Fetal Chromosomal Aneuploidy and Microdeletions/ Microduplications Detection (NIPT-Plus) CapitalBio

Features of Fetal Chrmoml Aneuploidy and Microdeletions/ Microduplications Detection (NIPT-Plus)

• NIPT-Plus detection program is also available in CapitalBio Medical Lab: users can submit DNA samples and receive a report within 21 days Any microdeletions or microduplications found are immediately linked to the four most popular international chromosomal abnormality databases

• Built-in, non-invasive prenatal data analysis system with easy report printing for streamlined clinical workflow

What Does Fetal Chromosomal Aneuploidy Test For?

CapitalBio is at the forefront of prenatal diagnostics, offering the Fetal Chromosomal Aneuploidy Test, a pivotal advancement in non-invasive prenatal testing (NIPT). This sophisticated test is designed to detect fetal chromosomal aneuploidies, which are abnormalities in the number of chromosomes that can lead to significant developmental and health issues in newborns. The primary focus of the Fetal Chromosomal Aneuploidy Test is to identify conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13), among others.

Utilizing cutting-edge genetic sequencing technologies, CapitalBio’s test analyzes small fragments of fetal DNA circulating in the maternal bloodstream. This method not only ensures high accuracy but also guarantees safety for both the mother and the fetus, as it eliminates the risks associated with invasive diagnostic procedures. The Fetal Chromosomal Aneuploidy Test represents a significant leap forward in prenatal care, providing expectant parents with early, reliable information about the genetic health of their unborn child. By integrating this test into prenatal screening protocols, healthcare providers can offer more informed counseling and management options to families, thereby enhancing the standard of prenatal care. CapitalBio is committed to advancing maternal and fetal health through innovation, precision, and reliability, making the journey to parenthood a more informed and reassuring experience.

Aneuploidy Screening for Fetal Chromosomal Abnormalities

Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell, which can lead to various genetic conditions. Typically, humans have 46 chromosomes, but aneuploidy occurs when there is a deviation from this number, leading to genetic disorders due to the presence of extra or missing chromosomes. This condition can arise during cell division when chromosomes do not separate properly in the developing embryo. Aneuploidy is the underlying cause of several genetic disorders, with Down syndrome being the most prevalent, characterized by an extra copy of chromosome 21.

• Is Aneuploidy Screening A Test?

Aneuploidy screening is not a diagnostic test but rather a preliminary assessment that evaluates the risk of a fetus developing genetic disorders. It is an essential step in prenatal care, providing expectant mothers and healthcare providers with valuable information on the potential for chromosomal abnormalities. If the screening indicates a moderate or high risk of genetic issues, further diagnostic testing is recommended to confirm the presence of any conditions.

• Do All Aneuploidy Screens Assess The Same Things?

Not all aneuploidy screenings are created equal. Traditional screening methods primarily focus on assessing the risk for common trisomies, such as 21 (Down syndrome), 18 (Edwards syndrome), and sometimes 13 (Patau syndrome). However, advancements in genetic testing, such as the Non-Invasive Prenatal Testing (NIPT) offered by CapitalBio, have broadened the scope of detectable conditions. NIPT can screen for the most common autosomal aneuploidies and certain sex chromosome anomalies (such as Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and XYY syndrome). Additionally, it provides the option to assess the fetal sex (XX or XY) and can even screen for rarer autosomal trisomies, microdeletion syndromes, and whole-genome copy number variations (CNV), offering a comprehensive overview of the fetus’s genetic health.

CapitalBio’s commitment to leveraging cutting-edge technology in NIPT ensures that expectant parents have access to the most accurate and comprehensive aneuploidy screening available. This approach not only enhances prenatal care but also empowers families with the knowledge needed to prepare for the health needs of their future child.

• Women who are pregnant and whose fetal chromosomal aneuploidy risk value on a serological screen is between the high-risk cut-off value and 1/1000;

• Those who cannot undergo interventional prenatal diagnosis due to certain conditions (such as a history of abortion, a current infection with a chronic pathogen, a blood type other than Rh-positive, etc.);

• Patients who consult after 20+6 weeks of pregnancy have missed the optimal window for serological screening, but still need an assessment of their risk for trisomy 21, trisomy 18, and trisomy 13.