Cell-free DNA for the detection of fetal aneuploidy

Goldwaser, Tamar; Klugman, Susan

doi:10.1016/j.fertnstert.2017.12.019

Cited by 20 publications

(19 citation statements)

References 49 publications

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“…Down syndrome trisomy is detected most frequently. However, NIPT can be used to screen for other common chromosomal aneuploidies, such as trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) or single-gene mutations [2,16].…”

Section: Introductionmentioning

confidence: 99%

Current Trends in Cell-Free DNA Applications. Scoping Review of Clinical Trials

Stawski

Stec-Martyna

Chmielecki

et al. 2021

Biology

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We aimed to summarize the current knowledge about the trends in cfDNA application based on the analysis of clinical trials registered until April 2021. International Clinical Trials Registry Platform (ICTRP) and Clinicaltrials.gov were searched with the keywords: “cf-DNA”; “Circulating DNA”; “Deoxyribonucleic Acid”; and “Cell-Free Deoxyribonucleic Acid”. Of 605 clinical trials, we excluded 237 trials, and 368 remaining ones were subject to further analysis. The subject, number of participants, and study design were analyzed. Our scoping review revealed three main trends: oncology (n = 255), non-invasive prenatal diagnostic (n = 48), and organ transplantation (n = 41), and many (n = 22) less common such as sepsis, sport, or autoimmune diseases in 368 clinical trials. Clinical trials are translating theory into clinical care. However, the diagnostic value of cfDNA remains controversial, and diagnostic accuracy still needs to be evaluated. Thus, further studies are necessary until cfDNA turns into a standard in clinical practice.

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Section: Introductionmentioning

confidence: 99%

Current Trends in Cell-Free DNA Applications. Scoping Review of Clinical Trials

Stawski

Stec-Martyna

Chmielecki

et al. 2021

Biology

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“…Recently, some methods such as fetal DNA screening in the maternal blood have been developed and they are recommended to be used to detect fetal chromosomal anomalies. However, this cell free DNA testing (NIPT) can only be used as a screening test (37), and invasive tests are required for confirmation of the result (38). This is the first study analyzing the data of Van and nearby cities on the amniocentesis and CVS results and we thought that it will shed light on future studies.…”

Section: Discussionmentioning

confidence: 94%

Van ve Çevresinde Bulunan Türkiye’nin Doğu İllerindeki Prenatal Genetik Test Sonuçları

Göktaş

Ayaz

2020

Düzce Tıp Fakültesi Dergisi

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“…It is also the first study conducted in the Polish population concerning both innovative techniques (UBC and genetic testing) that are important for pregnant women and wider society. Genetic testing during pregnancy with the use of cell-free fetal DNA is recommended in clinical obstetric guidelines worldwide [ 11 , 12 , 13 , 14 ]. Cell-free fetal DNA represents extracellular DNA which originates from trophoblastic cells that contain the entire fetal genotype.…”

Section: Discussionmentioning

confidence: 99%

Changes in Knowledge about Umbilical Cord Blood Banking and Genetic Tests among Pregnant Women from Polish Urban and Rural Areas between 2010–2012 and 2017

Szubert

Ilowiecka

Wilczyński

et al. 2020

IJERPH

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The aim of this study was to evaluate knowledge of umbilical cord blood (UBC) banking and prenatal genetic diagnosis among pregnant women from rural and urban areas, and how this knowledge changed within a five-year period. A survey by questionnaire was conducted between 2010 and 2012, and in 2017 in public hospitals; the study population comprised 6128 women, with 2797 patients from the years 2010–2012 and 3331 from the year 2017. 41% of the studied population declared that they were living in rural areas. In the 2010–2012 period, fewer women from rural areas knew about UBC banking. In 2017 that same relative difference in knowledge persisted, but the percentage of women who now knew about this procedure rose significantly in both studied groups. Prenatal diagnosis was more familiar for urban inhabitants both in 2010 and 2017 but as with the UBC data, a trend of growing awareness was also seen in pregnant women from rural areas. Knowledge of new techniques such as UBC banking and genetic tests has grown among pregnant women during the time frame of our study, but there is still a need to emphasize the benefits of these two possibilities to pregnant women, especially among rural inhabitants.

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Cell-free DNA for the detection of fetal aneuploidy

Cited by 20 publications

References 49 publications

Current Trends in Cell-Free DNA Applications. Scoping Review of Clinical Trials

Current Trends in Cell-Free DNA Applications. Scoping Review of Clinical Trials

Van ve Çevresinde Bulunan Türkiye’nin Doğu İllerindeki Prenatal Genetik Test Sonuçları

Changes in Knowledge about Umbilical Cord Blood Banking and Genetic Tests among Pregnant Women from Polish Urban and Rural Areas between 2010–2012 and 2017

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