Down Syndrome
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (known as trisomy 21). This additional genetic material affects the way the body and brain develop, resulting in characteristic facial features, varying levels of intellectual disability, and an increased risk of certain medical conditions such as heart defects, thyroid disorders, and hearing problems.
It is one of the most common chromosomal conditions, occurring in approximately 1 in 700 pregnancies.
Screening Methods to Identify High-Risk Pregnancies
The following tests help determine the likelihood of Down syndrome during pregnancy:
1. Biochemical screening
Biochemical maternal screening involves measuring specific maternal serum markers during pregnancy to assess the risk of fetal aneuploidies, such as Down syndrome, Edwards syndrome, and Patau syndrome. help estimate risk, but abnormal results require confirmation through diagnostic tests.
First-trimester
Double marker
Combined screening
Second-trimester
Triple Screen
Quad Screen
Penta Screen
2. Non-Invasive Prenatal Testing (NIPT)
It is a blood-based screening test that analyzes fetal cell-free DNA in the mother’s bloodstream to assess the risk of chromosomal abnormalities such as Down syndrome, Edwards syndrome, and Patau syndrome. It is safe, non-invasive, and poses no risk to the pregnancy. As a screening test, any high-risk result must be confirmed with diagnostic testing.
3. Targeted soft marker ultrasound scan
A soft marker scan is a detailed first and second-trimester ultrasound scan that looks for subtle ultrasound findings—called soft markers—that may indicate an increased risk of Down syndrome and certain other chromosomal conditions.
Soft markers are not birth defects; they are minor ultrasound variations that often resolve on their own. However, when present, they may slightly increase the chance of an underlying chromosomal condition.
Committed to precise diagnostics, empathetic guidance, and advanced fetal care — supporting mothers and babies at every step of their journey.
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