Non-Invasive Prenatal Testing (NIPT)

NIPT, also known as cell-free DNA (cfDNA) screening, is a prenatal aneuploidy screening option. NIPT safely and noninvasively screens for the most common chromosomal aneuploidies as early as 10 weeks’ gestation, using a single maternal blood draw.
Quick Reference
Test Code: 9080 Test Name: NIPT Singleton TAT: 5-7 days Genes: -
Test Code: 9081 Test Name: NIPT Twin TAT: 5-7 days Genes: -

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Why Is This Important?

  1. Screen for the presence of T21, T18 and T13 with the most accurate prenatal aneuploidy screening test available
  2. Gain insights into prenatal genetic health risks as early as week 10
  3. Reduce the number of invasive procedures in unaffected pregnancies
  4. The American College of Medical Genetics and Genomics (ACMG) recommends informed decision-making as a part of the carrier screening and NIPT process.

Limitations of the Test

  1. NIPT (non-invasive prenatal testing) based on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic.
  2. False-positive and false-negative results do occur.
  3. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision.
  4. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or subchromosomal abnormality.
  5. This test does not screen for birth defects such as open neural tube defects, or other conditions, such as autism.
  6. Some NIPT tests do not screen for polyploidy (eg, triploidy) or single gene disorders.
  7. There is a small possibility that the test results might not reflect the chromosomal status of the fetus but may instead reflect chromosomal changes in the placenta (ie, confined placental mosaicism [CPM]) or in the mother that may or may not have clinical significance.

When To Consider Testing

NIPT can be performed as early as 10 weeks of gestation and until term

Test Description

There is a small possibility that the test results might not reflect the chromosomes of the fetus but may reflect chromosomal changes of the placenta (confined placental mosaicism or CPM) or of you (maternal chromosomal abnormalities). Examples are, but are not all inclusive, maternal XXX, sex chromosome status, or benign and malignant maternal neoplasm. Some CPM cases have been associated with a higher chance for pregnancy complications or for uniparental disomy (UPD) depending on the chromosome in question, which may affect the growth and development of the fetus. Some of these rare chromosomal aneuploidies have been found to occur only in mosaic form. Clinical consequences depend on the chromosome(s) involved and cannot be predicted during the pregnancy. This test, like many tests, has limitations, including false negative and false positive results. A negative test result does not guarantee the pregnancy is unaffected.

TEST METHOD: Nucleic Acid extraction, DNA sequencing, and analysis of sequencing results to determine fetal aneuploidy

Ambry Genetics does not provide prenatal diagnosis for the conditions included on NIPT. Individuals desiring prenatal diagnosis for an at-risk fetus should be referred for genetic counseling and coordination of additional testing.

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