is NT scan done in which if the reports are normal than there is minimum chances of downs syndrome to the baby and also if the double marker is normal there is nothing to worry about down syndrome

Accepted Answer

It's understandable to be concerned about this. Typically, screening for Down syndrome is done in the first trimester (around 11-13 weeks) with a combination of ultrasound (nuchal translucency scan) and blood tests. However, further diagnostic tests can be performed if there's a higher risk identified later in pregnancy.

For further diagnosis at this stage (five months pregnant), your doctor may recommend:

1. **Non-Invasive Prenatal Testing (NIPT)**: A blood test that analyzes fetal DNA in the mother's blood to assess the risk of Down syndrome and other chromosomal abnormalities.
   
2. **Amniocentesis**: A procedure where a small amount of amniotic fluid is taken from around the baby to test for chromosomal abnormalities. This is usually done between 15-20 weeks of pregnancy and provides a definitive diagnosis.

3. **Detailed Ultrasound**: An in-depth scan to look for physical markers associated with Down syndrome.

It's best to discuss these options with your doctor to understand the risks and benefits of each method and to make an informed decision.