Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center

Abstract

At present, NIPT is chosen mainly for reassurance by patients not considered to be at high risk. In the high-risk group, NIPT can be offered if the ultrasound examination is normal and the risk is high due to maternal age or serum screening alone. The rate of invasive testing was not reduced in this selected population.

What is prenatal screening and why to do it?

“…The expansion and commercial availability of cffDNA has led to rapid uptake of cffDNA as the primary screening approach for aneuploidy among both high and low risk women. 46,47 Currently available cffDNA screening is focused on trisomies 21, 18, and 13, and although these compromise 70% of the aneuploidies commonly detected by prenatal diagnosis, maternal serum screening, nuchal translucency, and ultrasound detect many additional abnormalities. 47 Women at high risk of aneuploidy often choose cffDNA screening over traditional screening methods.…”

Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study

“…NIPT is selected mainly for reassurance by low-risk pregnant women in the clinical setting (15). Studies have shown that introduction of NIPT as a second-tier screen was not associated with a decrease of invasive testing in the high-risk population (16).…”

Rethinking second‐trimester Down‐syndrome screening in the cell‐free DNA era

“…These show no consistent overwhelming preference for one or the other test. However, apart from two studies, the cfDNA test was either self‐paid (in Hong Kong and Germany) or, in the case of the California Prenatal Screening Program, covered by MediCal insurance for only about one‐third of those screened. In one of the two studies in which the cfDNA test was free of charge, the choice was confounded by the inclusion of chromosomal microarray (CMA) analysis with invasive prenatal diagnosis.…”

“…Tables 1 and 2 make the simplifying assumption of complete uptake of screening, invasive prenatal diagnosis and cfDNA testing. Seven studies have been published in which women with positive Down-syndrome screening results were offered the choice between invasive prenatal diagnosis and cfDNA testing [17][18][19][20][21][22][23] . These show no consistent overwhelming preference for one or the other test.…”