Increase Fertility through IVF Genetic Testing​

PregaSight- NIPT

DNA Xperts is dedicated to helping patients start a healthy family and is proud to offer the most accurate genetic testing in the Prenatal and IVF field.

Our Services

PregaSight -Non-Invasive Prenatal Test

PregaSight  is an advanced non-invasive prenatal screening test (NIPT) used to determine chromosomal status of the unborn baby during pregnancy. The test can be performed as early as 10 weeks into pregnancy to screen for the chromosomal abnormalities. The test is done from blood drawn from the mother and is completely safe for the mother and the baby. The American Congress of Obstetricians and Gynecologists (ACOG) and other professional societies have recommended NIPT as an option for all pregnant women, regardless of age or risk.

How does it work

About the Test

PregaSight NIPT  is a non-invasive prenatal test that analyzes cell-free DNA (cfDNA) from maternal blood to check for chromosomal abnormalities (aneuploidy) in the fetus. cfDNA are fragments of DNA that circulate in the mother’s bloodstream; a percentage of cfDNA originating from the fetus can be found in the pregnant mother’s blood.

cfDNA may be obtained from the mother’s blood and used to screen for certain chromosomal abnormalities as early as 10 weeks into pregnancy,

Each chromosome has segments that are unique to that chromosome, enabling scientists to link or map sequences of DNA to specific chromosomes. NIPT works by sequencing and then measuring the amount of cfDNA that comes from each chromosome. Higher or lower levels of cfDNA mapping back to a particular chromosome may indicate aneuploidy.

Results You Can Trust

Test failures in an NIPT result is essentially an inconclusive result. This can be frustrating for many families and prompts some patients to pursue invasive follow-up procedures in search of a definitive result.

PreSight NIPT helps you avoid this stress by using next generation DNA  sequencing to bring you the lowest rate of test failure and results you can trust.

Learn more about cell free DNA testing from the Society of Maternal-Fetal Medicine.

 

Conditions

PregaSight NIPT Panels

PregaSight can be performed as soon as 10 weeks into pregnancy to evaluate the health of the developing fetus. The test screens for chromosomal abnormalities (aneuploidy) which can be associated with severe syndromes. Our NIPT panels use the latest sequencing technology to deliver extremely accurate results. Learn more about our two panels below.

PregaSight Central

Screens for the 3 most common aneuploidies:

  • Trisomy 21 (Down syndrome)
    • Intellectual disability, distinct facial features, and muscle weakness during infancy.
  • Trisomy 18 (Edwards syndrome)
    • Intrauterine growth retardation, small abnormally shaped head, and other birth defects.
  • Trisomy 13 (Patau syndrome)
    • Severe intellectual disability and a variety of physical defects affecting many organs.

PregaSight Extended

Screens all 24 chromosomes for aneuploidy plus clinically relevant microdeletions. These include:

  • Trisomy 13, 18, and 21
  • Sex chromosome aneuploidies
    • Monosomy X (Turner syndrome)
    • Trisomy X (Triple X syndrome)
    • XXY (Klinefelter sydrome)
    • XYY syndrome
  • Microdeletions(upon request)
    • 3 deletion (Wolf-Hirschhorn syndrome)
    • 5p deletion (Cri-du-chat syndrome)
    • 2 (Prader-Willi syndrome/ Angelman syndrome)
    • 2 deletion (DiGeorge syndrome)
Next Steps

Understanding Your Results

Your results are released to your doctor under strict confidentiality. Results for each chromosome tested are reported as either:

  • Positive: Aneuploidy Detected
  • Negative: No Aneuploidy Detected
 

PregaSight is a screening test; results do not stand alone as a diagnosis. Genetic counselling and diagnostic confirmation are necessary prior to making any irreversible pregnancy decision.

In a small percentage of cases, results may be inconclusive. Studies have shown these women may be at increased risk for aneuploidy and should seek counselling about further diagnostic testing.

Project Design/Advice Assistance

Our PregaSight services are performed by a group of specially trained and experienced scientists in a streamlined workflow under the supervision of a qualified clinician. Please contact our technical support or genetic counselling team with details of your requirement or any questions you many have.