{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:48:53Z","timestamp":1788821333584,"version":"build-2803163510"},"reference-count":68,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.<\/jats:p>","DOI":"10.3390\/medicina58010079","type":"journal-article","created":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T01:14:02Z","timestamp":1641518042000},"page":"79","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population"],"prefix":"10.3390","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0111-6606","authenticated-orcid":false,"given":"Cristina","family":"Gug","sequence":"first","affiliation":[{"name":"Department of Microscopic Morphology, \u201cVictor Babe\u015f\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6353-7698","authenticated-orcid":false,"given":"Ioana","family":"Mozos","sequence":"additional","affiliation":[{"name":"Department of Functional Sciences, Discipline of Pathophysiology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300173 Timisoara, Romania"},{"name":"Center for Translational Research and Systems Medicine, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300173 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Ratiu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology II, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Obstetrics-Gynecology Clinic IV, Municipal Emergency Clinical Hospital, 300231 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9630-4727","authenticated-orcid":false,"given":"Anca","family":"Tudor","sequence":"additional","affiliation":[{"name":"Department of Functional Sciences, Discipline of Medical Informatics and Biostatistics, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-4461","authenticated-orcid":false,"given":"Lavinia","family":"Caba","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miruna","family":"Gug","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cVictor Babe\u015f\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Cojocariu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cVictor Babe\u015f\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7158-2579","authenticated-orcid":false,"given":"Cristian","family":"Furau","sequence":"additional","affiliation":[{"name":"Life Sciences Department, Faculty of Medicine, \u201cVasile Goldis\u201c Western University of Arad, 310414 Arad, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheorghe","family":"Furau","sequence":"additional","affiliation":[{"name":"General Medicine Department, Faculty of Medicine, \u201cVasile Goldis\u201c Western University of Arad, 310414 Arad, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7599-6023","authenticated-orcid":false,"given":"Monica Adriana","family":"Vaida","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorina","family":"Stoicanescu","sequence":"additional","affiliation":[{"name":"Department of Microscopic Morphology, \u201cVictor Babe\u015f\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e674","DOI":"10.1002\/mgg3.674","article-title":"Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing","volume":"7","author":"Yu","year":"2019","journal-title":"Mol. 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