Background and Test Information
Non-invasive prenatal testing (NIPT) screens for fetal aneuploidy, including the common trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). The latest guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend NIPT to all pregnant women, regardless of maternal age or baseline risk. NIPT can be done via SNP analysis, microarray analysis, Rolling Circle Amplification, and Next-Generation Sequencing (NGS). NGS-based NIPT can be done via targeted sequencing, whole-genome sequencing (WGS), or microarrays.
At Anwa Medical Labs, we offer NIPT by WGS. It is the most sensitive and specific screening test for chromosomal abnormalities. This testing method showcases low false-positive and false-negative rates and maintains a low-test failure rate, minimizing the need for invasive testing procedures. It also yields the most rapid results within days.
Targeted sequencing methods, on the other hand, show reduced performance with higher failure rates. A failed test is an inconclusive result. With growing clinical evidence supporting that failed results are associated with aneuploidy, invasive diagnostic procedures are clinically warranted and may turn out to have been unnecessary. This puts the patient and physician under needless stress. An expanded NIPT assay option includes screening for all rare autosomal aneuploidies including sex chromosome aneuploidies, microdeletion syndromes such as 22q11.2 microdeletion (DiGeorge syndrome), duplications associated with known syndromes, and whole-genome copy number variation, to provide a more comprehensive view of the fetal genome and enable detection of anomalies outside of standard NIPT. However, expanded screening is currently only recommended for clinically deemed high-risk pregnancies.
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Trisomy 21,18 and more