NIPT (Non-Invasive Prenatal Testing)

NIPT (Noninvasive Prenatal Testing) ตรวจคัดกรองโรคโครโมโซมผิดปกติหลังตั้งครรภ์

NIPT (Non-Invasive Prenatal Testing) is a screening test used during pregnancy to detect the risk of certain chromosomal abnormalities in the fetus.

It’s performed by taking a simple blood sample from the pregnant mother, typically after 10 weeks of gestation. This blood sample contains fragments of DNA from both the mother and the developing fetus (called cell-free fetal DNA or cfDNA). The lab then analyzes this cfDNA for extra or missing pieces of chromosomes.

NIPT is most commonly used to screen for:

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Sex chromosome aneuploidies (e.g., Turner Syndrome, Klinefelter Syndrome)

Key Points about NIPT:

  • Screening Test: It’s important to remember that NIPT is a screening test, not a diagnostic test. This means it can tell you if there’s a higher or lower risk of a condition, but it doesn’t give a definitive diagnosis. If NIPT results show a high risk, further diagnostic testing (like amniocentesis or chorionic villus sampling – CVS) would be recommended to confirm the finding.

  • Non-Invasive: Because it only requires a blood draw from the mother, it carries no risk of miscarriage to the pregnancy, unlike invasive diagnostic tests.

  • Timing: It can be performed as early as 10 weeks of pregnancy.

  • Accuracy: NIPT is highly accurate for common trisomies (like Down syndrome) compared to traditional maternal serum screening, but its accuracy can vary for rarer conditions.

NIPT has become a valuable tool in prenatal care, especially for women of advanced maternal age or those with other risk factors, as it helps to provide early information about the genetic health of the baby without invasive procedures.