Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing

Also known as: NIPT NGSAN

Clinical Use

Use

The Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing is a first- or second-tier screening test for common fetal aneuploidy disorders including trisomy 13, trisomy 18, trisomy 21 (Down syndrome), Turner syndrome, and sex chromosome aneuploidies (XXX, XXY, XYY). It is intended for use in pregnant women with singleton pregnancies from 10 weeks gestation to term. The test may also be ordered for pregnancies involving egg donors or surrogates. This screen is not applicable for pregnancies with known twin demise. This NIPT is designed to provide an assessment of risk for chromosomal abnormalities and should be followed by diagnostic testing if high-risk results are obtained.

Special Instructions

Not provided.

Limitations

This screening test does not assess deletions or duplications within a chromosome, polyploidy, maternal abnormalities, balanced chromosome rearrangements, or chromosomal aneuploidies not included in the scope (e.g., beyond trisomy 13, 18, 21, Turner syndrome, XXX, XXY, XYY). The test has reduced sensitivity for samples with a fetal fraction below 4.0 percent. Other factors like recent maternal blood transfusion, organ transplant, surgery, immunotherapy, malignancy, fetal demise, vanishing twin, or potential mosaicism of the fetus, mother, or placenta may confound results. The test is not cleared by the FDA and is performed in a CLIA-certified laboratory for clinical purposes.

Test Details

New York Approved