Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.

Autor:	Mossfield T; Genea, Sydney, NSW, Australia., Soster E; Labcorp Women's Health and Genetics, Laboratory Corporation of America, San Diego, CA, United States., Menezes M; Monash IVF Genetics, Monash IVF Group, Richmond, VIC, Australia., Agenbag G; Next Biosciences, Johannesburg, South Africa., Dubois ML; Faculty of Medicine, Laval University, Quebec City, QC, Canada., Gekas J; CHU de Quebec Research and Mother and Child Center, Department of Medical Genetics, University Hospital of Quebec, Laval University, Quebec City, QC, Canada., Hardy T; Monash IVF Genetics, Monash IVF Group, Richmond, VIC, Australia., Jurkowska M; Genomed SA, Warsaw, Poland., Kleinfinger P; Laboratory CERBA, Saint-Ouen-l'Aumône, France., Loggenberg K; Next Biosciences, Johannesburg, South Africa., Marchili P; Veragen, Buenos Aires, Argentina., Sirica R; AMES, Centro Polidiagnostico Strumentale, Srl, Naples, Italy.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2022 Aug 29; Vol. 13, pp. 975987. Date of Electronic Publication: 2022 Aug 29 (Print Publication: 2022).
DOI:	10.3389/fgene.2022.975987
Abstrakt:	Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen for a wide variety of additional anomalies, including rare autosomal aneuploidies (RAAs) and copy number variants. Here, we describe a multi-cohort, global retrospective study that looked at the clinical outcomes of cases with a high-risk cfDNA screening result for a RAA. Our study cohort included a total of 109 cases from five different sites, with diagnostic outcome information available for 68% (74/109) of patients. Based on confirmatory diagnostic testing, we found a concordance rate of 20.3% for presence of a RAA (15/74) in our study population. Pregnancy outcome was also available for 77% (84/109) of cases in our cohort. Many of the patients experienced adverse pregnancy outcomes, including intrauterine fetal demise, fetal growth restriction, and preterm birth. These adverse outcomes were observed both in patients with fetal or placental confirmation of the presence of a RAA, as well as patients that did not undergo fetal and/or placental diagnostic testing. In addition, we have proposed some suggestions for pregnancy management and counseling considerations for situations where a RAA is noted on a cfDNA screen. In conclusion, our study has shown that genome-wide cfDNA screening for the presence of rare autosomal aneuploidies can be beneficial for both patients and their healthcare practitioners. This can provide a possible explanation for an adverse pregnancy outcome or result in a change in pregnancy management, such as increased monitoring for adverse outcomes. Competing Interests: TM is an employee of Genea and has been a paid speaker for Illumina. ES is an employee of Laboratory Corporation of America with option to hold stock and has also been a paid speaker for Illumina. MM and TH are employees of Monash IVF Group. GA and KL are employed by Next Biosciences. JG previously received a research grant from Illumina, Inc. MJ is employed by Genomed SA. PK is employed by Laboratory CERBA. PM is employed by Veragen. RS is employed by AMES, Centro Polidiagnostico Strumentale, Srl. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Mossfield, Soster, Menezes, Agenbag, Dubois, Gekas, Hardy, Jurkowska, Kleinfinger, Loggenberg, Marchili and Sirica.)
Databáze:	MEDLINE
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