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Double Marker Reflex to NIPT

Double Marker Reflex to NIPT

This test is used to determine the risk of chromosomal abnormalities in the fetus. It aids in the screening of chromosomal abnormalities and genetic disorders in the fetus during pregnancy.

Therefore, it is recommended for expectant mothers to get this test done to evaluate the potential risk of their baby having a chromosomal disorder

What is Double Marker Reflex to NIPT used for?

Double Marker Reflex to NIPT in pregnant women helps to identify the risk for:

Trisomy 21 (Down syndrome)

Trisomy 21 (Down syndrome)

Trisomy 18 (Edward’s syndrome)

Trisomy 18 (Edward’s syndrome)

What tests are included in the Double Marker Reflex to NIPT?

The blood sample is tested for:

• Free Beta hCG (Human Chorionic Gonadotropin):

  • This hormone is produced by the placenta. In pregnant women whose fetus has Down syndrome, the hCG level tends to be higher. Conversely, in fetuses with Edward’s syndrome, the hCG levels are lower

Pregnancy associated plasma protein (PAPP-A):

  • It is initially synthesized by the developing placenta. Throughout the course of a typical pregnancy, the concentration of this protein gradually rises in the bloodstream of the expectant mother until childbirth. A decrease in PAPP-A levels is commonly observed in Down syndrome or Edwards syndrome

Who should get tested?

This test is recommended for pregnant women who are at high risk of having a child with chromosomal abnormality. The following factors can increase the risk of genetic abnormality in the fetus:

Advanced maternal age (>35 years)

Advanced maternal age (>35 years)

History of infertility

History of infertility

History of stillbirths

History of stillbirths

Nutritional deficiencies (e.g. iron)

Nutritional deficiencies (e.g. iron)

Diabetes

Diabetes

Hypothyroidism

Hypothyroidism

Infections (e.g. rubella, syphilis)

Infections (e.g. rubella, syphilis)

Alcohol consumption

Alcohol consumption

Obesity

Obesity

Smoking

Smoking

Consanguinity

Consanguinity

Genetic factors

Genetic factors

Preparation for Test

No special preparation is required for the Double Marker Reflex to NIPT.

Interpretation of Test Results

Positive (abnormal result)

If the Double Marker Reflex to NIPT result is abnormal, there may be an increased risk of chromosomal disorders such as Down syndrome or Edward’s syndrome. However, this result does not definitively indicate the presence of a disorder. NIPT is typically conducted only when the Double Marker result suggests a high risk of chromosomal disorder. Additional diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, are necessary to confirm the diagnosis.

Negative (normal result)

If the Double Marker Reflex to NIPT result is normal, it indicates a decreased likelihood of chromosomal abnormalities. It is important to note that this outcome does not ensure the absence of genetic abnormalities in the baby. Rather, it indicates a lower risk based on the screening conducted.

FAQs

How is the sample collected for a Double Marker Reflex to NIPT?

A blood sample is collected from a vein in your arm using a small needle. Usually, this procedure does not take more than 5 minutes

What are the risks involved in a Double Marker Reflex to NIPT?

This test involves negligible risk. There might be slight pain or tenderness around the site where the needle went in. Rarely, the site can become infected

What is the turnaround time (TAT) for the results of a Double Marker Reflex to NIPT?

Results of a Double Marker Reflex to NIPT are usually available within 3-7 days. This duration may vary depending on the particular diagnostic clinic

When is Double Marker Reflex to NIPT performed?

This test is typically done between the 10th and 13th weeks of pregnancy which provides an early indication of the likelihood of chromosomal abnormalities

Why is it necessary to get a Double Marker Reflex to NIPT done?

Double Marker Reflex to NIPT test aids in early detection of abnormalities in fetuses and determines if further testing is required. Early detection allows for specialized prenatal treatment and regular monitoring of fetus health

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