Diagnosis neural tube

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. The cell-free fetal DNA testing method offers greater accuracy than triple tests and quad tests, since the latter analyse maternal hormone levels rather than DNA markers in the blood. While neural tube diagnosis must be carried out by ultrasound and AFP tests, healthcare providers can prescribe non-invasive genetic screenings for most other anomalies from the first trimester. Neural tube diagnosis can subsequently be offered to at-risk mothers following this initial analysis. Overall, risks of fetal loss are greatly reduced.

The NIPT kit developed by Eurofins Biomnis presents zero risk to the fetus and allows healthcare providers to offer patients early screening of trisomies 13, 18 and 21 during the first trimester. Screening andDiagnosis of neural tube defects can then be carried out during the second trimester. The NIPT procedure offers greater sensitivity and lower false-positive rates when compared to triple marker tests. Remarkably sensitive and specific, it is a screening option for women at heightened risk of fetal aneuploidies. If one or more pathologies is suspected, amniocentesis may be used to confirm the presence of fetal trisomy. diagnosis of neural tube defects is suspected through ultrasound and potentially AFP blood tests.

Triple screen tests to detect potential fetal anomalies and neural tube defects during pregnancy are generally carried outfrom the second trimester. However, prescribing an NIPT for the prenatal screening of birth defectsoffers reliable initial risk assessment for disorders including Down Syndrome and Patau Syndrome. With detection rates exceeding 99%, NIPT screening is generally recommended for expectant mothers with risks of fetal aneuploidies greater than 1 in 1,000 according to serum markers. The diagnosis of neural tube defects during pregnancy is then separately confirmed to screen for disorders such as spina bifida.Â? Eurofins Biomnis follows the international recommendations of the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM).