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.

EarlyReveal NIPT is a blood-based screening test for pregnant parents. It screens for three of the most common chromosomal conditions seen in pregnancy - Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). EarlyReveal™ NIPT can be performed as early as ten-week gestation through a simple blood collection which can be completed at home or at a partnered clinic.

The EarlyReveal Non-Invasive Prenatal Screen can be performed as early as 10 weeks into your pregnancy, counting from the first day of your last menstrual period. 

Sex chromosome aneuploidy occurs when a person has extra or missing sex chromosomes. Typically, females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, a female with sex chromosome aneuploidy may have one X or three Xs instead of the usual two. A male with this condition might have two Xs and one Y (XXY), or one X and two Ys (XYY), instead of the typical XY pattern.

At birth, babies with sex chromosome aneuploidy usually appear like other girls or boys, as their genitalia do not reveal the condition. As they grow, they may be taller or shorter than average, face puberty-related issues, or experience infertility. While intellectual disability is uncommon, learning challenges like dyslexia can occur. These traits may be subtle and go unnoticed for years. Although individuals with sex chromosome aneuploidies may share some characteristics, each condition comes with unique features.

You can order the EarlyReveal™ NIPT directly through our website. Because the EarlyReveal NIPT is a medical screen, a prescription from your physician is required before collecting your blood. Alternatively, your prenatal care provider can order the EarlyReveal™ NIPT on your behalf directly from EarlyReveal.  If they do not have an account, they can contact us directly at info@earlyreveal.com

Once the lab receives your sample, results are typically available within 3-5 business days. At that time, you’ll get an email notification and the results will be sent to your physician and yourself.

The EarlyReveal NIPT Test screens for trisomies 21, 18, and 13 with >99% sensitivity and specificity.

You can reach us by phone or email weekdays from 9:00 AM - 5:00 PM (EST).

E-mail: info@earlyreveal.com

Phone: 1-888-972-8763