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. 2024 Apr 28;15(5):568.
doi: 10.3390/genes15050568.

Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain

Laia Pedrola Vidal  1 , Mónica Roselló Piera  1 , Carla Martín-Grau  2 , Juan S Rubio Moll  3 , Rosa Gómez Portero  3 , Beatriz Marcos Puig  3 , Jose V Cervera Zamora  1 , Ramiro Quiroga  3 , Carmen Orellana Alonso  1
Affiliations

Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain

Laia Pedrola Vidal et al. Genes (Basel). .

Abstract

Genome-wide prenatal cell-free DNA (cfDNA) screening can be used to screen for a wide range of fetal chromosomal anomalies in pregnant patients. In this study, we describe our clinical experience with a genome-wide cfDNA assay in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and copy-number variations (CNVs) in about 6000 patients over a three-year period at our hospital's Prenatal Diagnostic Unit in Spain. Overall, 204 (3.3%) patients had a high-risk call, which included 76 trisomy 21, 21 trisomy 18, 7 trisomy 13, 29 SCAs, 31 RAAs, 31 CNVs, and 9 cases with multiple anomalies. The diagnostic outcomes were obtained for the high-risk cases when available, allowing for the calculation of positive predictive values (PPVs). Calculated PPVs were 95.9% for trisomy 21, 77.8% for trisomy 18, 66.7% for trisomy 13, 10.7% for RAAs, and 10.7% for CNVs. Pregnancy and birth outcomes were also collected for the majority of RAA and CNV cases. Adverse perinatal outcomes for some of these cases included preeclampsia, fetal growth restriction, preterm birth, reduced birth weight, and major congenital structural abnormalities. In conclusion, our study showed strong performance for genome-wide cfDNA screening in a large cohort of pregnancy patients in Spain.

Keywords: copy-number variations; genome-wide; prenatal cfDNA screening; rare autosomal aneuploidies; trisomy.

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Conflict of interest statement

Pedrola reports receiving open access publication fee and in-kind editorial support from Instituto de Investigación Sanitaria La Fe (IISLAFE) through a grant from Illumina, Inc. The authors declare no other conflicts of interest.

Figures

Figure 1
Figure 1
Study flowchart. cf, cell-free; T, trisomy; SCA, sex chromosome aneuploidy; RAA, rare autosomal aneuploidy; CNV, copy-number variant. a Samples were not processed due to several factors, including samples in a wrong tube (broken or unidentified) and sample clotting. b Samples from patients with exclusion criteria.
Figure 2
Figure 2
Overview of RAA calls by prenatal cfDNA screening. RAA, rare autosomal aneuploidy; cf, cell-free; T, trisomy.
See this image and copyright information in PMC

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