EarlyReveal NIPT Trisomy Test

This is the most common chromosomal abnormality, caused by an extra chromosome 21. It results in intellectual disabilities and medical challenges. Early diagnosis through NIPT enables better planning for medical care and educational support. Approximately 1 in 700 pregnancies is affected by Down syndrome.

Characterized by severe developmental delays, Edwards syndrome results from an extra chromosome 18. Most pregnancies with Trisomy 18 end in miscarriage, and only about 10% of live-born infants survive their first year. NIPT allows early detection to help families prepare for the outcome.

This condition, caused by an extra chromosome 13, leads to severe intellectual and physical disabilities. Most pregnancies with Patau syndrome miscarry, and live-born babies often face multiple life-threatening health issues. Detection via NIPT offers families valuable information early in the pregnancy.

Occurring in females, Turner syndrome results from a missing X chromosome and can lead to short stature, heart defects, and infertility. Early detection enables better management of medical needs throughout life.

Affecting males with an extra X chromosome, this condition can lead to learning difficulties, infertility, and specific physical traits like taller stature. NIPT helps in identifying this early, ensuring appropriate interventions and care.

Females with three X chromosomes may be taller than average and could face mild learning or behavioral challenges. Early detection through NIPT allows parents and doctors to monitor potential developmental needs.

Males with an extra Y chromosome often develop typically, but some may have an increased risk of learning or behavioral difficulties. NIPT provides early information, allowing parents and doctors to plan for any needed support.

This deletion on chromosome 1 leads to intellectual disabilities, heart defects, and various other health issues. NIPT helps in identifying this condition early, enabling a proactive approach to healthcare.

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a deletion of a portion of the short arm (p) of chromosome 4. This condition is characterized by distinctive facial features, intellectual disabilities, growth delays, and seizures. Other common issues include heart defects, skeletal abnormalities, and feeding difficulties. Early diagnosis is important for managing symptoms and providing supportive therapies. WHS occurs in approximately 1 in 50,000 births.

Characterized by a distinctive cat-like cry in infancy, this syndrome involves a deletion on chromosome 5, leading to intellectual disabilities and developmental delays. Early diagnosis allows for timely interventions.

Caused by the loss of specific genes on chromosome 15, this condition leads to muscle weakness, feeding difficulties in infancy, and excessive hunger in childhood, resulting in obesity.
A rare genetic disorder that leads to severe intellectual disability, developmental delays, and a distinctive happy demeanor.
NIPT provides early detection, allowing families to address the condition from birth.

Also known as DiGeorge syndrome, this genetic condition affects 1 in 2,000 pregnancies. It leads to heart defects, immune deficiencies, and developmental delays. Early diagnosis through NIPT allows families to prepare for specialized medical care and developmental interventions.

Trisomy analysis checks for the presence of an extra chromosome in any of the 23 pairs of chromosomes, which can result in various conditions. While trisomies 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome) are more common, trisomies can occur on any chromosome, potentially leading to developmental issues or miscarriage. NIPT can screen for these anomalies early in pregnancy, offering insights into the baby’s chromosomal health.

What is a noninvasive prenatal screening?

Noninvasive prenatal screening (NIPS), also called non-invasive prenatal testing (NIPT), analyzes cell-free fetal DNA from a simple maternal blood test. Unlike amniocentesis—which involves sampling amniotic fluid—NIPS carries minimal risk. It can detect conditions such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13) with over 99% sensitivity and specificity. While it offers early insights into fetal health, NIPS is a screening test, so any high-risk result should be confirmed through a diagnostic procedure.

What is the EarlyReveal™ non-invasive prenatal screen?

EarlyReveal NIPT is a non-invasive prenatal test (NIPT) that screens for three of the most common chromosomal conditions seen in pregnancies: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). This screening test requires a simple maternal blood draw, making it different from more invasive diagnostics tests like amniocentesis or other procedures involving amniotic fluid. Because the screening relies on cell-free fetal DNA in the maternal bloodstream, it offers an excellent balance of safety and accuracy for pregnant women seeking early prenatal genetic testing.

How early can I use the EarlyReveal™ NIPT test kit?

The EarlyReveal non-invasive NIPT test kit can be used as early as 10 weeks into pregnancy, starting from the first day of your last menstrual period. This timing allows pregnant women and prenatal care providers to identify potential genetic issues sooner than traditional maternal serum screening or other prenatal tests typically conducted later in pregnancy. Knowing this information early can help guide prenatal care decisions and provide reassurance or next steps for a pregnant woman’s journey.

What are sex chromosome aneuploidies?

Sex chromosome aneuploidies occur when a person has extra or missing sex chromosomes. Females typically have XX, while males have XY. In some instances, a pregnant person’s fetus might develop with one X (Monosomy X, also known as Turner syndrome) or multiple copies of X or Y (e.g., XXY in Klinefelter syndrome, XYY in Jacobs syndrome, or Trisomy X). Babies with these conditions often appear typical at birth, as genitalia typically do not reveal the aneuploidy. However, as they grow, they may experience variations in height, puberty onset, or fertility. While significant intellectual disability is not common, certain learning challenges can arise. Each aneuploidy has distinct features, but EarlyReveal’s non-invasive prenatal test (nipt) can screen for these conditions so that families and healthcare providers can plan appropriate support.

Can I order the EarlyReveal™ Non-Invasive Prenatal Screen for myself, or does it need to be ordered by my doctor?

You can order the EarlyReveal NIPS directly from our website. However, since this form of prenatal genetic testing is a medical screening test, a prescription from your physician is required prior to collecting your blood sample. If you prefer, your prenatal care provider can also order the EarlyReveal™ NIPT on your behalf. If they don’t currently have an account, they can contact us at info@earlyreveal.com to set one up. This ensures that pregnant individuals have access to reliable screening tests that integrate smoothly into their prenatal care plan.

When will I receive my results?

Once the lab receives your maternal blood sample, you can typically expect to see results from your EarlyReveal NIPT within 3-5 business days. You’ll receive an email notification once your screening test results are ready, and both you and your physician will have access to the findings. If a high-risk or positive test result is identified, confirmatory diagnostic testing (such as a PCR test for specific genetic markers or amniocentesis) may be recommended to make a definitive prenatal diagnosis.

How accurate are the results of EarlyReveal™ NIPS tests?

The EarlyReveal NIPT screens for trisomies 21, 18, and 13 with over 99% sensitivity and specificity, making it an excellent option for prenatal screening and genetic screening. While this non-invasive prenatal screening offers highly accurate detection rates, it remains a screening test and not a diagnostic test. In the event of a positive test or screen-positive result, confirmatory diagnostic procedures, such as amniocentesis, should be considered to verify the findings.