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Quadruple Reflex to NIPT Test

Quadruple Reflex to NIPT Test

The Quadruple Reflex to NIPT (Non-Invasive Prenatal Testing) is a sequential screening approach used in prenatal care. It begins with the Quadruple Marker Test in the second trimester and, if results indicate a higher risk of chromosomal abnormalities, a follow-up NIPT is recommended for more accurate risk assessment. This two-step process allows for better identification of conditions such as Down syndrome (Trisomy 21), Trisomy 18, Trisomy 13, and neural tube defects while minimizing unnecessary invasive procedures like amniocentesis.

Which Tests are Included?

The Quadruple Marker Test measures:

  • Alpha-Fetoprotein (AFP): Detects neural tube defects and other fetal abnormalities.
  • Human Chorionic Gonadotropin (hCG): High or low levels may indicate chromosomal abnormalities.
  • Unconjugated Estriol (uE3): Low levels may suggest developmental issues.
  • Inhibin-A: Elevated levels are associated with chromosomal abnormalities.

NIPT- If the Quadruple Marker Test shows an elevated risk, NIPT is reflexively performed to provide a more specific analysis using cell-free fetal DNA (cfDNA) from maternal blood.

Who Should Consider This Test?

  • Women who receive an intermediate or high-risk result from the Quadruple Marker Test.
  • Pregnant individuals over the age of 35, where chromosomal abnormalities are more prevalent.
  • Those with a family history of genetic disorders.
  • Women who have had previous pregnancies affected by chromosomal abnormalities.

Preparation for the Test

No special preparation is required for Quadruple Marker. It is conducted via a blood draw between 15 to 20 weeks of pregnancy. If required, a second blood sample is drawn to analyze cell-free fetal DNA. No fasting or special preparation is needed. Inform your doctor about any medications or supplements you are taking.

Interpretation of Test Results

NIPT has a higher accuracy in detecting chromosomal abnormalities compared to traditional serum-based screening.

Step 1: Quadruple Marker Test Results

  • Normal Risk: No further testing required.
  • Elevated Risk: Reflex to NIPT is recommended.

Step 2: NIPT Results

  • Low Risk: No further testing needed; pregnancy continues with routine monitoring.
  • High Risk: Further diagnostic testing (amniocentesis or CVS) may be recommended for confirmation.

FAQs

What is the difference between Quadruple Marker Test and NIPT?

The Quadruple Marker Test assesses the risk based on maternal serum markers, while NIPT analyzes fetal DNA from the mother’s blood, offering a more precise result.

Does an abnormal result mean my baby has a genetic disorder?

No, an abnormal result indicates a higher risk. Further testing, such as amniocentesis or CVS, is needed for confirmation.

Is NIPT safe for the baby?

Yes, NIPT is a non-invasive blood test that poses no risk to the fetus.

How long does it take to receive results?

Quadruple Marker Test results take 3 to 7 days, while NIPT results are typically available within 5 to 10 days.

Can NIPT replace the Quadruple Marker Test?

In some cases, NIPT may be offered directly; however, Quadruple Marker Test remains widely used as an initial screening tool, with NIPT serving as a follow-up for high-risk cases.

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