scholarly journals First‐trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure

Author(s):  
Slavyana Galeva ◽  
María del Mar Gil ◽  
Liountmila Konstantinidou ◽  
Ranjit Akolekar ◽  
Kypros H. Nicolaides
2013 ◽  
Vol 39 (11) ◽  
pp. 1495-1499 ◽  
Author(s):  
Cantekin Iskender ◽  
Ebru Tarım ◽  
Tayfun Çok ◽  
Cem Yalcınkaya ◽  
Hakan Kalaycı ◽  
...  

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Malgorzata Ilona Srebniak ◽  
Maarten F. C. M. Knapen ◽  
Marieke Joosten ◽  
Karin E. M. Diderich ◽  
Sander Galjaard ◽  
...  

AbstractMany major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not only the earliest diagnosis of trisomy 21 (the most prevalent chromosome aberration), but also completion of the screening at 12–14 weeks. To ensure proper management and avoid unnecessary anxiety abnormal NIPT different from trisomy 21, 18 and 13 should be referred for genetic counseling.


Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.


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