Non-Invasive Prenatal Testing (NIPT)

Genesys Diagnostics offers Non-Invasive Prenatal Testing (NIPT), a genetic screening method that utilizes sequencing technology to analyze fetal DNA (cfDNA) from maternal blood. With high sensitivity and specificity, our NIPT test provides accurate and reliable results for detecting common chromosomal abnormalities, as well as fetal sex determination and microdeletions.

We offer testing options for both singleton pregnancies as well as twin pregnancies. NIPT can provide healthcare providers with valuable insights for their patient's prenatal care and can aid in clinical decision-making.

We have a team of genetic counselors who can meet with providers and patients to discuss any clinically significant results and discuss important implications and next steps with your patients.

Specimen Requirements: Minimum 7 mL blood, collected in a cell-free DNA (tiger-top) tube.

Additional Options (for Single Pregnancies Only)
  • Microdeletions: Wolf-Hirschhorn syndrome, cri-du-chat syndrome, Prader-Willi syndrome/Angelman syndrome, DiGeorge syndrome

  • All Chromosomes (Includes sex chromosome aneuploidies)

Insurance requirements vary for additional options*

Single Pregnancies
  • Chromosome 13 (Patau Syndrome)

  • Chromosome 18 (Edward's Syndrome)

  • Chromosome 21 (Down Syndrome)

  • Sex Chromosome Aneuploidies: MX, XXX, XXY, and XYY

Twin Pregnancies
  • Chromosome 13 (Patau Syndrome)

  • Chromosome 18 (Edward's Syndrome)

  • Chromosome 21 (Down Syndrome)

  • Presence of Y chromosome

The NIPT testing process begins when plasma is isolated from specialized blood tubes that preserve cell-free DNA (cfDNA) from genomic contamination.

This cfDNA, containing a mix of maternal and fetal DNA is extracted from the plasma and tagged for use in sequencing.

NIPT uses whole-genome next-generation sequencing (NGS) technology. The test analyzes cfDNA fragments across the whole genome, which has advantages over other NIPT methodologies, including targeted sequencing and array-based tests.

All of this data is then compiled onto our easy to read report, and available to the provider in real time via our online portal.

Limitations: Noninvasive prenatal testing (NIPT) based on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic. False positive and false negative results do occur. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or sub chromosomal abnormality. This test does not screen for polyploidy (eg, triploidy), birth defects such as open neural tube defects, single gene disorders, or other conditions, such as autism. 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 (confined placental mosaicism, CPM) or the mother that may or may not have clinical significance.