Non-Invasive Prenatal Testing (NIPT) was introduced into clinical practice as a screening test for the most common chromosome abnormalities in 20111 and has since revolutionised prenatal care. Due to its high sensitivity and specificity,2 NIPT is recommended as a first-tier screening test for all pregnancies by many international societies including American College of Obstetricians and Gynecologists (ACOG)3 and the International Society for Prenatal Diagnosis (ISPD)4.
Next Biosciences has collated statistics on all NIPT samples processed in our laboratory between January 2020 and December 2023. In the document below we present some of the most interesting findings from the current data set.
One of the aspects that the team reviewed was NIPT outcome based on referral reason, 5.3% of patients who were referred due to a high risk serum screen result had a high-risk NIPT result. Invasive diagnostic testing (chorionic villus sampling or amniocentesis) , and the associated risk, was avoided for 94,7% of patients in this referral category, which highlights the significant value of NIPT.
Read the full report here.
References:
- Minear MA, Lewis C, Pradhan S, Chandrasekharan S. Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015 Oct;35(10):959-67. doi: 10.1002/pd.4637. Epub 2015 Sep 25. PMID: 26085345; PMCID: PMC5065727.
- Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies. Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24. Erratum in: Genet Med. 2022 Sep;24(9):1992. PMID: 35608568.
- American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883.
- Hui L, Ellis K, Mayen D, Pertile MD, Reimers R, Sun L, Vermeesch J, Vora NL, Chitty LS. Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. Prenat Diagn. 2023 Jun;43(7):814-828. doi: 10.1002/pd.6357. Epub 2023 May 16. PMID: 37076973.