Pregnancy is a beautiful journey; it is filled with a lot of emotions and curiosity to know about the well-being of your growing baby and a few features of the baby (like eye colour, hair type, and mainly about any health issues if there are any).
Generally, a developing baby has 22 pairs of chromosomes and a single pair of X chromosomes in a female foetus (22 pairs + XX), and has 22 pairs of chromosomes and a single X and single Y chromosome in a male foetus (22 pairs + XY).
Any extra chromosome is considered to be an abnormal condition and results in different chromosomal abnormalities like Down syndrome, Patau syndrome, Edwards syndrome, etc.
So, during the 1st trimester, a lot of screening tests are to be done. One of these screening tests is the double marker test. Generally, it is commonly performed with an NT scan (ultrasound test — it is also a screening test done during the 1st trimester of pregnancy).
What is Double Marker Test?
Double Marker Test is a screening test, not a diagnostic test. It is also known as a maternal serum test (as the mother’s blood sample is taken to perform the test).
This test is performed during the 1st trimester screening of an expectant mother. It is a screening test, or can be called a predictive test, as it only predicts the risk or chance of having chromosomal disorders/abnormalities in the developing foetus. It is a non-invasive test; therefore, it doesn’t harm the developing baby in the womb.
It is called the double marker test because it measures the levels of two things in the blood. One of them is free beta-hCG (human chorionic gonadotropin), and the other is PAPP-A (pregnancy-associated plasma protein-A).
The blood serum levels of these two markers in the expectant mother give the likelihood of chromosomal abnormalities such as:
- Down syndrome (trisomy of chromosome no. 21)
- Edwards syndrome (trisomy of chromosome no. 18)
- Patau syndrome (trisomy of chromosome no. 13)
Why is it important to undergo the Double Marker Test?
As the Double Marker Test is an early screening test done during the 1st trimester of pregnancy, it plays an important role in screening the developing baby for various diseases. A few reasons are given below:
1. Early detection of any chromosomal abnormalities:
The most important and vital role of the Double Marker Test is to detect any abnormality in the baby early. If any condition is suspected in the developing baby, it can be treated earlier, and if there is no treatment for that condition, then it depends on the parents’ decision on how they want to proceed with the pregnancy further.
2. Guidance for any further diagnostic testing:
The Double Marker Test gives an idea about the level of risk of having chromosomal abnormalities in the developing baby. Based on this, a doctor can decide whether any further investigation is needed or not. If the risk is low, no diagnostic test is needed, but if the risk is high, a diagnostic test must be done for confirmation.
3. Peace of mind or reassurance:
This result can provide assurance to the expecting parents about their growing baby’s health — whether he or she is healthy or not.
4. Better accuracy with NT scan:
As the Double Marker Test is generally performed along with the NT scan (ultrasound test), it results in better accuracy of the report.
When this test can be performed during pregnancy?
The Double Marker Test is generally performed under the 1st trimester screening tests. In this, a lot of screening tests are done during the 1st trimester of pregnancy. The Double Marker Test can be performed between the 8th and 14th week of pregnancy. The best time to give the sample for the Double Marker Test is between the 11th and 13th week of pregnancy. Basically, it is performed during the 1st trimester as part of the prenatal screening of the expecting mother.
Who must undergo the Double Marker Test?
DMT is recommended when:
But it is important to note that DMT is a screening test; it only tells about the risk of chromosomal abnormalities. It does not definitively diagnose anyone with any disease. For confirmation, you have to undergo a diagnostic test.
Procedure of Double Marker Test:
It is a simple blood test, non-invasive, and a screening test, not a diagnostic test.
It is a non-fasting test (you don’t have to fast to undergo this test, unlike many other tests). The two markers of this test deviate from their normal range if there is any risk of chromosomal abnormality present in the growing baby.
Procedure involves:
- Sample collection: A blood sample is collected from the expecting mother’s right arm (usually).
- Laboratory procedure: After the blood sample is collected, it is sent to the lab, where the levels of β-hCG and PAPP-A are measured in the blood serum of the expecting mother.
- Report: Generally, you receive the report after 3 days to 1 week of giving the sample. After the lab procedure, a report is made in which the levels of β-hCG and PAPP-A are mentioned, and the doctor gives further advice after reviewing the results.
Risk associated with the Double Marker Test
It is a routinely performed screening test, and it is non-invasive, so it cannot harm the baby or the expecting mother. Therefore, there is no risk associated with DMT.
Result Interpretation of Double Marker Test
Results can be standard or abnormal. First, we will discuss the standard/normal result of DMT in the risk ratio format:
Normal Result – Screen negative:
It means your baby has a very low risk of developing any chromosomal abnormality. So, it is considered a normal result.
If the result is normal, then there is no need to undergo a diagnostic test unless there are other factors (i.e., risk of having chromosomal abnormalities such as family history, etc.).
As it is a screening test, sometimes false-negative results can occur. So, it does not mean your baby will definitely not have any issue; there is still a very low probability of an issue.
