Sex aneuploidy

Non-invasive prenatal testing (NIPT) is an innovative form of genetic screening allowing for early detection of the most common fetal aneuploidies in at-risk pregnant women, including trisomy 13, 18 and 21. According to local regulations, the test can additionally provide optional fetal gender and sex aneuploidy analysis. Although traditional screeningmethods such as amniocentesis are among the most-prescribed prenatal diagnostic procedures, associated risks including fetal loss are a strong source of patient concern. Healthcare providers now have the option of prescribing non-invasive prenatal screening tests and sex aneuploidy tests that offer greater sensitivity and accuracy than triple screen screens. This may lead to improved maternal and child health outcomes.

The prenatal screening kit developed by Eurofins Biomnis presents zero risks and offers to patients the possibility for a fetal sex chromosome aneuploidy test. Moreover, this non-invasive method has greater sensitivity and specificity when compared to serum marker screening, yielding unusual accuracy. Thekit is remarkably sensitive and specific, and is classified as a screening option for women at heightened risk of trisomy 13 (Patau Syndrome), as well as trisomies 18 and 21. Expectant parents in some countries may additionally opt for a sex chromosome aneuploidy test. In the case of a positive result for one or more pathologies, an invasive procedure such as amniocentesis may confirm diagnosis.

Prescribing an NIPT for the prenatal screening of birth defectsoffers reliable initial risk assessment for common abnormalities, including analysis of sex chromosome aneuploidies. With detection rates exceeding 99%, the test is generally recommended for expectant mothers with risks greater than 1 in 1,000 according to serum markers. A positive result indicates a strong suspicion that anomalies relating to one or more genetic conditions are present. Available starting at 10 weeks of pregnancy, the test allows for the analysis of sex chromosome aneuploidies and trisomies from the first trimester. Biomnis follows the international recommendations of the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM).

When it comes to early genetic screening, many patients assume that prenatal screening through fetal DNA must be as complex as invasive procedures such as amniocentesis. However, the kit developed by Eurofins Biomnis is remarkably simple to prescribe and administer, and includes prenatal screening for determining baby gender. Healthcare providers may administer the test themselves, or patients may opt to have the procedure performed by a partner laboratory. With results available in around 7 working days, NIPT by Eurofins Biomnis is a risk-free form ofnon-invasive testing, offering accurate prenatal screening through fetal DNA while eliminating the risk of fetal loss. It may reduce unnecessary invasive sampling by up to 95%.