Clinical utility of expanded non‐invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly

Abstract

What are the novel findings of this work?Commonly used non-invasive prenatal screening (NIPS) for chromosomes 13, 18, 21, X and Y (i.e. 5-NIPS) is associated with a substantial residual risk of clinically significant findings on chromosomal microarray analysis, and the added value of 5-NIPS expanded for common microdeletions and genome-wide NIPS is low. What are the clinical implications of this work?These findings should assist healthcare practitioners in guiding couples towards informed decision-making regarding the choice between prenatal invasive testing and NIPS.

A good screening test: not just high sensitivity

“…Recently, Maya et al 5 . evaluated the theoretical added value of two types of expanded NIPS compared with the traditional 5‐NIPS, which targets chromosomes 13, 18, 21, X and Y, and chromosomal microarray analysis (CMA) in 8605 pregnancies without major structural anomalies.…”

A good screening test: benefits and limitations

“…We examined the prevalence of the three common trisomies, sex chromosomal aberrations, common microdeletions and copy-number variants (CNVs) sized over 5 Mb in the cohort of 8605 pregnancies without sonographic major structural anomalies (mean maternal age of 36.2 ± 3.9 years) 1 . We showed that the added value of expanded NIPS compared with 5-NIPS was very low, estimated to be about 0.035% for NIPS expanded for common microdeletions and about 0.14% for genome-wide NIPS.…”

“…Our aim was to facilitate reproductive autonomy and informed decision-making, and we agree with the remarks of Lei et al about the importance of patient education and pre-and post-test genetic counseling services. I. Maya 1,2 , L. Salzer Sheelo 1 , L. Basel-Salmon 1,2,3,4 and L. Sagi-Dain…”

“…We thank Lei et al . for their commentary on our manuscript 1 and for raising interesting and important points regarding the utility of non‐invasive prenatal screening (NIPS) vs invasive testing.…”

Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans

“…For genome-wide CNV screening, many scholars believed that extended NIPS had limited clinical utility, uncertainties regarding positive predictive value (PPV) and negative predictive value (NPV) and the lack of clinical validation of routine use [ 2 , 20 ]. Meanwhile, there is currently insufficient evidence to support the benefits of NIPS screening for rare autosomal trisomies (RATs).…”