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BMC Pregnancy and Childbirth, 2022 Background Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to a sample’s fetal to total DNA fraction, known as the fetal fraction (FF).
Sanaz Mousavi +5 more
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Clinical Perspective of Cell-Free DNA Testing for Fetal Aneuploidies [PDF]
Fetal Diagnosis and Therapy, 2014 Cell-free DNA testing in maternal blood provides the most effective method of screening for trisomy 21, with a reported detection rate of 99% and a false positive rate of less than 0.1%. After many years of research, this method is now commercially available and is carried out in an increasing number of patients, and there is an expanding number of ...
Eduard Gratacós, Kypros Nicolaides
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Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (IV)
Taiwanese Journal of Obstetrics & Gynecology, 2010 Prenatal ultrasound is a powerful tool to detect structural abnormalities associated with the fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic markers of trisomy 13 in the first trimester ...
Chih-Ping Chen
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PLoS ONE, 2019 BackgroundMolecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor determining the overall performance of NIPT and
Xiaohan Sun, Jianbo Lu, Xu Ma
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Cell free fetal DNA in the plasma of pregnant women with preeclampsia
Clinical and Experimental Obstetrics & Gynecology, 2015 Insufficient cytotrophoblast invasion to the myometrium is associated with preeclampsia, especially with the early-onset preeclampsia (before 34 gestational weeks). Several investigations have marked changes in the concentration of cell free fetal DNA in the maternal circulation of women with preeclampsia.
M M, Seval +3 more
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Fetal aneuploidy screening with cell-free DNA in late gestation [PDF]
The Journal of Maternal-Fetal & Neonatal Medicine, 2016 The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above.A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study.
Patricia A, Taneja +6 more
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Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. [PDF]
PLoS ONE, 2010 We recently demonstrated noninvasive detection of fetal aneuploidy by shotgun sequencing cell-free DNA in maternal plasma using next-generation high throughput sequencer.
H Christina Fan, Stephen R Quake
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Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.
PLoS ONENon-invasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by providing a safer alternative to invasive techniques such as amniocentesis and chorionic villus sampling.
Zuzana Holesova +7 more
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Frontiers in Pediatrics, 2020 In recent years, there have been major advances in the application of non-invasive techniques to predict pregnancy-related complications, for example by measuring cell-free RNA (cfRNA) in maternal blood.
Mira N. Moufarrej +4 more
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Hematology, 2022 Background The discovery of circulating cell-free fetal DNA (cff-DNA) in maternal plasma has inspired the noninvasive prenatal testing (NIPT) approaches for various genetic fetal screening including rhesus D typing, sex determination, aneuploidies, and ...
Muhammad Afzal +8 more
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