Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results
نویسندگان
چکیده
The objective — To assess the effectiveness of including NIPT in structure prenatal diagnostics Moscow. Material and Methods Totally 5,181 pregnancies undergoing screening for fetal trisomy using during period from 01.04.2020 to 30.09.2020 Russia. According results biochemical blood test, patients were divided into two groups: group high risk (cut-off ≥1:100) (n=208) intermediate 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) offered an invasive procedure, followed by genetic analysis (cytogenetic or molecular karyotyping). Results Among analysed samples, 117 (2.3%) had a following common chromosome abnormalities NIPT: 21 50 cases, 18 17 13 5 sex aneuploidy (SCA) 22 cases. Additionally, rare autosomal trisomies and/or subchromosomal arrangements revealed 23 We found associations between cfDNA concentration aneuploidies (particularly 21) low fraction (FF) body mass index (BMI) as well maternal weight. was associated with term gestation. Conclusion technological resources that are based on testing detecting abnormal numbers other chromosomal anomalies is reduce rates false positive results. Therefore, should be more widely used first-line method.
منابع مشابه
The Evolution of Prenatal Diagnosis from Invasive Procedures to Non-invasive Prenatal Testing (NIPT)
Yuval Yaron1,2,*, and Rachel Michaelson-Cohen3,4 1Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2Sackler Faculty of Medicine, Tel Aviv University, Israel 3Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Israel 4Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of...
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ژورنال
عنوان ژورنال: Russian Open Medical Journal
سال: 2021
ISSN: ['2304-3415']
DOI: https://doi.org/10.15275/rusomj.2021.0110