Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
نویسندگان
چکیده
منابع مشابه
P-226: Non-Invasive Prenatal Screening for Fetal Chromosomal Anomalies in South of Iran
Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
متن کاملNon-invasive prenatal diagnosis of fetal chromosomal aneuploidy: State of the art
Current methods for definitive prenatal diagnosis of chromosomal aneuploidy, such as chorionic villus sampling and amniocentesis, are invasive and associated with a risk of fetal miscarriage. In 1997, our group reported the presence of fetal DNA in maternal plasma and offered new possibilities for non-invasive prenatal diagnosis. However, fetal DNA exists as a minor fraction among a high backgr...
متن کاملAn Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing
Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex pred...
متن کاملAneuploidy screening by non‐invasive prenatal testing in twin pregnancy
OBJECTIVES To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. METHODS Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT...
متن کاملNon-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples
OBJECTIVE As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of th...
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ژورنال
عنوان ژورنال: Cochrane Database of Systematic Reviews
سال: 2017
ISSN: 1465-1858
DOI: 10.1002/14651858.cd011767.pub2