Once a woman becomes pregnant, one question naturally comes to mind again and again:

“Is my baby healthy?”

Today, medical technology has advanced to a point where certain chromosomal conditions can be screened during pregnancy itself, often early enough to help doctors and families prepare ahead of time.

One of the most important conditions doctors look for during pregnancy is Down syndrome.

What is Down Syndrome?

Down syndrome is a chromosomal condition caused by an extra copy of chromosome 21, also called Trisomy 21.

Children with Down syndrome may experience:

• Delayed mental and physical development

• Learning difficulties

• Delayed speech

• Low muscle tone or muscle weakness

• Congenital heart defects in some cases

The severity varies from child to child. With proper medical care, therapy, education, and family support, many individuals with Down syndrome can live meaningful and productive lives.

Can Down Syndrome Be Detected During Pregnancy?

Yes.

Today, several prenatal screening tests can help estimate the risk of Down syndrome before birth.

These are called screening tests because they do not confirm the condition directly. Instead, they help determine whether the pregnancy falls into a low-risk or high-risk category.

If the screening result shows a higher risk, doctors may recommend further diagnostic testing.

Which Tests Help Detect Down Syndrome During Pregnancy?

Dual Marker Test

The Dual Market Test is one of the most commonly recommended first-trimester screening tests.

It is usually performed between:

• 11 weeks
  and

• 13 weeks 6 days of pregnancy

This screening combines:

• A blood sample from the mother

• Ultrasound findings, especially the NT Scan (Nuchal Translucency scan)

The blood test measures two important markers:

• Free Beta-hCG

• PAPP-A

These values are analyzed together with:

• Maternal age

• Weight

• Pregnancy details

• Ultrasound measurements

The test helps estimate the risk of:

• Down syndrome (Trisomy 21)

• Edwards syndrome (Trisomy 18)

• Patau syndrome (Trisomy 13)

If the report shows low risk, there is usually no major cause for concern. If the report shows high risk, additional testing may be advised.

Quadruple Marker Test

If first-trimester screening was not performed, doctors may advise the during the second trimester.

This test is generally performed between:

• 15 and 22 weeks of pregnancy

It measures four substances in the mother’s blood:

• AFP (Alpha-fetoprotein)

• hCG

• Estriol

• Inhibin A

The test helps assess the risk of:

• Down syndrome

• Neural tube defects

• Certain chromosomal abnormalities

NIPT (Non-Invasive Prenatal Testing)

NIPT is one of the most advanced prenatal screening tests available today.

This test analyzes small fragments of fetal DNA present in the mother’s blood.

NIPT can screen for:

• Down syndrome

• Trisomy 18

• Trisomy 13

• Certain sex chromosome abnormalities

The test is non-invasive, meaning it only requires a blood sample from the mother and does not harm the baby.

NIPT may be especially recommended if:

• The mother is above 35 years of age

• Previous pregnancies had chromosomal abnormalities

• Ultrasound findings appear suspicious

• Dual Marker or Quadruple Marker tests show high risk

Are These Tests Confirmatory?

No.

This is an important point many families misunderstand.

Dual Marker, Quadruple Marker, and NIPT are screening tests, not final diagnostic tests.

They estimate risk, but they do not provide a definitive diagnosis.

If a screening report shows high risk, doctors may recommend confirmatory tests such as:

• Amniocentesis

• Chorionic Villus Sampling (CVS)

These tests directly analyze fetal chromosomes and can confirm the diagnosis more accurately.

Why is Early Screening Important?

Early screening helps:

• Detect potential risks early in pregnancy

• Guide further medical decisions

• Plan pregnancy care more effectively

• Reduce uncertainty for families

• Allow closer monitoring when necessary

Timely screening also gives families and doctors more time to understand the situation and decide on the next steps.

Prenatal Screening at National Path Lab

At National Path Lab, advanced prenatal screening services are available, including:

• Dual Marker Test

• Quadruple Marker Test

• NIPT

• Hormonal and genetic screening tests

Our focus is on accurate reporting, advanced diagnostics, and reliable testing support for doctors and families across Nepal.

Under the risks before it is too late 

Modern prenatal screening has made it possible to assess the risk of chromosomal conditions such as Down syndrome before birth.

Tests like the Dual Marker Test, Quadruple Marker Test, and NIPT help doctors identify pregnancies that may require closer monitoring or further testing.

If you are pregnant, consult your doctor about which screening test may be appropriate for your stage of pregnancy.