Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

Autor:	Antonella Cima, Maria Antonietta Barone, Antonella Viola, Alvaro Mesoraca, Davide Sparacino, Anthony Cesta, Katia Margiotti, Claudio Dello Russo, Claudio Giorlandino
Rok vydání:	2020
Předmět:	Adult medicine.medical_specialty Fetal dna Cell-free fetal DNA (cffDNA) lcsh:Medicine Aneuploidy Sex chromosome aneuploidies (SCAs) General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Young Adult 0302 clinical medicine Pregnancy Prenatal Diagnosis Medicine Humans lcsh:Science (General) lcsh:QH301-705.5 Sex Chromosome Aberrations Retrospective Studies Fetus 030219 obstetrics & reproductive medicine Autosome business.industry Obstetrics lcsh:R Chromosome Karyotype General Medicine Middle Aged medicine.disease Research Note lcsh:Biology (General) Cell-free fetal DNA Italy 030220 oncology & carcinogenesis Karyotyping Next-generation sequencing Test performance Female business Cell-Free Nucleic Acids NIPT lcsh:Q1-390
Zdroj:	BMC Research Notes BMC Research Notes, Vol 13, Iss 1, Pp 1-4 (2020)
ISSN:	1756-0500
Popis:	Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. Results NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47, XXX aneuploidy, 23.5% (4/17) were positive for 47, XXY aneuploidy, and 5.9% (1/17) were positive for 47, XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb72d363a7d2445e0c181970da7526fc https://pubmed.ncbi.nlm.nih.gov/32188487 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.