Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany
نویسندگان
چکیده
منابع مشابه
Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA
The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the det...
متن کاملInvasive or non-invasive prenatal genetic diagnosis?
About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...
متن کاملNon-invasive prenatal testing for fetal aneuploidy by massively parallel DNA sequencing of maternal plasma: the future has arrived today
After decades of research, non-invasive prenatal testing (NIPT) using maternal blood to determine fetal chromosome status has found its way from the research laboratory into clinical practice, triggering a long-awaited paradigm shift in prenatal care. A variety of methods using sequencing of maternal cell-free DNA (cfDNA) have now been studied, primarily demonstrating their ability to detect th...
متن کامل[Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].
BACKGROUND Discovery of cell-free fetal DNA (cffDNA) in maternal blood in 1997 by Lo et al. has opened the possibility of a noninvasive prenatal test (NIPT). Currently, it is employed in the analysis of aneuploidies and fetal sex determination. Massive parallel sequencing (MPS) detects the origin of each amplified sequence, and analyses over-representation of sequences or any decrease in the fe...
متن کاملNoninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA
BACKGROUND Plasma DNA obtained from a pregnant woman contains a mixture of maternal and fetal DNA. The fetal DNA proportion in maternal plasma is relatively consistent as determined using polymorphic genetic markers across different chromosomes in euploid pregnancies. For aneuploid pregnancies, the observed fetal DNA proportion measured using polymorphic genetic markers for the aneuploid chromo...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2014
ISSN: 1755-8166
DOI: 10.1186/1755-8166-7-s1-i14