What is noninvasive prenatal testing (NIPT)

What Is Noninvasive Prenatal Testing (NIPT)? 🤰

Noninvasive Prenatal Testing (NIPT), also known as cell-free DNA (cfDNA) screening, is a modern, safe method to assess a fetus’s risk for certain genetic abnormalities. Performed via a simple blood draw from the mother, it analyzes tiny fragments of DNA—some originating from the placenta, which genetically mirrors the fetus—floating in her bloodstream

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When can NIPT be done during pregnancy?

Answer: NIPT is available as early as around 9–10 weeks into pregnancy, once sufficient fetal DNA is detectable in the maternal blood .

What conditions can NIPT screen for—and how accurate is it?

Answer:

• Common trisomies: The test has a sensitivity and specificity over 99% for Down syndrome, and slightly lower (97–99%) for trisomy 18 and trisomy 13 .
• Sex chromosome anomalies: Including Turner syndrome (45,X) and Klinefelter syndrome (47,XXY).
• Additional findings (depending on the panel): Some tests can report fetal sex, RhD status, and select microdeletions—though these have lower predictive values and may require further confirmation through diagnostic testing .

How is NIPT different from diagnostic tests like amniocentesis or CVS?

Answer:

• NIPT: Is a screening test, offering a high level of accuracy but does not provide a definitive diagnosis.
• Amniocentesis/CVS: These are diagnostic procedures that definitively confirm chromosomal abnormalities but carry a small miscarriage risk (~0.1–0.3%) .
  A positive NIPT result should be followed up with diagnostic confirmation; a negative result doesn’t guarantee the absence of all genetic conditions.

Are there any limitations or situations where NIPT might not be appropriate?

Answer:

• False positives/negatives: Although rare (false positive rates ~1–3%), they do occur.
• Early testing risk: Testing too early may not provide reliable results due to low fetal DNA levels.
• Does not detect all conditions: For example, neural tube defects require traditional screening in the second trimester (ultrasound or maternal serum tests).
• Special considerations: The accuracy of NIPT may be affected in cases of twin/multiple pregnancies, high maternal BMI, or certain placental/maternal conditions.
• Counseling is essential: Genetic counseling both before and after testing helps parents understand results and next steps .