Non-Invasive Prenatal Testing (NIPT) is a screening test used during pregnancy to assess the risk of certain genetic conditions such as congenital abnormalities in the fetus’s DNA.
Here’s a detailed overview:
What is NIPT?
NIPT, also known as cell-free DNA (cfDNA) screening, analyzes small fragments of fetal DNA that circulate in a pregnant person’s blood. These fragments mostly come from the placenta and are usually identical to the fetus’s DNA.
What Does It Screen For?
NIPT primarily screens for:
- Down syndrome (Trisomy 21)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
- Sex chromosome abnormalities (e.g., Turner syndrome, Klinefelter syndrome)
- Fetal sex determination (optional)
Some advanced panels may also screen for microdeletions or single-gene disorders.
When Can It Be Done?
- Typically offered from 10 weeks of pregnancy onward.
- Some labs may offer it as early as 9 weeks.
Benefits
- Non-invasive: Requires only a blood sample from the pregnant person.
- Safe: No risk to the fetus.
- Accurate: High sensitivity and specificity for common trisomies.
Limitations
- Not diagnostic: It estimates risk but does not confirm a diagnosis.
- False positives/negatives: May occur, especially for rare conditions.
- Follow-up testing: Positive results usually require confirmation via invasive tests like amniocentesis or chorionic villus sampling (CVS).
Who Should Consider It?
- Anyone can opt for NIPT, but it’s especially recommended for:
- Women over 35
- Those with a history of chromosomal abnormalities
- Abnormal ultrasound findings
- Previous positive screening results
References
[1] NIPT Test (Noninvasive Prenatal Testing): What To Expect – Cleveland Clinic
[2] What is noninvasive prenatal testing (NIPT) and what disorders can it …
[3] NIPS/NIPT Non Invasive Chromosome Testing | Women’s Health – Labcorp