Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies

Abstract

Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In this study, we looked at the performance of genome-wide NIPT in a large cohort consisting of 1244 twin pregnancy samples collected over a two-year period in a single laboratory in Italy. All samples underwent an NIPS for common trisomies, with 61.5% of study participants choosing to undergo genome-wide NIPS for additional fetal anomalies (namely, rare autosomal aneuploidies and CNVs). There were nine initial no-call results, all of which were resolved upon retest. Based on our NIPS results, 17 samples were at high risk for trisomy 21, one for trisomy 18, six for a rare autosomal aneuploidy, and four for a CNV. Clinical follow-up was available for 27 out of 29 high-risk cases; a sensitivity of 100%, a specificity of 99.9%, and a PPV of 94.4% were noted for trisomy 21. Clinical follow-up was also available for 1110 (96.6%) of the low-risk cases, all of which were true negatives. In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies.

Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies

“…2021. Available online: https://support.illumina.com/downloads/veriseq-nipt-solution-v2-package-insert1000000078751.html ; accessed on 1 December 2022), as previously reported [ 23 , 24 ].…”

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium

“…Genome-wide cfDNA screening can identify chromosomal aneuploidies that may impact a pregnancy beyond trisomies 21, 18, and 13, including rare autosomal aneuploidies (RAAs) and copy number variants. There has been an increasing number of studies detailing their clinical experience with genome-wide cfDNA screening in recent years [ 10 – 26 ]. Several of these studies have also detailed the adverse perinatal complications that can arise in some patients that screen-positive for RAAs or copy number variants following genome-wide cfDNA screening including preeclampsia, fetal growth restriction, intrauterine fetal demise, and preterm birth.…”