Traditional aneuploidy screening consists of maternal serum screening and ultrasound. These methods have an overall false positive rate of 5%.1,2 Follow-up diagnostic tests for a positive screening result may include an invasive procedure such as chorionic villus sampling or amniocentesis for karyotyping. These follow-up tests are more invasive than the initial screens and have associated risks.
As compared to traditional serum screening for common aneuploidies, NIPT has consistently demonstrated low false positive rates (higher specificity), and higher detection rate (higher sensitivity).3-5 In addition, NIPT can lead to 89% fewer unnecessary invasive tests as compared to traditional serum screening.6
Noninvasive prenatal testing (NIPT) can be performed after just 10 weeks of gestation and requires only one maternal blood draw. Traditional screening is typically offered at 11—13 weeks, at the earliest; it involves a blood draw and ultrasound in the first trimester.6-7 The most accurate traditional serum screen methods (integrated or sequential screening) also include an additional blood draw in the second trimester, requiring multiple doctor visits.
Traditional aneuploidy screening typically provides a risk assessment for trisomies 21, 18, and sometimes, trisomy 13.
NIPT screens for the common autosomal aneuploidies (trisomies 21, 18, and 13). It can also screen for certain sex chromosome conditions (XO, XXX, XXY, and XYY) and determine the fetal sex (XX or XY).
Some NIPT blood tests include options to screen for other aneuploidies, such as rare autosomal trisomies, microdeletion syndromes, and whole-genome copy number variation (CNV).
Aneuploidy screening with NIPT can be easy to implement in the lab. 5524澳门24小时线路 offers the VeriSeq NIPT Solution*, a next-generation sequencing (NGS)-based approach to NIPT. The solution provides software to guide the entire workflow from plasma isolation to library pooling, sample and batch tracking, and sample preparation kits are designed for use with an automated liquid handling instrument.
With the VeriSeq NIPT Solution, a single lab technician can prepare up to 96 maternal samples for sequencing in less than 8 hours, with only ~2 hours of hands-on time. The flexibility to run 24, 48, or 96 samples permits small sample batches, reducing regent costs and allowing your lab to scale up over time.
* For In Vitro Diagnostic Use. Contact an 5524澳门24小时线路 representative for regional availability.