The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell- free fetal DNA in maternal plasma: The first clinical experience in Korea
mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1-3]. In 1997, Lo et al. [4] first demonstrated the presence Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequenci...
متن کاملNoninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA - 5/26/17
National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...
متن کاملNoninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
OBJECTIVE To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. METHODS Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12(+5) week) immediately before chorionic villus sampling (CVS) or amniocentesis. Data were analysed u...
متن کاملClinical perspective of cell-free DNA testing for fetal aneuploidies.
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 conditions that can be screened for. However, ...
متن کاملMaternal Plasma Fetal DNA Fractions in Pregnancies with Low and High Risks for Fetal Chromosomal Aneuploidies
Recently published international guidelines recommend the clinical use of noninvasive prenatal test (NIPT) for aneuploidy screening only among pregnant women whose fetuses are deemed at high risk. The applicability of NIPT to aneuploidy screening among average risk pregnancies requires additional supportive evidence. A key determinant of the reliability of aneuploidy NIPT is the fetal DNA fract...
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ژورنال
عنوان ژورنال: Medicina
سال: 2020
ISSN: 1648-9144
DOI: 10.3390/medicina56110579