The normal range of β-hCG and PAPP-A is 1:1000, meaning only one baby has a chance of developing an abnormality out of 1000 babies.
Abnormal Results – Screen +ve (positive):
It means your baby has a moderate to high risk of developing any chromosomal abnormality. You can consult a doctor to learn more.
For confirmation of any abnormality, you can undergo diagnostic tests such as amniocentesis or chorionic villus sampling (CVS). These tests can provide a definitive result.
The abnormal result range of β-hCG and PAPP-A is 1:250, which means that out of 250 babies, one baby may develop a chromosomal abnormality.
| Category | Normal Result (Screen Negative) | Abnormal Result (Screen Positive) |
| Meaning | Baby has a very low risk of chromosomal abnormalities. | Baby has a moderate to high risk of chromosomal abnormalities. |
| Risk Ratio | 1:1000 → 1 baby out of 1000 may have an abnormality. | 1:250 → 1 baby out of 250 may have an abnormality. |
| Need for Diagnostic Tests? | Not required unless there are additional risk factors (family history, maternal age, etc.). | Doctors may advise CVS or amniocentesis for confirmation. |
| Accuracy Notes | False negatives are possible. A normal result does not guarantee zero risk, but risk remains very low. | A positive screen does not confirm a condition—only shows higher risk. Final diagnosis needs confirmatory testing. |
What happens after getting abnormal results:
Genetic counselling:
If the results of the DMT are positive, the first thing that should be done is genetic counselling of the parents. In this, a counsellor explains the test results, gives clarity about the risk, and discusses the options available further for the condition.
Diagnostic tests:
By now, you know very well that DMT is only a screening test, not a diagnostic test. So, to confirm the risk, you need to undergo diagnostic tests. The diagnostic tests available are:
• Chorionic villus sampling (CVS)
• Amniocentesis
• Another alternative test is the Non-Invasive Prenatal Test (NIPT) — a modern and highly accurate test done during the 11th to 13th weeks of pregnancy. It analyses small fragments of fetal DNA circulating in the mother’s bloodstream.
⭐ Case Study 1 (Real story explained simply)
A 32-year-old mom-to-be had a completely normal NT scan, but her DMT report showed slightly unusual marker levels that pushed her risk score to 1:280. Her doctor reassured her that this sometimes happens when the markers fluctuate for harmless reasons.
To avoid unnecessary stress, she was advised to take an NIPT. The NIPT came back low risk, and she went on to have a healthy baby girl.
Why this matters:
Screening tests can trigger anxiety, but they are not final answers. This case shows why confirmatory tests like NIPT are recommended before jumping to conclusions.
⭐ Case Study 2 (High-risk pregnancy example)
A 38-year-old pregnant woman received a DMT result showing very low PAPP-A and a Down syndrome risk score of 1:80. Because of her age and marker pattern, her doctor recommended genetic counselling followed by a CVS test.
The CVS confirmed the diagnosis. The couple received full support, counselling and time to understand their options and make an informed, compassionate decision for their family.
Why this matters:
Higher maternal age plus abnormal DMT values increase the chances of chromosomal conditions — which is why doctors strongly recommend confirmatory tests in such cases.
Research Insight
Research shows that very low PAPP-A levels in the first trimester can be linked with higher risks of problems later in pregnancy — for example, pre-eclampsia or the baby not growing well. One study that followed nearly 1,000 pregnancies found PAPP-A below the 10th percentile was associated with increased risk of pre-eclampsia and growth restriction, though most women with low PAPP-A still have healthy babies. That’s why doctors always interpret the double-marker numbers together with the NT ultrasound and other clinical factors rather than treating any single value as a diagnosis.”
(See Gomes et al., 2017 — full reference)
Benefits of the Double Marker Test:
- Supports early decisions: DMT helps guide whether any further testing or management is needed.
- Essential for high-risk pregnancy: It is especially beneficial for women who are above 35 and expecting a baby, or for those with a family history of chromosomal abnormalities.
- Reduces anxiety: Standard results can provide assurance to parents and reduce stress during early pregnancy.
- Prepares for specialized care: If a high risk is identified through DMT reports, it helps in early preparation for medical intervention if possible for that condition.
- Cost-effective:
It provides a reliable initial screening before undergoing more expensive diagnostic tests
Frequently Asked Questions (FAQs):
Note from Femwise Health
If you are still confused about whether you should undergo this test or not, then start by reading the advantages and disadvantages of this test, and then decide what to do. Don’t forget to take good advice from your doctor.
Glossary terms:
- Trisomy – When a chromosome repeats itself thrice instead of twice.
- Screening test – Not a confirmatory test; it only estimates the chances or presence of any condition.
- Diagnostic test – These tests provide confirmatory findings regarding any condition.
- NT (nuchal translucency) – Measurement of the fluid present behind the neck of the fetus through ultrasound. Increased value indicates a higher risk.
