Why NIPT?

Why NIPT ?

Cell-free DNA (cfDNA)-based NIPT has been recognized as the most sensitive screening option for trisomy 21, trisomy 18 and trisomy 13.1

 

 

NIPT was previously offered only to women over 35 or with a family history of chromosomal conditions. However, professional societies such as The American College of Medical Genetics and Genomics (ACMG) now recommend that doctors inform all pregnant women regardless of age or risk about the fact that cfDNA-based NIPT is the most sensitive screening option for trisomy 21, trisomy 18 and trisomy 13.1 The International Society for Prenatal Diagnosis (ISPD) considers NIPT as appropriate to be offered to all pregnant women as a primary screening test. 2

 

Because of its superiority compared to first trimester screening  in terms of its high detection rate for trisomies, reduction in false positive results and the concomitant reduction in the number of invasive tests that need to be performed, NIPT is increasingly being reimbursed by payers.3,4

References

  1. Gregg et al. Genetics in Medicine 2016 Oct; 18(10):1056-65.

  2. Benn et al. Prenat Diagn. 2015; 35: 725–734.

  3. Kosteno E et.al Fetal Diagn Ther. 2018 Aug 21:1-11

  4. Neyt et al. BMJ Open. 2014; 4(11): e005922.