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The Down Syndrome screening test involves taking a pregnant woman’s blood, separating the serum, and testing it to calculate the risk coefficient of giving birth to a child with congenital defects. It is recommended to be done between the 9th to 14th week of pregnancy.

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If you undergo a Down syndrome screening around the fourth and a half month of pregnancy and the results indicate a high risk of neural tube defects, further examination is needed. Options include DNA testing or amniocentesis.

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A 29-year-old pregnant woman, 19 weeks and 4 days pregnant, had a blood test for Down syndrome and the result showed a critical risk of trisomy 21. She inquired about whether she should undergo amniocentesis or non-invasive DNA testing.

Down syndrome screening is generally done once, with the optimal time being between 15 to 20 weeks of pregnancy. If the screening results indicate a higher risk, further diagnostic tests such as amniocentesis or non-invasive prenatal testing (NIPT) may be recommended for confirmation.

When is it most appropriate to perform a Down syndrome screening during pregnancy?

Down syndrome screening is typically conducted between 16 to 20 weeks of pregnancy for more accurate results.